Berek Novak's Gyn 2019. Chapter 19 Benign Breast Disease

 CHAPTER 19

Benign Breast Disease

KEY POINTS

1 Breast complaints are common, and the first priority in evaluation is to rule out

malignancy and ensure concordance between physical examination, imaging, and

1055pathology after a diagnosis has been reached.

2 Workup of a breast complaint includes a thorough history and physical, often

accompanied by ultrasound, mammography in women over age 35 and, in some

cases, biopsy and pathologic evaluation.

3 The most common benign breast problems include fibrocystic changes and mastalgia.

These problems are usually best treated by reassurance. Pharmacologic agents are

available but have side effects that usually are not well tolerated.

4 Histologic differences exist between fibroadenomas and phyllodes tumors; phyllodes

tumors require excision, whereas small asymptomatic fibroadenomas can be

observed if the diagnosis is confirmed by classic imaging findings or histologic

assessment and there is no evidence of growth.

5 Breast abscesses are managed with aspiration and antibiotics; the use of incision and

drainage is reserved for recurrence.

6 Spontaneous, unilateral, bloody discharge requires histologic evaluation to exclude

malignancy, but symptoms usually are caused by a benign process such as

intraductal papilloma or duct ectasia.

7 Proliferative lesions such as ductal and lobular neoplasia represent an increased risk

to the patient of subsequent diagnosis of breast cancer in either breast. Atypical

lobular hyperplasia and lobular carcinoma in situ (LCIS) may be followed closely

with repeat mammography and clinical examination, while atypical ductal

hyperplasia (ADH) requires surgical excision because of the risk for concomitant

cancer.

Benign breast diseases are among the most common diagnoses that the busy

obstetrician-gynecologist will see in practice. An ability to accurately and

promptly diagnose benign and malignant breast diseases is within the purview of

the practicing gynecologist (1,2). Benign breast disease is a complex entity

associated with a range of physiologic changes and clinical manifestations that

have an impact on a woman’s health independent of breast cancer risk (3).

Patients may present with complaints ranging from pain to a palpable mass, skin

or nipple changes, or, with increasing frequency, a mammographically-detected

abnormality. Patients are often distressed regarding the possibility of cancer.

Ultimately, the majority of breast complaints are benign conditions, and it is the

practitioner’s role to guide the patient through the process of excluding a

malignancy, reaching a diagnosis, treating her symptoms, and managing future

risk (4).

EVALUATION

History

Evaluation of a new breast symptom begins with a thorough clinical history. The

1056history should include questions regarding current symptoms, duration of the

condition, fluctuation of the signs and symptoms, and factors that aggravate or

relieve the symptom. [1] Assessment of breast problems should focus on the

following points:

Nipple discharge

Characteristics of discharge (spontaneous or elicited, appearance,

unilateral or bilateral, single or multiple duct involvement)

Breast mass (size and change in size, density, or texture)

Breast pain (cyclic versus continuous)

Association of symptoms with menstrual cycle

Change in breast shape, size, or texture

Previous breast biopsies

History of breast trauma

The patient should be questioned about the following risk factors for breast

cancer (see Chapter 42 for more details):

Increasing age (approximately 50% of breast cancers occur after age

65)

Age of menarche less than 12 years of age

Nulliparity or first pregnancy at greater than 30 years of age

Late menopause (older than 55 years of age)

Personal history of breast or other malignancies (ovary, colon, and

prostate)

Family history of breast cancer (especially in first-degree relatives who

were premenopausal or had bilateral disease)

Number of first-degree relatives with breast cancer and their ages

when diagnosed

Family history of male breast cancer

Inherited conditions associated with a high risk for developing breast

cancer, including BRCA1 and BRCA2 genes, Li-Fraumeni syndrome,

PTEN hamartoma tumor syndrome (Cowden), hereditary diffuse

gastric cancer syndrome, and Peutz–Jeghers syndrome

Pathology of previous breast biopsy showing atypia or lobular

carcinoma in situ (LCIS)

Hormone replacement therapy

Alcohol consumption

Postmenopausal weight gain

Several clinical risk prediction models are readily available online. The most

1057commonly used of these is the Breast Cancer Risk Assessment Tool or Gail Risk

Assessment model from the National Cancer Institute (5). The Gail Risk

Assessment model calculates the risk based on the patient’s race, age, age of

menarche, age of first live birth, number of first-degree relatives with breast

cancer, number of previous breast biopsies, and presence of atypia on the biopsy.

The Gail model likely underestimates the genetic contribution to risk and should

not be used for patients with family members with breast, ovarian, tubal, or

peritoneal cancer. Instead, the United States Preventative Services Task Force

(USPSTF) recommends the use of either the Ontario Family History Assessment

Tool, Manchester Scoring System, Referral Screening Tool, Pedigree Assessment

Tool, or the Family History Screen 7 (6). Other useful risk calculators include

BRCAPro and Tyrer–Cuzick (7,8).

While taking the clinical history, it is important to obtain a current list of

medications used, including hormone replacement therapy and herbal medications

such as phytoestrogens. The gestational history should take into consideration the

possibility that the patient may be pregnant or has a prior history of miscarriage or

abortion. A personal history of exposure to radiation, especially in the treatment

of childhood malignancies, is associated with a higher incidence of developing

breast cancer (9). The goal of breast evaluation is to determine clearly whether the

symptom represents a benign breast condition or may be indicative of a neoplastic

process.

Physical Examination

[2] Breast tumors, particularly malignant tumors, usually are asymptomatic

and are discovered by the patient, physical examination, or screening

mammography. Typically, the breast changes slightly during the menstrual

cycle. During the premenstrual phase, most women have increased innocuous

nodularity and mild engorgement of the breast. Rarely these characteristics can

obscure an underlying lesion and make examination difficult. Findings should be

carefully documented in the medical record to serve as a baseline for future

reference.

Inspection

Inspection is performed initially while the patient is seated comfortably with

her arms relaxed at her sides. The breasts are compared for symmetry,

contour, and skin appearance. Edema or erythema is identified easily, and skin

dimpling or nipple retraction is shown by having the patient raise her arms above

her head and then press her hands on her hips, thereby contracting the pectoralis

muscles (Fig. 19-1). Palpable and even nonpalpable tumors that distort the

1058Cooper ligaments may lead to skin dimpling with these maneuvers.

Palpation

[2] While the patient is seated, each breast should be palpated methodically.

Some physicians recommend palpating the breast in long strips, but the exact

palpation technique used is probably not as important as the thoroughness of its

application over the entire breast. One very effective method is to palpate the

breast in enlarging concentric circles until the entire breast is covered. A

pendulous breast can be palpated by placing one hand beneath the breast and

gently palpating the breast between both examining hands with the patient still

seated. The axillary and supraclavicular areas should be palpated for enlarged

lymph nodes. The entire axilla, the upper outer quadrant of the breast, and the

axillary tail of Spence are palpated for possible masses. [2] While the patient is

supine with one arm over her head, the ipsilateral breast is again

methodically palpated from the clavicle to the costal margin and from the

sternum to the latissimus dorsi laterally. If the breast is large, a pillow or towel

may be placed beneath the scapula to elevate the side being examined; otherwise,

the breast tends to fall to the side, making palpation of the lateral hemisphere

more difficult. The major features to be identified on palpation of the breast are

temperature, texture and thickness of skin, generalized or focal tenderness,

nodularity, density, asymmetry, dominant masses, and nipple discharge. Most

premenopausal patients have normally nodular breast parenchyma. The nodularity

is diffuse but predominantly in the upper outer quadrants, where there is more

breast tissue. These benign parenchymal nodules are small, similar in size, and

indistinct. By comparison, breast cancer usually occurs in the form of a

nontender, firm mass with irregular margins. A cancerous mass feels distinctly

different from the surrounding nodularity. A malignant mass may be fixed to the

skin or to the underlying fascia. A suspicious mass is usually unilateral. Similar

findings in both breasts are unlikely to represent malignant disease (3).

1059FIGURE 19-1 Raising the arm reveals retraction of the skin of the lower outer quadrant

caused by a small palpable carcinoma. (From Giuliano AE, Dang CM. Breast disease. In:

Berek JS, Hacker NF, eds. Berek & Hacker’s Gynecologic Oncology. 6th ed. Philadelphia:

Lippincott Williams & Wilkins; 2014:650.)

Breast Self-Examination

1060Breast self-examination (BSE) may help some women but is no longer

recommended for the average-risk patient. BSE is associated with no

improvement in breast cancer survival and increases biopsies for ultimately

benign lesions (10). In patients wishing to do BSE, they should be educated

regarding the natural cyclic changes of the breast and instructed to examine their

breasts at the same time during each menstrual cycle. Premenopausal women who

wish to perform BSE should examine their breasts monthly 7 to 10 days after the

onset of the menstrual cycle. For postmenopausal women, selection of a specific

calendar date is a helpful way to remember to perform a monthly BSE. Women

should be instructed to report any abnormalities or changes to their physicians. If

the physician cannot confirm the patient’s findings, the examination should be

repeated in 1 month or after her next menstrual period (11).

