A 50-year-old G4P4 woman comes in or a well-woman examination. She had used the contraceptive diaphragm or birth control until she went into menopause 1 year ago. Her amily history is unremarkable or cancer. Her surgical history includes a myomectomy or symptomatic uterine ibroids 10 years ago. On examination, her blood pressure (BP) is 120/74 mm Hg, heart rate (HR) is 80 beats per minute (bpm), and she is a ebrile. Her thyroid is normal on palpation. Her heart and lung examinations are normal. The breast examination reveals a 1.5-cm, mobile, nontender mass in the upper outer quadrant o the right breast. No adenopathy or skin changes are appreciated. Mammography and ultrasound examinations o the breasts are normal.
» What is your next step?
ANSWER TO CASE 47:
Dominant Breast Mass
Summary: A 50-year-old postmenopausal woman comes in for a well-woman examination. The breast examination reveals a 1.5-cm, mobile, nontender mass of the upper outer quadrant of the right breast. No adenopathy or skin changes are appreciated. Mammography and ultrasound examinations of the breasts are normal.
Next step: Core needle biopsy.
ANALYSIS
Objectives
1. Understand that a dominant breast mass requires tissue for histologic analysis.
2. Understand that the age of the patient is usually the biggest risk factor for breast cancer.
3. Understand that normal imaging of a palpable breast mass does not rule out cancer.
Considerations
This 50-year-old woman came in for a well-woman examination. The physical examination is aimed at screening for common and/ or serious conditions, such as hypertension, thyroid disease, cervical cancer (Pap smear), colon cancer (stool for occult blood), and breast cancer. A single 1.5-cm breast mass is palpated, without any associated skin changes, such as nipple retraction or dimpling of the skin. There is no associated adenopathy. Furthermore, the imaging tests (mammography and ultrasonography) are normal. Despite the normal imaging, there is a possibility that the breast mass is malignant. Therefore, biopsy of the mass is indicated.
The usual approach is a core needle biopsy based on palpation. Fine-needle aspiration is an acceptable diagnostic modality, but would not be able to discern ductal carcinoma in situ versus invasion. Needle biopsy is usually preferred rather than excision to better plan future surgeries. The combination of the clinical examination, the imaging, and the needle biopsy is called the triple test. When all three tests agree (benign or malignant), this concordant result is > 99% accurate. If any one parameter suggests cancer, even in the face of the other two being negative, most experts will recommend excision of the mass to assess for malignancy.
APPROACH TO:
Breast Masses
DEFINITIONS
DOMINANT BREAST MASS: A mass that, on palpation, is felt to be separate from the remainder of the breast tissue.
EXCISIONAL BIOPSY: Surgical procedure removing the entire mass.
SENTINEL NODE BIOPSY: Removal and examination of the first lymph nodes that cancer cells are likely to spread from the primary tumor, determined by injecting radioactive or color dye near the tumor, and probing the lymph nodes which are affected.
SKIN DIMPLING: Retraction of the skin, which is suspicious for an underlying malignancy, due to the cancer being fixed or pulling on the skin.
BRCA GENE MUTATIONS: BRCA1 gene is located on chromosome 17 and
BRCA2 gene is located on chromosome 13. These are tumor suppressor genes, such that a mutation in the gene confers a markedly increased risk of breast cancer and ovarian cancer.
INFLAMMATORY BREAST CANCER: A rare but aggressive type of breast cancer in which the cancer cells obstruct the lymphatic vessels of the skin and subdermal breast tissue. The presentation is warmth and redness and diagnosed by biopsy.
CLINICAL APPROACH
Breast cancer is the most common cancer in women, excluding skin cancer. It is the second leading cause of female cancer deaths in the United States, exceeded only by lung cancer. It is also the most frequently diagnosed cause of death from cancer in women worldwide. Established risk factors for breast cancer include age, personal or family history of breast cancer or precancerous lesions, reproductive factors (early menarche and late menopause), hormonal treatment, postmenopausal obesity, alcohol consumption, exposure to ionizing radiation, and genetic predisposition. The prevalence of breast cancer is age specific, and age is the most important risk factor. One in 2500 women will develop breast cancer at the age of 20 years; whereas 1 in 30 women will develop breast cancer at the age of 60 years, giving an overall lifetime risk of 1 in 8.
Early diagnosis improves survival. One common way breast cancer is first discovered is a mass palpated by the patient. Unfortunately, this frequently occurs at an advanced stage. Routine screening is preferable. Clinical breast examination every 3 years should be performed for women from ages 20 to 39 years. Routine self-breast examination is no longer recommended due to false positive rates; however, breast self awareness still has utility. In other words, the patient may be aware of the texture and consistency of her breasts and should report changes.