The following seven “P’s” represent the essential components of breast

examination:

Positions

Palpation

Pads of fingers for palpation

Pressure

Perimeter

Pattern of search

Patient education

The woman should inspect her breasts while standing or sitting before a mirror,

looking for any asymmetry, skin dimpling, or nipple retraction. Elevating her

arms over her head or pressing her hands against her hips to contract the

pectoralis muscles will highlight any skin dimpling. Finally, the woman should

examine her breasts while bending over and leaning forward. While standing or

sitting, she should carefully palpate her breasts with the fingers of the opposite

hand. She should lie down and again palpate each quadrant of the breast as well

as the axilla using the pads of the three middle fingers with three pressures—light,

medium, and deep—covering the entire breast from the clavicle to the

inframammary fold, from the sternum to the latissimus dorsi laterally. The area

within the perimeter of the breast should be palpated, preferably using an up-anddown method called the vertical stripe, rather than the concentric circular or radial

methods, in which the edges of the breast tissue often are omitted. Many women

feel anxious about performing breast examination (12). The examination may be

performed while showering; soap and water may increase the sensitivity of

palpation, and the privacy of the shower may provide a less anxiety-provoking

environment.

1061Breast Imaging

Mammography

[2] Mammography remains the gold standard for screening for breast

cancer. It is an excellent screening test and its sensitivity usually increases

with age as does cancer incidence (13). Full-field digital mammography

(FFDM), which records mammographic images on a computer, is a modification

of the older screen-film mammography and has become standard in many centers.

This technology has allowed many conveniences including the ability to

manipulate a computerized image for optimal viewing and access to distant

consultations through telemammography. Radiation exposure is less with digital

than with conventional film mammography. Digital mammography has

demonstrated superior sensitivity, but lower specificity for women with dense

breasts and those aged 40 to 49 years at the expense of increased costs and more

false-positive results (14).

Tomosynthesis, or three-dimensional (3D) mammography, is another

breast imaging technique used in conjunction with standard mammography

to improve the sensitivity of screening. This technique uses a moving x-ray

source to collect 3D volumetric data and reconstruct thin sections of the breast. In

tomosynthesis, increased lesion detection comes at the expense of increased

radiation exposure (15). In prospective trials, tomosynthesis plus mammography

resulted in a cancer detection rate of 8.0 to 8.8 per 1,000 screens versus 6.1 to 6.3

per 1,000 for mammography alone (15–17). Tomosynthesis has the theoretical

advantage of eliminating false positives that occur as a result of superimposition

of compressed breast tissue in standard mammography. This was supported by

retrospective data, but thus far has failed to be consistently supported in

prospective trials. Tomosynthesis does decrease the need to call patients back for

additional views (18).

[2] Compression of the breast is necessary to obtain good mammographic

images, and patients should be forewarned that breast compression is

uncomfortable. With good technique and well-maintained modern equipment,

exposure to radiation can be limited. FFDM has a 22% lower mean glandular

radiation dose than film-screen mammography per acquired view. FFDM delivers

1.86 mGy average breast radiation dose per view compared to 2.37 mGy for film

screen, while tomosynthesis delivers twice the dose of digital mammography on

average (19,20).

[2] Slow-growing breast cancers can be identified by mammography at least

2 years before the mass reaches a size detectable by palpation. These tumors

have a less aggressive biologic behavior than interval breast cancers (19–21).

Mammography is the only reproducible method of detecting nonpalpable breast

1062cancer, but its use depends on the availability of state-of-the-art equipment and a

dedicated breast radiologist.

This desire for supplemental screening modalities coupled with concerns about

radiation exposure have prompted some centers to adopt whole-breast ultrasound

screening programs using either handheld probes or automated systems wherein

an automated transducer is used to acquire standardized images (22). These

adjuncts can detect mammographically occult breast cancers, again at the risk of

increased false-positive findings, leading to unnecessary core needle biopsy

(CNB) (22,23).

Indications for Mammography

[2] The indications for mammography are as follows:

1. To establish a baseline breast mammogram and reevaluate patients at

regular intervals to diagnose a potentially curable breast cancer before it

has been diagnosed clinically.

2. To screen women who are at high risk for developing breast cancer.

3. To evaluate a questionable or ill-defined breast mass or other suspicious

change in the breast that is detected by clinical breast examination.

4. To search for occult breast cancer in a patient with metastatic disease in

axillary nodes or elsewhere from an unknown primary origin.

5. To screen for unsuspected cancer before cosmetic operations or biopsy of

a mass.

6. To monitor breast cancer patients who were treated with a breastconserving surgery and radiation.

Mammographic Abnormalities

A mammographic abnormality includes a mass (solid or cystic),

microcalcifications (benign, indeterminate, or suspicious), asymmetric density,

architectural distortion, and appearance of a new density. [2] There are eight

morphologic categories of mammographic abnormalities (24):

1. Calcification distribution

2. Number of calcifications

3. Description of calcifications

4. Mass margin

5. Shape of mass

6. Density of mass

7. Associated findings

8. Special cases

1063Mammographic abnormalities should be visible on two views, usually

craniocaudal (CC) and mediolateral oblique (MLO). The lesion should triangulate

to the same location on those two views. Calcifications can be

macrocalcifications, which are coarse and usually represent benign degenerative

breast conditions. Calcifications associated with breast cancer are clustered,

pleomorphic microcalcifications; typically, five to eight or more calcifications are

aggregated in one part of the breast (25). These calcifications may be associated

with a mammographic mass density. A mass density may appear without

evidence of calcifications. It can represent a cyst, benign tumor, or a malignancy.

A malignant density usually has irregular or ill-defined borders and may lead to

architectural distortion, which may be subtle and difficult to detect in a dense

breast. Other mammographic findings suggesting breast cancer are architectural

distortion, asymmetric density, skin thickening or retraction, or nipple retraction.

Examples of mammographic abnormalities can be found in several electronic

sources (26).

Mammographic Reports

The American College of Radiology recommended the [2] Breast Imaging

Reporting and Data System (BI-RADS) as a standardized scheme for

describing mammographic lesions. In the BI-RADS system, there are six

categories for mammographic findings (other than incomplete) (24).

1. Incomplete, needs further imaging

2. Negative

3. Benign finding

4. Probably benign, short-interval follow-up recommended

5. Suspicious finding and biopsy should be performed

6. Highly suggestive of malignancy and appropriate action should be

undertaken

7. Known malignancy

The patient should be referred for tissue diagnosis if the report identifies a

lesion as a category 4 or 5 (20). A category 0 indicates incomplete evaluation,

and further diagnostic studies are required. Category 3 connotes a finding that

is most likely benign; a short-interval follow-up is recommended, and breast

examination by an expert should be considered.

Correlation of Findings

[2] Biopsy must be performed on patients with a dominant or suspicious

mass despite absence of mammographic findings (23). Mammography should

1064be performed before biopsy so other suspicious areas can be noted and the

contralateral breast can be checked (Fig. 19-2). Mammography is never a

substitute for biopsy because it may not reveal clinical cancer, especially

when it occurs in the dense breast tissue of young women with fibrocystic

changes. The sensitivity of mammography is approximately 80%, with a

specificity of 80% to 95% depending on the expertise of the radiologist

interpreting the study and patient factors including breast density, patient age, use

of hormone therapy, and the size, location, and mammographic appearance of the

tumor (27). Mammography is less sensitive in young women with dense breast

tissue than in older women, who tend to have fatty breasts (28). Small tumors,

particularly those without calcifications, are more difficult to detect, especially in

women with dense breasts.

FIGURE 19-2 Bilateral mammography shows the extent of breast carcinoma, illustrating

the importance of bilateral mammography in the workup of a clinically apparent mass.

(From Giuliano AE, Dang CM. Breast disease. In: Berek JS, Hacker NF, eds. Berek &

1065Hacker’s Gynecologic Oncology. 6th ed. Philadelphia: Lippincott Williams & Wilkins;

2014:652.)

Ultrasonography

Breast ultrasonography is frequently used for focused scanning of a palpable

lesion or mammographic finding (29). Reliable, portable, computer-enhanced

ultrasonography with high-frequency transducers and improved imaging is

available to evaluate and treat problems of the breast. It is a sensitive, minimally

invasive technique that is used frequently to evaluate some breast symptoms,

especially in younger women with dense breast tissue, but is dependent on the

availability of a skilled ultrasonographer (29). Some lesions can be detected only

with ultrasonography (23). It is the preferred modality to distinguish a solid from

a cystic mass (29). Breast ultrasonography may be used as an adjunct for

screening in women with dense breasts (30). Ultrasonography has a higher falsepositive rate than mammography (22,30).

[2] Following are indications for breast ultrasonography:

Palpable abnormality

Ambiguous mammographic findings

Silicone leak

Mass in woman younger than 30 years, lactating, or pregnant

Guidance for interventional procedures

Possible role for additional imaging in high-risk individuals

Ultrasonography is useful in distinguishing benign from malignant lesions

identified by mammography (29). Ultrasonography may be especially useful if

the patient feels a mass, but the physician cannot detect an abnormality and the

mammogram does not disclose one. It may identify cancers in the dense breast

tissue of premenopausal women, but it is usually used to distinguish a benign cyst

from a solid tumor. Ultrasonography cannot reliably detect

microcalcifications, and it is not as useful as mammography in assessing

women with fatty breasts.

[2] Handheld or real-time ultrasonography is very accurate in

differentiating solid masses from cysts (31). If a lesion proves to be a simple

cyst, no further evaluation is necessary. If the simple cyst is symptomatic,

aspiration may be performed. Rarely ultrasonography may identify a small cancer

within a cyst, an intracystic carcinoma. These complex cysts warrant surgical

biopsy.

Magnetic Resonance Imaging

1066Magnetic resonance imaging (MRI) is an appealing technique for imaging the

breast because it is highly sensitive and does not utilize ionizing radiation. Several

roles have been proposed for the use of breast MRI, but relatively few of these are

clearly supported by the literature (32).

It has been suggested that MRI may be useful for further workup of

inconclusive findings on mammography and ultrasonography (33). Gadolinium

enhancement on breast MRI is associated with breast cancer, but has varying

degrees of specificity (32). Enhancement patterns are known to vary with the

menstrual cycle and some noncancerous masses enhance with gadolinium (33).

[2] The National Comprehensive Cancer Network has recommended the

addition of annual MRI screening for patients with >20% lifetime risk of

breast cancer to routine mammographic screening (34). Screening MRI is not

recommended for women with average risk of breast cancer. In retrospective

studies of the high-risk population, 10 cancers are identified per 1,000 women

screened, 70% of which are seen on MRI only (35). MRI screening has a

sensitivity of greater than 90%, but a specificity of 60%, resulting in fivefold the

number of biopsies and 10-fold the callback rate for a 6-month follow-up study

(BI-RADS category 3 assessment) of mammographic screening alone (35,36). In

prospective studies, 10-year survival is not improved, but fewer cancers detected

on MRI are lymph node–positive compared to mammography with no additional

screening (36). This finding has led to the hypothesis that earlier diagnosis in this

population leads to improved quality of life by allowing less radical therapy.

Routine preoperative evaluation of patients diagnosed with breast cancer is a

common practice that is not evidence based (37). Several large meta-analyses

have demonstrated no oncologic benefit to routine preoperative MRI (38–40).

These studies demonstrate no difference in disease-free survival, or local or

distant recurrence, but do show increased rates of biopsy, mastectomy, overall

number of surgical procedures, and cost (38–40). [2] Routine preoperative

breast MRI in patients diagnosed with breast cancer is not necessary.

Breast MRI is commonly used to evaluate the in-breast response to

neoadjuvant chemotherapy (NAC) (41). MRI enhancement does correlate with

the extent of disease found at evaluation of the surgical specimen, but less

frequently influences clinical decision making. In a study of 60 patients who

received NAC in an attempt to allow breast conservation, mammographic

findings and patient preference determined the decision for or against breast

conserving surgery despite a favorable post-NAC MRI (41). No patient initially

felt to require downstaging was denied breast conserving treatment on the basis of

post-NAC MRI, and of those electing to undergo lumpectomy, 91% were

successful (41).

One case in which pre-operative MRI clearly benefits patients is that of a

1067woman presenting with breast cancer with axillary metastasis and no identifiable

primary tumor. [2] Breast MRI identifies a mammographically occult primary

breast cancer in patients presenting with axillary metastasis in two-thirds of

patients, thus allowing breast conserving surgery (42).

MRI is extremely useful in identifying silicone released by ruptured breast

implants in patients with augmented breasts (Fig. 19-3). One interesting trial in

which 208 asymptomatic women underwent breast MRI prior to scheduled

explantation of recalled silicone breast implants, showed a sensitivity and

specificity of 93% and a negative predictive value of 98% (43). In practice,

breast MRI may be used reliably to rule out implant rupture.

BREAST TISSUE EVALUATION: HISTOLOGY AND

CYTOLOGY

The safest course is tissue biopsy evaluation of all dominant masses found on

physical examination and, in the absence of a mass, evaluation of suspicious

lesions shown by breast imaging. Over 1 million women have breast biopsies

each year in the United States. Between 70% and 80% of these biopsies yield a

benign lesion (44). The diagnosis of a benign breast lesion versus breast

cancer is often difficult to determine based on clinical examination and

requires evaluation of tissue by core CNB. The sensitivity of CNB performed

using either stereotactic or ultrasound guidance is greater than 95% (45). Fineneedle aspiration cytology is an alternative to CNB, which allows cytologic

evaluation at about one-tenth the cost of CNB and remains useful in health

systems where the cost of CNB and pathologic analysis is prohibitive. The main

limitations of FNA are high rate of insufficient sampling, inability to distinguish

invasive from noninvasive cancers and insufficient tissue for

immunohistochemistry staining to determine hormone receptor and HER2 status

(46). CNB has replaced FNA and surgical biopsy as the diagnostic procedure of

choice for evaluation of a breast mass (47,48). CNBs can be performed with

mammographic or stereotactic, ultrasound or MRI guidance.

1068FIGURE 19-3 Mammography shows implant and extracapsular free silicone (arrow).

[2] About 30% of lesions suspected to be cancer prove to be benign on

biopsy, and about 15% of lesions believed to be benign prove to be malignant

(19). Dominant masses or suspicious nonpalpable breast lesions require

1069pathologic examination. In most cases, pathologic diagnosis should be obtained

before the decision is made to monitor a breast mass (49). An exception may be a

premenopausal woman with a nonsuspicious mass presumed to be fibrocystic

disease or a fibroadenoma with classical imaging findings. An apparently

fibrocystic lesion that does not completely resolve within several menstrual

cycles may be sampled for biopsy. Any mass in a postmenopausal woman

who is not taking estrogen therapy should be presumed to be malignant.

When the results of the clinical diagnosis, breast imaging studies, and pathology

are all in agreement, the workup is complete and treatment and follow-up

planning may be initiated. Figures 19-4 and 19-5 present algorithms for

management of breast masses in premenopausal and postmenopausal

patients. Simultaneous evaluation of a breast mass using clinical breast

examination, radiography, and needle biopsy can lower the risk of missing cancer

to only 1%, effectively reducing the rate of diagnostic failure and increasing the

quality of patient care (48).

[2] If the presence of breast cancer is strongly suggested by physical

examination, the diagnosis can be confirmed by CNB, and the patient may be

counseled regarding treatment. Treatment should not be determined based

on results of physical examination and mammography alone, in the absence

of biopsy results. The most reasonable approach to the diagnosis and

treatment of breast cancer is outpatient CNB, followed by definitive

operation at a later date if needed. Routine operative surgical biopsies are of

historical interest only and should not be performed. The pathologic data

obtained by CNB contributes to appropriate consideration of neoadjuvant

therapies and allows patients to adjust to the diagnosis of cancer, carefully

consider therapeutic options, and seek a second opinion (46,47). In cases of

indeterminate diagnoses on CNB, surgical excision remains useful to clarify

diagnosis and rule out coexistent malignancy.

Core Needle Biopsy

[2] The interpretation of results from CNB is classified by categories B1 to

B5 (50):

B1: Normal tissue

B2: Benign lesions: fibroadenomas, fibrocystic change, sclerosing adenosis,

duct ectasia, fat necrosis, abscess

B3: Uncertain malignant potential: atypical epithelial hyperplasia, lobular

neoplasia, phyllodes tumor, papillary lesions, radial scar, complex

sclerosing lesions

B4: Suspicious

1070B5: Malignant

Histologic Analysis

Histologic evaluation with hematoxylin and eosin (H&E) staining confirms

benign or malignant disease. Images of benign and malignant breast lesions can

be viewed through the Internet Pathology Laboratory for Medical Education (51).

BENIGN BREAST CONDITIONS

Benign breast disorders account for most breast problems. These conditions are

frequently considered in the context of excluding breast cancer and often are

unrecognized for their own associated morbidity (3). To provide appropriate

management, it is important to consider benign breast disorders from four aspects:

(i) clinical picture, (ii) medical significance, (iii) treatment intervention, and (iv)

pathologic etiology (3). A framework for understanding benign breast problems is

called Aberrations of Normal Development and Involution (ANDI) (52,53). It

includes symptoms, histology, endocrine state, and pathogenesis in a progression

from a normal to a disease state. Most benign breast conditions arise from normal

changes in breast development, hormone cycling, and reproductive evolution

(52).