Women over the age of 40 years should have a yearly clinical breast examination and
Table 47–1 • INDICATIONS FOR BRCA TESTING
Recommended due to 20% risk
Patient has had both breast and ovarian cancer
Patient with ovarian cancer and close relative with ovarian cancer or premenopausal breast cancer
Patient with ovarian cancer who are o Ashkenazi Jewish descent
Patient with breast cancer at an early age (<50) and a close relative with breast cancer
Patient diagnosed with breast cancer below age 40 o Ashkenazi Jewish descent
Patient with a close relative with a known BRCA1 or BRCA2 mutation
Counseled about possible testing due to 5%-10% risk
Patient with breast cancer diagnosed below age 40
Patient with cancer o ovary, peritoneum or allopian tube o high grade, serous histology
(regardless o age)
Patient with breast cancer at early age (<50) and close relative diagnosed with breast cancer at
early age (<50)
Patient with breast cancer diagnosed at early age (<50) and o Ashkenazi Jewish descent
Close relative: f rst degree relative (mother, sister, daughter) or second degree relative (grandmother, granddaughter,
aunt, niece).
mammography according to ACOG (The American College of Obstetricians and Gynecologists) and American Cancer Society guidelines. In contrast, the United States Preventive Services Task Force recommend biennial mammography in women aged 50–74 years. However, mammography may be performed sooner if risk factors warrant the need. In general, age is the most significant risk factor for breast cancer, but other parameters are important to consider.
Mammograms carry a false-negative rate of up to 10%. Thus, any palpable dominant mass, regardless of mammographic findings, requires histologic diagnosis. Other imaging methods include breast ultrasound (handled or automated), tomosynthesis, magnetic resonance imaging (MRI) (with or without the administration of contrast material), positron-emission tomography, and positron-emission mammography. Those technologies are not alternatives to mammography for women with average risk of breast cancer.
Ultrasonography is an established adjunct to mammography, useful in evaluating young patients and other women with dense breast tissue and in differentiating a cyst from a solid mass. Magnetic resonance is the recommended imaging modality for screening women with 20% or greater lifetime risk of breast cancer including women with BRCA1 or BRCA2 gene mutation according to the American cancer society.
If a mammogram detects a suspicious lesion, a biopsy is usually performed. For nonpalpable lesions, the biopsy requires ultrasound-guided core needle biopsy or stereotactic core needle biopsy. In selected cases, excisional biopsy with needle localization may be required.
Nearly 30% of breast cancers have some familial component, but < 10% are caused by inherited mutations in major breast cancer susceptibility genes. A patient who has two first-degree relatives with breast cancer is a candidate for genetic testing, such as BRCA1 and BRCA2 testing. Patients of Ashkenazi Jewish ancestry are particularly of increased risk (see Table 47– 1). A mutation of the BRCA1 or BRCA2 gene is associated with a 60% to 70% risk of breast cancer. BRCA1 mutation is associated with a 40% to 50% of ovarian cancer, and BRCA2 mutation is associated with 12% to 20% of ovarian cancer. Identification of these risks also allow for risk-reduction medications and possibly surgery such as bilateral mastectomy or prophylactic salpino-oophorectomy after childbearing (See Table 47– 2).
CASE CORRELATION
See also Case 46 (Fibroadenoma) and compare the diagnostic approach to a younger patient with features consistent with a fibroadenoma versus an older patient with a breast mass.
COMPREHENSION QUESTIONS
47.1 A 36-year-old woman is noted to have a 2-cm palpable breast mass noted on physical examination. A mammogram is performed suggestive of a cyst. Ultrasound confirms a cystic mass. A fine-needle aspiration is performed with 8 cc of blood-colored fluid obtained. The mass is no longer palpable. Which of the following is the next best step for this patient?
A. Expectant management as the prognosis is excellent
B. Send the fluid for cytology
C. Lumpectomy and lymph node dissection
D. Tamoxifen therapy
TABLE 47–2 • SCREENING, MEDICAL AND SURGICAL PREVENTION OF
BREAST AND OVARIAN CANCER IN HIGH RISK PATIENTS
Prevention of breast cancer
Li estyle: early childbirth, breast eed; exercise, normal weight, minimize alcohol
Clinical examination every 6 months
Mammography annually beginning age 25-30
Consider MRI o breast beginning age 25-30 (not yet consensus)
Consider tamoxi en (raloxi ene or aromatase inhibitor may also be used)
Consider bilateral mastectomy age 35-40
Prevention of ovarian cancer
Pelvic examination every 6-12 months
Consider CA125 and pelvic ultrasound every 6-12 months
Consider oral contraceptive agent or 6 years
Recommend bilateral salpingo-ophorectomy at age 40 (reduces breast cancer and ovarian
cancer risk)
47.2 A 26-year-old woman is referred for genetic counseling because her mother died from breast cancer, and her sister has been diagnosed with breast cancer. The patient is noted to have a BRCA1 mutation. Which of the following best describes the genetic transmission of this disorder?