1071FIGURE 19-4 Algorithm for management of breast masses in premenopausal women.

1072FIGURE 19-5 Algorithm for management of breast masses in postmenopausal women.

[3] Three life cycles reflect different reproductive phases in a woman’s life

and are associated with unique breast manifestations.

1. During the early reproductive period (15 to 25 years), lobule and stromal

formation occurs. The ANDI conditions associated with this period are

fibroadenoma (mass) and juvenile hypertrophy (excessive breast

development). In this first stage, the progression from ANDI to a disease state

results in the formation of giant fibroadenomas and multiple fibroadenomas.

2. During the mature reproductive period (25 to 40 years), cyclic hormonal

changes affect glandular tissue and stroma. In this second period, the ANDI

1073is an exaggeration of these cyclic effects, such as cyclic mastalgia and

generalized nodularity.

3. The third phase is involution of lobules and ducts or turnover of epithelia,

which occurs during ages 35 to 55 years. The ANDI associated with lobular

involution are macrocysts (lumps) and sclerosing lesions (mammographic

abnormalities). Those associated with ductal involution are duct dilation

(nipple discharge) and periductal fibrosis (nipple retraction), and those with

epithelial turnover are mild hyperplasia (pathologic description).

Disease conditions with increased epithelial turnover are epithelial hyperplasias

with atypia. Breasts are under endocrine control and show a wide range of

appearances during reproductive life. ANDI classification allows the clinician to

understand the pathogenesis of these conditions and to understand that these

disorders are aberrations of a normal process that does not usually require any

specific treatment (53).

BREAST MASS

Fibrocystic Change

[3] Fibrocystic change, the most common lesion of the breast, is an imprecise

term that covers a spectrum of clinical signs, symptoms, and histologic

changes (52). The term refers to a histologic picture of fibrosis, cyst formation,

and epithelial hyperplasia. Cysts arise from the breast lobules and are an

aberration of normal breast involution (53). Macroscopic cysts occur in

approximately 7% of women, and microscopic, nonpalpable cysts occur in about

40% of women (54). It is common in women 35 to 55 years of age, but rare in

postmenopausal women not taking hormone therapy. The presence of estrogen

seems necessary for the clinical symptoms to occur. This finding is supported by

the observation that it is present bilaterally, increased in the perimenopausal age

group, and responsive to endocrine therapy (55). In essence, a diagnosis of

fibrocystic change can lead to significant patient anxiety but is of little clinical

significance as long as malignancy is excluded (3). These lesions are associated

with benign changes in the breast epithelium and patients with this entity should

be reassured.

Clinical Findings in Fibrocystic Disease

[3] Fibrocystic changes may produce an asymptomatic mass that is smooth,

mobile, and potentially compressible. Fibrocystic change is more often

accompanied by pain or tenderness and sometimes nipple discharge. In

many cases, discomfort coincides with the premenstrual phase of the cycle,

1074when the cysts tend to enlarge. Fluctuations in size and rapid appearance or

disappearance of a breast mass are common. Multiple or bilateral masses

appear frequently, and many patients have a history of a transient mass in

the breast or cyclic breast pain. Cyclic breast pain is the most commonly

associated symptom of fibrocystic changes.

Differential Diagnosis

Pain, fluctuation in size, multiplicity of lesions, and bilaterality are the features

most helpful to differentiate fibrocystic disease from carcinoma. If a dominant

mass is present, the diagnosis of cancer should be suspected until it is disproved

by complete aspiration of a cyst, or pathologic analysis by CNB if a mass is

present after aspiration. Microscopic findings associated with fibrocystic disease

include cysts (gross and microscopic), papillomatosis, adenosis, fibrosis, and

ductal epithelial hyperplasia (3).

Diagnostic Tests

[3] Patients with cystic disease may have a discrete fibrocystic mass that is

frequently indistinguishable from carcinoma, based on clinical findings.

Mammography may be helpful, but there are no mammographic signs diagnostic

of fibrocystic change. Ultrasonography is useful in differentiating a cystic from a

solid mass. Characteristic findings on ultrasonography that confirm a simple

cyst include the following:

Mass with thin walls

Smooth round shape

Absence of internal echoes

Posterior acoustic enhancement

If these imaging criteria are not met, a tissue diagnosis of the mass, by CNB, is

required. The finding of a simple cyst by ultrasonography rules out carcinoma.

Any lesion that is suspicious by mammography or ultrasonography should be

biopsied. When the diagnosis of fibrocystic change is established by

ultrasonography, aspiration of a cyst is indicated only if the patient is

symptomatic or the cyst obscures visualization of breast tissue on mammography

and prevents adequate imaging. Aspiration may be performed with

ultrasonographic guidance, but image guidance may not be absolutely necessary

when the cyst is palpable (56). Aspiration of a cyst is a minimally invasive

procedure performed with a 21- or 22-gauge needle without local anesthesia and

is not associated with significant risks or complications. There is minimal pain

and little risk for infection or bleeding. Benign cyst fluid is straw colored to dark

1075green to brownish and does not need to be submitted for cytologic evaluation

(57). The patient should be reexamined at a short interval thereafter for cyst

recurrence. Cysts will reoccur in one-third of patients, cause anxiety, and require

repeated evaluations. [3] Tissue biopsy should be performed in the presence of

the following findings (54–59):

No cyst fluid is obtained.

The fluid is bloody.

The fluid is thick.

The cyst is complex.

There is an intracystic mass.

A mass persists after aspiration.

A persistent mass is noted at any time during follow-up.

If a needle biopsy is performed and results are negative for malignancy, a

suspicious mass that does not resolve at short-interval follow-up imaging

should be excised (56). Surgery should be conservative, because the primary

objective is to exclude cancer. Simple mastectomy or extensive removal of breast

tissue is not indicated for fibrocystic disease. Most patients do not require

treatment for fibrocystic changes, just reassurance that fibrocystic change is a

transient phenomenon of aging that is associated with hormonal effects on the

breast glandular tissue that eventually subsides.

Cyst Fluid Analysis

Investigators have examined the electrolyte and protein content of cyst fluid, but

this is of little significance in the clinical management of fibrocystic disease. The

potassium-to-sodium ratio is a marker that may be used to distinguish cyst

subtypes (60). Cysts are either secretive, lined by an apocrine epithelium with a

high potassium-to-sodium ratio and a higher hormone or steroid concentration

(type I); or transudative, lined by flattened lobule epithelium with a low

potassium-to-sodium ratio and a higher concentration of albumin,

carcinoembryonic antigen, CA125, and steroid hormone–binding globulin (type

II) (60). Apocrine cysts produce and secrete large amounts of prostate-specific

antigen (PSA) (61). The role of this serine protease in proliferative breast disease

is not fully understood.

Fibrocystic Change and Risk for Breast Cancer

[3] Fibrocystic change is not associated with an increased risk of breast

cancer unless there is histologic evidence of epithelial proliferative changes,

with or without atypia (62). The common coincidence of fibrocystic disease and

1076malignancy in the same breast reflects the fact that both processes are common

events. Approximately 80% of biopsies show fibrocystic changes. In an

evaluation of the relationship between fibrocystic change and breast cancer in

10,366 women who underwent biopsy between 1950 and 1968 and were followed

for a median of 17 years, approximately 70% of the biopsies showed

nonproliferative breast disease, whereas 30% showed proliferative breast disease

(62). Cytologic atypia were present in 3.6% of cases. Women with

nonproliferative disease had no increased risk of breast cancer, whereas women

with proliferative breast disease and no atypical hyperplasia had a twofold higher

risk of breast cancer. [6] Patients whose biopsy results showed atypical ductal

or lobular hyperplasia had an approximately fivefold higher risk than

women with nonproliferative disease to develop invasive breast cancer in

either breast. Patients with carcinoma in situ have an 8- to 10-fold risk of

developing breast cancer. This risk is bilateral for lobular lesions and ipsilateral

for ductal lesions. A family history of breast cancer added little risk for women

with nonproliferative disease, but family history plus atypia increased breast

cancer risk by 11-fold. The presence of cysts alone did not increase the risk of

breast cancer, but cysts combined with a family history of breast cancer increased

the risk about threefold (62). Women with these risk factors (family history of

breast cancer and proliferative breast disease) should be followed carefully with

physical examination and mammography. For such women, age-specific

probability of developing invasive breast carcinoma in the next 10 years is 1 in

2,000 (age 20), 1 in 256 (age 30), 1 in 67 (age 40), 1 in 39 (age 50), and 1 in 29

(age 60) (62). The relative risk for developing breast cancer depends on the type

of proliferative lesion diagnosed.

Management of Fibrocystic Change

[3] Fibrocystic change is a normal evolutionary change in breast

development and involution and does not require a specific treatment other

than a good clinical breast examination and age-appropriate mammographic

screening or imaging studies directed to signs and symptoms. A number of

nutritional and dietary supplements have been investigated to relieve symptoms.

The role of caffeine consumption in the aggravation of fibrocystic change is

controversial (63,64). Results of some studies suggest that eliminating caffeine

from the diet is associated with improvement of symptoms. Many patients are

aware of these studies and report relief of symptoms after discontinuing intake of

coffee, tea, and chocolate. Vitamin E and B6 supplementation have been

suggested as possible treatments given the biochemical changes observed in

fibrocystic breast tissue with direct administration (65). Observations about the

clinical effects of these vitamins are difficult to confirm and are anecdotal (66).

1077Investigations of nutritional interventions for fibrocystic breast conditions have

had insufficient data to draw clear conclusions about their effectiveness (67).

Exacerbations of pain, tenderness, and cyst formation may occur at any time until

menopause, when symptoms usually subside, unless patients are taking estrogen.

Patients with symptoms of pain that significantly diminish the quality of life may

consider hormonal therapies for mastalgia (68).

Fibroepithelial Lesions

Fibroadenoma

[4] Fibroadenomas are the most common benign tumors of the breast. They

usually occur in young women (age 20 to 35 years) and may occur in teenagers

(69,70). In women younger than 25 years, fibroadenomas are more common than

cysts. They rarely occur after menopause, although occasionally they are found,

often calcified, in postmenopausal women (71). For this reason, it is postulated

that fibroadenomas are responsive to estrogen stimulation. Fibroadenomas may

appear as single masses or as multiple lesions.

Clinically, a young woman usually notices a mass while showering or dressing.

Most masses are 1 to 3 cm in diameter when detected, but they can become

extremely large (i.e., the giant fibroadenoma). On physical examination, they are

firm, smooth, and rubbery. They do not elicit an inflammatory reaction, are freely

mobile, and cause no dimpling of the skin or nipple retraction. They are often

bilobed, and a groove can be palpated on examination. On mammographic and

ultrasonographic imaging, the typical features are of a well-defined, smooth,

oblong, solid mass with clearly defined margins.

[4] Fibroadenoma is not associated with an increased risk for breast cancer

(3). The natural history of fibroadenoma can be regression, growth, or no change

in size. Most fibroadenomas are static or cease growth at approximately 2 to 3

cm, about 15% of tumors regress spontaneously, and only 5% to 10% progress

(72). A fibroadenoma that is classic on imaging need not be biopsied, but should

be followed with short-interval repeat imaging to document stability. Because

cancer occurring in a fibroadenoma is rare and regression is frequent,

management recommendations are conservative unless there is evidence of

growth (34). Rarely will the fibroadenoma increase to more than 2 to 3 cm in size.

Large or growing fibroadenomas must be excised to exclude carcinoma or

phyllodes tumor. Complete excision of a fibroadenoma with local anesthesia can

be performed to treat the lesion and confirm the absence of malignancy. Less

invasive local treatment of a fibroadenoma is advocated by some and can be

performed with either ultrasonographically guided percutaneous vacuum-assisted

biopsy devices or percutaneous cryoablation (73).

1078On gross examination of an excised mass, the fibroadenoma appears

encapsulated and sharply delineated from the surrounding breast parenchyma.

Microscopically, there is proliferation of the epithelial and stromal component. In

longstanding lesions and in postmenopausal patients, calcifications may be

observed within the stroma.

Multiple Fibroadenomas

Multiple fibroadenomas occur in some women and were reported to occur more

frequently in premenopausal women undergoing immunosuppression for organ

transplantation (74).

Phyllodes Tumor

[4] Phyllodes tumors are rare fibroepithelial tumors that display a spectrum

of clinical and pathologic behaviors that may be either benign, borderline, or

malignant (75). The majority of phyllodes tumors are benign (60%), with

fewer being malignant (20%) and borderline lesions (20%) (76). Variation in

histologic interpretation may influence these rates (71). Phyllodes tumors may

occur at any age but tend to be more common in women who are in their late 30s,

40s, and 50s (76). These lesions are rarely bilateral and usually appear as

isolated masses that are difficult to distinguish clinically from a

fibroadenoma. Patients often relate a long history of a previously stable nodule

that suddenly increases in size. Reported sizes range from 1 to 50 cm (77). Size is

not a dependable on the diagnostic criterion, although phyllodes tumors tend to be

larger than fibroadenomas, probably because of their rapid growth. There are no

good clinical criteria by which to distinguish a phyllodes tumor from a

fibroadenoma. Whereas observation of a fibroadenoma is acceptable, excision of

a phyllodes tumor is necessary for local control and for determination of benign

or malignant features. To avoid unnecessary excision of benign fibroadenomas

that are indistinguishable from phyllodes tumors on clinical examination, imaging

criteria were sought to aid in identifying patients who require EB for complete

histopathologic evaluation and local control. Mammography may show a halo

around a phyllodes tumor mass but cannot reliably distinguish a fibroadenoma

from a phyllodes tumor (76). Ultrasonography evaluation has limitations even

when color and pulse Doppler ultrasonography are used in conjunction with it

(76).

[4] Microscopic evaluation of a lesion is important to determine the

diagnosis. The histologic distinction between fibroadenoma, benign,

borderline, and malignant phyllodes tumor can be very difficult on minimal

tissue sampling with CNB (71,78). It may be easier to distinguish benign

phyllodes from malignant phyllodes tumors than benign phyllodes tumors from

1079fibroadenomas (71). Histologic features that stratify lesions include number of

mitoses per high power field, stromal cellularity, pushing or infiltrating tumor

margin, cellular atypia, tumor necrosis, and stromal overgrowth (71).

[4] If a lesion cannot be clearly characterized as a fibroadenoma, excision

may be necessary. Factors that are considered in recommending excision include

older age, new mass in a well-screened individual, rapid growth, size greater than

2.5 to 3 cm, suspicious CNB, and mammographic or ultrasonographic features

that demonstrate lobulation and intramural cysts. If observation is elected, repeat

clinical examination and imaging in a short interval is essential to evaluate the

change in size.

[4] Treatment of core biopsy–proven phyllodes tumor is wide local excision,

attempting to obtain a 1- to 2-cm margin since malignancy may not be

excluded (79). Massive tumors, or large tumors in relatively small breasts, may

require mastectomy; otherwise, mastectomy should be avoided, and axillary

lymph node dissection is not indicated. In most cases a phyllodes tumor is locally

excised because it was felt to be a fibroadenoma. Reexcision is rarely necessary

for benign phyllodes tumor, but is recommended for phyllodes tumors with

borderline or malignant features (79–81).

The prognosis of benign and malignant phyllodes tumors is variable (82,83).

[4] Tumors judged to be benign phyllodes tumors can recur locally in up to

10% of patients (81). Recurrence is associated with margin involvement,

whereas mortality correlates with size and grade (82). In high-grade malignant

phyllodes tumors, size and excision margins are associated with local recurrence

and metastatic spread, and mastectomy may be required to achieve complete

surgical excision in patients with small breasts (83). [4] Malignant phyllodes

tumors tend to recur locally and, although metastasis is unusual, they may

occasionally metastasize to the lung, although brain, pelvic, and bone

metastases may occur (83). The stromal component of the tumor is malignant

and metastasizes, behaving like a sarcoma. Axillary involvement is extremely

unusual. Often, the appearance of metastasis is the first sign that a phyllodes

tumor is malignant. Chemotherapy for metastatic phyllodes tumors should be

based on regimens for sarcoma, not adenocarcinoma (84). Radiation therapy

generally is not used in the treatment of phyllodes tumors, but in the presence of a

bulky tumor, positive margins, recurrence, or malignant histology, it may be of

some benefit (85).

Fat Necrosis

Fat necrosis of the breast is rare but clinically important because it produces

a mass, clinically indistinguishable from carcinoma, often accompanied by

skin or nipple retraction. Fat necrosis often presents as a confusing clinical

1080finding. Trauma is presumed to be the cause, although only about one-half of

patients have a history of injury to the breast. Ecchymosis is occasionally seen

near the mass. Tenderness may or may not be present. If untreated, the mass

associated with fat necrosis gradually disappears. Diagnostic imaging studies are

usually insufficient (86). As a rule, the safest course is needle-core or excisional

biopsy of the entire mass to rule out carcinoma. Fat necrosis is common after

segmental resection and radiation therapy or native tissue reconstruction (87).

PAIN

Mastitis and Breast Abscess

Lactational Mastitis and Abscesses

Infection in the breast is rare unless the patient is lactating or has experienced an

injury. Lactational mastitis must be distinguished from lactational abscess (3).