A. Autosomal dominant
B. Autosomal recessive
C. X-linked dominant
D. X-linked recessive
47.3 A 49-year-old woman is noted to have a 1.5-cm mass of the right breast. It is nontender, and there are no skin changes or adenopathy. The mammogram and ultrasound findings are normal. A core needle biopsy reveals an infiltrating intraductal carcinoma. Which of the following would most significantly impact on the patient’s prognosis?
A. Hormone receptor status
B. Lymph node status
C. Size of the primary cancer
D. Presence of skin changes
47.4 A 35-year-old G0P0 woman complains of right breast redness and tenderness. The patient denies a family history of breast or ovarian cancer. Which of the following is the next best step in managing this patient?
A. Antibiotic therapy to cover Staphylococcus aureus
B. Biopsy of the breast
C. Ultrasound of the breast
D. Begin combination chemotherapy
ANSWERS
47.1 B. When the fluid obtained from a breast cyst is straw-colored and the mass disappears, then the fluid can be discarded and no further therapy is needed. However, when the fluid is a different color such as bloody, then the fluid should be sent for cytology. Lumpectomy and lymph node sentinel node biopsy is performed for proven breast cancer for staging. Tamoxifen therapy may be used for postmenopausal women with estrogen receptor positive breast cancer after surgery.
47.2 A. A mutation to BRCA1 gene is associated with an increased risk of breast and ovarian cancer. This is an autosomal dominant disorder. H alf the offsprings would be affected, and both sexes would be equally affected.
47.3 B. The patient’s lymph node status is the most significant impact on the patient’s prognosis. Hormone receptor status does play some role but not as significantly as the lymph node condition. Infiltrating intraductal carcinoma is the most common histological subtype of breast cancer. The size of the primary tumor likewise does play a role. Optimally, the smaller the tumor, the better the survival.
47.4 B. This patient very well could have inflammatory breast cancer since she has redness and warmth of the breast and is not lactating. She is nulliparous. Chemotherapy should not be initiated until a diagnosis is made.
CLINICAL PEARLS
» A breast mass must be biopsied, regardless o the imaging results.
» Early detection o breast cancer leads to better survival.
» In general, the biggest risk actor or the development o breast cancer is age.
» Two irst-degree amily members with breast cancer suggest a amilial syndrome, such as mediated by the BRCA1 or BRCA2 gene.
» For women who test positive or BRCA1 or BRCA2 mutations, enhanced screening is recommended (such as twice-yearly clinical breast examinations, annual mammography, annual breast MRI, and instruction in breast sel -examination beginning at age 25 years or sooner based on earliest age onset in the amily), and risk reduction methods should be discussed.
» Women at the age o 35 years or greater with a amily history o breast cancer should have annual mammography.
» The most common cause o unilateral serosanguineous nipple discharge rom a single duct is intraductal papilloma.
» In iltrating ductal carcinoma is the most common histological type o breast cancer.
» A breast cyst in which the luid is straw-colored or clear and the breast mass upon aspiration disappears may be observed.
» Upon aspiration o a breast cyst, luid that is other than straw-colored should be sent or cytology, and a mass that persists a ter aspiration should be biopsied.
REFERENCES
American College of Obstetricians and Gynecologists. Breast cancer screening. ACOG Practice Bulletin
42. Washington, DC; August 2011. (Reaffirmed 2014.)
American College of Obstetricians and Gynecologists. H ereditary breast and ovarian cancer syndrome.
ACOG Practice Bulletin 103. Washington, DC; April 2009. (Reaffirmed 2015.)
www.myuptodate.com458 CASE FILES: OBSTETRICS AND GYNECOLOGY
Béatrice L.-S., Chiara S, Dana L, et al. Breast-cancer screening—viewpoint of the IARC working group.
N Engl J Med. 2015;372:2353-2358. DOI: 10.1056/ NEJMsr150436.
Hoffman BL, Schorge JO, Schaffer JI, et al. Breast disease. Williams Gynecology. 2nd ed. McGraw-H ill
Education; 2012:345-352.
Lentz GM, Lobo RA, Gershenson DM, et al. Breast diseases. Comprehensive Gynecology. 6th ed.
Philadelphia, PA: Elsevier Mosby; 2012:309-332.
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