During lactation, an area of redness, tenderness, and induration frequently

develops in the breast. [5] Lactational mastitis is caused by transmission of

bacteria during nursing and poor hygiene. The organism most commonly

found in lactational mastitis and abscesses is Staphylococcus aureus (88). If

lactational mastitis is diagnosed, manual pressure, antibiotics, and continued

breastfeeding are recommended. In its early stages, the infection often can be

treated while breastfeeding is continued by administering an antibiotic such as

dicloxacillin 250 mg four times daily, or oxacillin 500 mg four times daily, for 7

to 10 days. [5] If the lesion progresses to a localized mass with local and

systemic signs of infection, an abscess is present. It should be drained,

percutaneously, and breastfeeding should again be encouraged to continue

(89).

Nonlactational Abscess

Rarely, infections or abscesses may develop in young or middle-aged women who

are not lactating (90). The approach to nonlactational abscess is conservative

(91,92). A suspected abscess should be evaluated with ultrasonography to detect

the presence of an inflammatory mass, frank pus, solitary cavity, or a

multiloculated abscess (93). Aspiration of pus, if present, and antibiotic therapy is

instituted with reaspiration, if necessary (93). When the fluid collection is large,

percutaneous drain placement is an option (89). A single aspiration is sufficient in

about one-half of patients (94). Recurrent abscess formation is low (10%), in

general, but much higher in smokers (94). Bacteriologic analysis of 190 abscesses

in nonlactating and lactating women showed a preponderance of gram-positive

1081cocci. S. aureus was the most common organism isolated (51.3%). Of these, 8.6%

were methicillin-resistant S. aureus (MRSA), but rates of MRSA are expected to

rise as colonization rates increase in the general population. Other common

organisms included mixed anaerobes (13.7%) and anaerobic cocci (6.3%) (93).

[5] If these infections recur after multiple aspirations, incision and drainage

followed by excision of the involved lactiferous duct or ducts at the base of

the nipple may be necessary during a quiescent interval. In virtually all cases,

mammillary sinus (lactiferous duct fistula) can be confirmed as the cause of

reinfection or persistent infection (95). Inflammatory carcinoma is a consideration

when erythema of the breast is present. Patients should not undergo prolonged

treatment for an apparent infection unless biopsy eliminated the possibility of

inflammatory carcinoma. Patients who smoke should be counselled regarding

smoking cessation.

Subareolar Abscess and Lactiferous Duct Fistula

Subareolar abscess and fistula of the lactiferous ducts secondary to squamous

metaplasia can occur (95). The distal duct can be occluded with inspissated

debris. Several large reviews report a high association of lactiferous duct fistulae

with tobacco smoking (95). The definitive treatment for lactiferous duct sinus is

excision of the lactiferous duct and drainage of the abscess cavity. [5] The

recurrence rate is greater when only incision and drainage is performed

(3,95).

Granulomatous Mastitis

Granulomatous (lobular) mastitis is characterized by an inflammatory phlegmon

of the breast that is often tender, painful, and associated with skin ulceration. It

may be confused with multiple recurrent abscesses or even cancer. It occurs most

frequently in parous women (96). Granulomatous mastitis may be associated with

hyperprolactinemia but is idiopathic. Diagnosis is by CNB, which will

demonstrate noncaseating granulomata surrounding the breast lobule. Culture of

the tissue should be sent to rule out other causes of granulomata such as

tuberculosis. Therapy for granulomatous mastitis is observation alone and the

process usually resolves within 9 months to 1 year (96). A short course of

antimicrobial therapy may be useful in patients with positive cultures.

Mondor Disease

The Mondor disease is superficial thrombophlebitis of the thoracoepigastric vein

presenting as pain and erythema of the breast progressing to a palpable cord.

Therapy is supportive care with warm compresses and nonsteroidal anti-

1082inflammatory medication.

Mastalgia

Mastalgia is a recognized organic condition that is studied less thoroughly than

other breast problems and a challenge to treat (97). The etiology is believed to be

hormonal (63). Approximately 70% to 80% of women experience severe breast

pain at some time in their lives and mastalgia is the most common breast

symptom causing women to consult physicians (63,98). For one in six of these

patients, the mastalgia is so severe that it alters lifestyle and requires repeated

investigations and treatment. Mastalgia interferes with sexual function in 40% of

affected women and sleep in 35% (99). Social relationship, work, and athletic

performance have been reported to suffer (99).

Types of Mastalgia

[3] Breast pain is a distressing constellation of symptoms that is classified as

cyclic, noncyclic, or extramammary (97). Cyclic mastalgia is related to

exaggerated premenstrual symptoms beginning in the luteal phase of the

menstrual cycle, associated with breast engorgement, pain, ache, heaviness, and

tenderness that is bilateral and can last for more than 1 week in some women

(63,97,100). Cyclical mastalgia is more prevalent in women in their third and

fourth decades of life and accounts for two-thirds of all breast pain symptoms

(63). Noncyclic mastalgia is independent of menstrual cycles and is described as

achy, burning soreness. It may be intermittent or constant, is usually unilateral,

occurs in the fourth and fifth decades, and is more difficult to treat than cyclic

mastalgia (63). Extramammary pain is perceived to be located in the breast but

is related to an extramammary site. Chest wall muscular pain, costal cartilage

symptoms, herpes zoster, radiculopathies, and rib fractures are among some of the

more common causes of extramammary pain. Costochondritis (Tietze syndrome)

is a manifestation of chest-wall pain that is frequently interpreted as breast pain.

Management of Mastalgia

[3] Breast pain is an unlikely symptom of malignancy, and when malignancy

is excluded by a clinical breast examination and age-appropriate breast

imaging for focal breast pain, the most important treatment is reassurance

(98,101). Reassurance of the benign nature of mastalgia alone provides an

improvement in complaints (97). For patients with persistent symptoms,

suggested treatments have spanned the gamut of medications, lifestyle

modifications, vitamins and supplements, and local excision. Discontinuation of

hormone therapy may be effective in some women. Maintenance of a pain-

1083score diary is important to understand the relationship of pain to factors

such as the menstrual cycle, activities of daily living, and stress. Failure of

therapy can lead to increased depression and anxiety in patients and treatment of

this syndrome should not be neglected (100).

Effective nonpharmacologic therapy begins with appropriately sized external

support garments (97). The breast has minimal structural support and is at

significant risk for motion-related displacement resulting in mastalgia. The use of

external support to minimize breast motion appears to be effective in reducing

breast pain. An ill-fitting brassiere is associated with a threefold risk of mastalgia

(102). Wearing a brassiere that gives good support and protection, both night and

day, improved symptoms in the majority of women (97). The effect of a sports

bra was greater than that of hormonal modulation with danazol in randomized

trial (103). In a small randomized controlled trial, exercise was associated with an

improvement in the symptoms of mastalgia. Exercising thrice weekly yielded

greater improvement in the quality of life than reassurance and supportive

garments alone (104).

Topical nonsteroidal therapy is another option for women with mastalgia (105).

Gel formulations of NSAIDs often are used for analgesia. In one study, patients

were stratified by cyclic versus noncyclic pain and then randomized to treatment

with NSAIDs versus placebo. There was a significant reduction in cyclic and

noncyclic pain in all groups, but the magnitude of change was greater in the

treatment arms and similar for cyclic and noncyclic pain.

Hormone-modulating drugs, including toremifene, ormeloxifene, danazol,

bromocriptine, tamoxifen, and Depo-Provera, are recognized drug treatments for

mastalgia (97). All of these pharmacologic therapies are associated with

significant side effects that limit their general use and several are not approved by

the FDA. [3] Withdrawal of birth control pills or hormone therapy may be all

that is required to alleviate symptoms (63).

The next line of therapy for patients not responding to supportive garments,

exercise, and analgesic, is selective estrogen receptor modulators (SERM).

Treatment with the SERM tamoxifen demonstrated reduction in breast pain at 10

and 20 mg per day, with equivalent effects compared with danazol and

bromocriptine in most studies (97). Despite this, tamoxifen is not approved for

this use in the United States. Ormeloxifene is a nonsteroidal SERM, most often

prescribed as an oral contraceptive pill that shows equivalent effect to tamoxifen

for noncyclical breast pain (106). Notably, at 12 weeks of therapy 60% of patients

reported relief of symptoms, but this was not durable, and by 24 weeks, the

percentage of women reporting relief had dropped to 30% (106). Ten percent of

women in this trail developed ovarian cysts and other bothersome side effects

included menstrual irregularities and dizziness.

1084For patients with severe symptoms not responding to SERMs, a temporary

course of a hormonal-regimen such as danazol or bromocriptine might then be

considered, always weighing the benefits against the side effects. Danazol is a

synthetic androgen that suppresses release of pituitary gonadotropin, prevents

luteinizing hormone surge, and inhibits ovarian steroid formation (107). It is the

only medication approved by the U.S. Food and Drug Administration (FDA) for

mastalgia. The androgenic effects—acne, edema, change in voice, weight gain,

headaches, depression, and hirsutism—often are intolerable, and many patients

stop taking danazol even when symptoms are improved (108). It can be initiated

at doses of 100 to 200 mg twice daily orally for patients with severe pain and then

tapered to a lower dose of 100 mg per day (108).

Breast pain is increased in some individuals who have elevated prolactin (PRL)

levels induced by thyrotropin-releasing hormone (TRH) (107). Bromocriptine is a

dopamine antagonist that inhibits the release of PRL. Bromocriptine (2.5 mg

twice daily) given for 3 to 6 months is effective in reducing mastalgia in women

who have TRH-induced elevation of PRL with side effects of nausea, vomiting,

and headache (109).

The side-effect profile of hormone modulating treatments has prompted a

search for alternative therapies with vitamins, supplements, and herbal extracts.

None of these has clearly been shown to be more efficacious than placebo, but

they remain popular among patients because they are less likely to be associated

with adverse drug-related side effects (97). Evening primrose oil containing

essential fatty acids (γ-linolenic acid [GLA]) was originally studied because of its

effect on prostaglandin synthesis, but has failed to demonstrate efficacy over

placebo (97). GLA use was found to be safe, without any significant side effects,

and was prescribed as therapy for mastalgia because of its lack of side effects.

Chamomile extract, in very small randomized studies, has been found to lead to

an improvement in symptoms and may represent the safest nonhormonal

supplement option, although the true efficacy of all investigated supplements is

likely negligible (97,110).

Macromastia

Women with very large breasts frequently experience pain in the neck, shoulders,

back, and breasts secondary to the excess weight of their breasts. This pain tends

to worsen throughout the day (111). Macromastia may cause distortions in

anatomy and posture resulting in shoulders that are pulled forward and

compensatory hypertrophy of the trapezius muscle. Many women develop painful

grooves in the shoulders from support garments, which may become permanent

over time.

In patients with obesity, primary therapy should be directed at weight loss with

1085a goal of achieving a normal body mass index. If symptoms persist and fail to

improve with physical therapy, then a referral should be made for consideration of

reduction mammoplasty. In a survey of 400 women who underwent reduction

mammoplasty, 94% reported improvement in shoulder grooving, 93% in shoulder

pain, 81% in back pain, and 88% in self-esteem. Despite postoperative

complications in 53% of patients, 93% reported that they would have the surgery

again (112).

DISORDERS OF THE NIPPLE–AREOLAR COMPLEX

Nipple Discharge

Nipple discharge is a presenting breast symptom in relatively few patients seeking

evaluation of a breast symptom. In one report, 4.5% of patients presenting with a

breast complaint reported nipple discharge, with roughly half being spontaneous

and the remainder provoked (113). Nipple discharge that does not occur

spontaneously has no pathologic significance. Provoked or self-induced nipple

discharge should be managed by reassurance and instruction to discontinue

manipulation. Spontaneous nipple discharge is more likely to be associated with

an underlying pathologic problem than provoked discharge. [6] Although it is a

distressing finding, less than 10% of spontaneous nipple discharge is

associated with carcinoma (114). Nipple discharge can be caused by neoplastic

or nonneoplastic processes (115). Usually discharge caused by malignancy is

bloody, as is that caused by papillomas. Nonneoplastic processes include

galactorrhea, physiologic changes resulting from mechanical manipulation,

parous condition, periductal mastitis, subareolar abscess, fibrocystic change, and

mammary duct ectasia. Neoplastic causes of nipple discharge in nonlactating

women are solitary intraductal papilloma, carcinoma, papillomatosis, squamous

metaplasia, and adenosis (113,115). Extramammary causes are related to

hormones and drugs (115). [6] Following are the important characteristics of

the discharge and other factors to be evaluated by history and physical

examination:

1. Nature of discharge (serous, bloody, or milky)

2. Association with a mass

3. Unilateral or bilateral

4. Single or multiple ducts

5. Discharge that is spontaneous (persistent or intermittent) or expressed by

pressure at a single site or on the entire breast

6. Relation to menses

7. Premenopausal or postmenopausal

10868. Hormonal medication (contraceptive pills or estrogen)

Breast Papilloma

Unilateral, spontaneous, bloody, or serosanguineous discharge from a single

duct is usually caused by an intraductal papilloma or, rarely, by an

intraductal cancer. In either case, a mass may not be palpable. The involved

duct may be identified by pressure at different sites around the nipple and at the

margin of the areola. Bloody discharge is more suggestive of cancer but usually is

caused by a benign papilloma in the duct. In premenopausal women, spontaneous

multiple-duct discharge, unilateral or bilateral, is most marked just before

menstruation. It often is caused by fibrocystic change. Discharge may be green or

brownish. Papillomatosis and ductal ectasia are usually seen on biopsy. If a mass

is present, it should be removed. Milky discharge from multiple ducts in

nonlactating women presumably reflects increased secretion of pituitary PRL;

serum PRL and thyroid-stimulating hormone levels should be evaluated to detect

a pituitary tumor or hypothyroidism. Hypothyroidism may cause galactorrhea.

Alternatively, phenothiazines may cause milky discharge that disappears when

the medication is discontinued. Oral contraceptive agents may cause clear, serous,

or milky discharge from multiple ducts or, less often, from a single duct. The

discharge is more evident just before menstruation and disappears when the

medication is stopped.

[6] Chronic unilateral nipple discharge, especially if it is bloody, is an

indication for resection of the involved ducts. Mammography and

ultrasonography are performed to rule out an associated mass. On occasion,

ductography may be performed to identify a filling defect before excision of the

duct system, but usually this technique is painful and of little value (116).

Ductography is not a substitute for excision because it misses multiple lesions and

cannot visualize the periphery (117).

The role of cytologic examination of nipple discharge is unclear. It may

identify malignant cells and lead to an appropriate oncologic operation (116).

Negative findings do not rule out cancer and a CNB should be performed of any

underlying mass and may prompt further surgical therapy (117). Complete

histopathologic evaluation of the involved ductal system is the preferred method

of diagnosis if no mass is present. Cytologic assessment should not be relied on

for diagnosis.

The usual approach for nipple discharge is surgical excision through a

periareolar incision adjacent to the trigger point, the pressure point that elicits

nipple discharge (115). A microdochectomy of a single duct or a central duct

excision of the major subareolar ducts can be performed under local or general

anesthesia. The putative duct can be cannulated, methylene blue can be injected,

1087or a lacrimal probe can be inserted into the duct for localization. Ultrasound may

assist in localizing a focally dilated duct and allow for needle localization (118).

A resection of breast tissue for 3 to 5 cm, or until no bloody fluid can be

identified in the ductal system, is performed. Complications are rare, but the

patient must be warned of possible skin and nipple loss as a result of

compromised vascularity, change in nipple sensation, deformity, inability to

breastfeed, and recurrence if only a single duct is removed.

When there is a history of unilateral nipple discharge, localization is not

possible, and no mass is palpable, the patient should be reexamined every week

for several months. When unilateral discharge persists, even without definite

localization or tumor, surgical exploration should be considered if the discharge is

copious. The alternative is careful follow-up at intervals of 3 to 6 months.

Mammography should be performed every 6 months. Purulent discharge may

originate in a subareolar abscess and requires excision of the related lactiferous

sinus (119).

Duct Ectasia

Duct ectasia is another common cause of nipple discharge in peri- and

postmenopausal women. It is characterized by corkscrewing and dilation of the

subareolar ducts, which can be demonstrated on ultrasound, and by thick or

cheesy appearing discharge. Nipple retraction may be present due to involution

and foreshortening of the affected ducts (120). This benign condition is best

treated with reassurance, but occasionally may require excision for diagnosis.

Nipple Inversion and Retraction

In cases of nipple retraction, even a single tethered duct results in partial pulling

in of the nipple and a slit-like appearance (121). The term nipple inversion, on the

other hand, is reserved for cases in which the complete nipple is pulled in. This

may be congenital or acquired. Congenital nipple inversion is present in about 5%

of women, usually bilateral, and is a benign condition (122).

[6] Acquired nipple retraction or inversion must be carefully investigated,

including a full clinical evaluation with ultrasound and the addition of

mammography if the patient is more than 35 years old. This finding is most

commonly a result of duct ectasia or periductal mastitis, but may less commonly

be caused by carcinoma in 5% to 20%, or even by tuberculosis (122). If workup is

normal, reassurance, with ongoing clinical surveillance, is the only treatment

required.

Erosive Adenomatosis of the Nipple

1088Erosive adenomatosis is a rare benign condition of the nipple that mimics the

Paget disease (123). Patients seek treatment for pruritus, burning, and pain. On

clinical examination, the nipple can appear ulcerated, crusting, scaling, indurated,

and erythematous. The nipple can be enlarged and more prominent during

menstrual cycles (124). The differential diagnosis includes squamous cell

carcinoma, psoriasis, contact dermatitis, seborrheic keratosis, adenocarcinoma

metastatic to the skin, and unusual primary tumors of the nipple (123). Excisional

biopsy should be performed to diagnose the lesion. Local excision is curative

(124).

Accessory Breast Tissue

Approximately 1% of the population has accessory breast tissue (125). Most

commonly, this is polythelia, or the presence of a rudimentary nipple areola

complex, but may include varying degrees of breast glandular tissue in which

case it is referred to as polymastia or supernumerary breast. This tissue may be

found anywhere along the milk line running from the axilla to groin. Polythelia

most commonly occurs just below the normal breast and may even be confused,

at times, with a nevus. Polymastia occurs most frequently in the axilla (126). Not

infrequently, the accessory breast tissue may go unrecognized until the hormonal

changes of puberty or even pregnancy cause the tissue to become more

noticeable. Despite this, the majority of polythelia and polymastia remain

asymptomatic (125). It is important to note that normal benign and malignant

diseases of the breast may occur in the accessory tissue and all breasts should be

monitored should the patient elect not to have the tissue removed for cosmetic

reasons. Polythelia is associated with urogenital abnormalities and may be

associated with an increased risk of urogenital malignancy (127).

Identification of the accessory breast tissue should prompt ultrasound

evaluation of the urogenital organs.

BENIGN MAMMOGRAPHIC ABNORMALITIES

Diabetic Mastopathy/Lymphocytic Mastitis

This benign breast lesion often appears as an asymptomatic breast mass found

incidentally on imaging. Its ultrasonographic features can be quite concerning as

it appears as a hypoechoic solid mass with irregular margins, inhomogeneous

echotexture, and marked posterior shadowing (128). Diabetic mastopathy is

strongly associated with diabetes mellitus and felt to be autoimmune in nature. It

is hypothesized that, as a result of the hyperglycemic state, advanced glycosylated

1089end products are formed and act as neoantigens triggering an autoimmune

response (128). A CNB will show dense keloid-like fibrosis and periductal,

lobular, or perivascular lymphocytic infiltration (129). Diabetic mastopathy does

not require excision, but requires CNB to establish the diagnosis.

Pseudoangiomatous Stromal Hyperplasia

Pseudoangiomatous stromal hyperplasia (PASH) is a benign stromal proliferation

that shares some histologic appearance with angiosarcoma (130). PASH may

present as an area of increased density on physical examination or may be

incidentally identified on CNB done for another reason, but it is most commonly

identified on breast imaging as a solid, well-defined, noncalcified mass (131).

After a diagnosis has been clearly reached, it requires no further therapy.

Sclerosing Adenosis

Sclerosing adenosis may present as a palpable mass or mammographic

abnormality (132). This is a benign sclerosing lesion and the risk for subsequent

cancer is low (132). No treatment is needed.

Risk Lesions

[7] When found on CNB, these lesions represent an increased risk to the patient

of subsequent diagnosis of breast cancer in either breast. Historically, these

lesions were surgically excised because of the risk of finding concomitant

invasive cancer at final pathologic review. This suggestion was based on largely

retrospective data, but newer analysis suggests that surgical excision may be

overtreatment in many patients in whom these diagnoses represent only

generalized increased risk (133). Further prospective, multicenter trials are needed

to clarify this problematic issue.

Patients diagnosed with risk lesions should be counseled regarding surveillance

and risk reduction. The risk for development of invasive cancer is approximately

3.5 to 5 times that of the general population (133–136). Patients should continue

with yearly mammography and clinical breast examination. Her risk for

subsequent breast cancer may be decreased by avoidance of exogenous estrogens,

initiation of an exercise program, and a generally healthy lifestyle (108). Patients

with additional contributors to high risk may be considered for chemoprevention

with tamoxifen therapy.

Lobular Neoplasia

Lobular neoplasia is a spectrum of atypia with lobular hyperplasia (ALH) on the

more ordered end to the more distorted LCIS. Patients can be reassured that LCIS

1090is not an obligate precursor to lobular carcinoma. Historically, upgrade rates for

ALH were thought to range from 0% to 67%, with a mean of 9% (133). LCIS

upgrade rates were, on average, higher, with a mean of 18% and range of 0% to

60% (134). When limited to data for which imaging and pathologic concordance

was confirmed, only one invasive cancer was found in 337 cases and upgrade

rates to noninvasive cancer (ductal carcinoma in situ) in these patients was around

1% (133). Similar low rates have been reported in other recent retrospective series

(135–136). The 2017 [7] NCCN guidelines recommend close observation alone

for patients with atypical lobular hyperplasia or classic LCIS found on CNB

and felt to be concordant with imaging (35). These lesions should be followed

with repeat mammography at a 6-month interval to document stability. This

approach does not apply in cases of pleomorphic LCIS, for which little natural

history data is available. This is considered a more aggressive lesion, likely more

closely related to ductal carcinoma in situ than lobular neoplasia, and is managed

with excision to negative margins (138).

Atypical Ductal Hyperplasia

Unlike lobular neoplasia, ADH found with CNB has unacceptably high rates of

upgrade to invasive carcinoma found at surgical excision (133,138). In a recent

meta-analysis, the lowest possible upgrade rate of ADH to invasive carcinoma

was calculated to be 8% (133), and historical averages have been in the range

20% to 25% (139). Consequently, surgical excision is recommended for

patients with ADH (35).

Radial Scars

[7] Radial scars are sclerosing lesions most commonly encountered as incidental

findings in biopsies performed for other indications. When larger in size, they

may present as a mammographic speculated mass (3). Surgical excision is

recommended because the upstaging rate to invasive cancer is approximately 7%

(35,140). Following excision, patients remain at a mildly increased risk for

developing breast cancer relative to the general population. In a study of 880

women with radial scars who followed for an average of 20 years, the relative risk

of developing breast cancer at 10 years was 1.82 (141).

DISORDERS OF BREAST AUGMENTATION

Estimates indicate that greater than 11 million women worldwide have undergone

augmentation mammoplasty. Breast implants are usually placed under the

pectoralis muscle or in the subcutaneous tissue of the breast. Most implants are

made of an outer silicone shell filled with a silicone gel or saline. The

1091complications of breast implantation are significant.

Capsular Contracture

Rates of contracture vary in the literature from less than 10% to over 60%.

Capsular contraction or scarring around the implant, leading to firmness

and distortion of the breast, can be painful and sometimes requires removal

of the implant and capsule.

In a prospective study of nearly 1,000 patients, 6-year contracture rates were

4.6% for augmentation, 6.9% for revision-augmentation, 10.7% for

reconstruction, and 18.3% for revision reconstruction, with the majority of these

occurring within the first 3 years (142). Following the first 6 postoperative years,

contracture rates are estimated to be an additional 1% per year indefinitely (142).

Rupture

Implant rupture may occur in as many as 10% of women, and bleeding of gel

through the capsule is even more common (143). In 2006, the U.S. FDA

reapproved silicone gel–filled implants for use in women 22 years or older for

cosmetic purposes and for reconstruction after breast surgery or in women with

traumatic or congenital breast defects and recommended MRI screening for

implant rupture beginning 3 years after the first implant surgery and then every 2

years (144). The agency advised symptomatic women with ruptured implants to

discuss the need for surgical removal with their physicians. When there is no

evidence of associated symptoms, implant removal is generally not indicated

because the risks of removal are probably greater than the risk of retention.

Noncontrast MRI is very sensitive for detecting implant rupture, but is costly

(43). High-resolution ultrasonography, which is slightly less sensitive has been

suggested as a more cost-efficient alternative for use in asymptomatic individuals

(145–147). Even without rupture, seepage of silicone particles may lead to

palpable adenopathy caused by foreign-body reaction.

Breast Implant–Associated Anaplastic Large Cell Lymphoma

Breast implant–associated anaplastic large cell lymphoma (BIA-ALCL) is a rare

cancer, but has generated a large degree of patient and physician concern (148).

Its true incidence is unknown, but a study from the Netherlands estimates one to

three cases per million women with breast implants per year, while a US study

calculated the lifetime risk to be approximately 1:30,000 in patients with implants

(149,150).

The typical presentation is that of a seroma surrounding an implant more than 1

year after placement of implant without history of recent trauma, but BIA-ALCL

1092may less commonly present as a mass (151). Patients with an unexpected seroma

should be evaluated with aspiration of the fluid followed by

immunohistochemistry for CD30. Diagnosis may be confirmed by a T-cell clonal

population on flow cytometry and large anaplastic cells on cell block cytology.

Treatment includes complete excision of the implant, caps

Nhận xét