Representation of the left breast with a 2 cm palpable mass in the upper outer quadrant at 1’o clock position, 6 cm from the nipple.
Inspection of the breasts should be performed with the patient in sitting up and leaning forward positions, first hands on her sides and then on her hips. The breasts should be inspected for size, symmetry, skin changes, dimpling or retraction, edema or ulcerations, and scars from previous biopsies. The nipples are inspected for any asymmetry, inversion, eczema-like skin changes, and nipple discharge. Erythema of the breast can be a sign of an infection or inflammatory carcinoma of the breast. An eczematous appearing skin rash represent Paget’s disease, which is a surface manifestation of an underlying malignancy. Any piercings and discharge or changes around the piercings should be noted.
Palpation of the breast tissue should be performed while the patient is supine with her arms behind her head. The examiner should use both the flat surface of the palm and pads of the fingers to palpate the breast tissue against the chest wall in a systematic fashion, either concentric circles from the nipple or vertical grids, so as to cover the entire breast.[6] Any abnormal finding should be noted as demonstrated in Figure 34-1. A mass should be noted for its location, size, mobility or fixity from the surrounding tissue, consistency (whether fluctuant, firm, or hard), smooth or irregular borders, and any associated retraction or edema of the overlying skin. The sub-areolar nipple complex should be examined in a similar manner and gently compressed to elicit discharge. Nipple discharge should be described for its laterality, color, involvement of single or multiple ducts, spontaneity versus expressed, and volume.
Palpation of the axillary, supraclavicular, and subclavian nodes in a sitting position completes the breast examination.
Diagnostic modalities
Mammography
Mammography is currently the best available imaging tool for detecting breast cancer. The procedure utilizes application of low dose radiation through compressed breast tissue to obtain multiple images of the inner structure of the breast. Full-field digital mammography has mostly replaced screen film mammography because of the use of a lower dose of radiation, the ability to manipulate images to obtain an optimal view, electronic storage, and easy accessibility. Digital mammography has been reported to be more accurate in premenopausal women younger than 50 years of age with dense breasts on mammography.[7]
Mammographic screening has the potential to detect a nonpalpable mass as small as 1 mm, at least three years or more before it increases to a palpable size of about 2 cm.[8] Tumors detected at an early stage are more likely to be optimally treated with lesser interventions, resulting in better quality of life and improved five-year survival rate. The sensitivity of screening mammography ranges from 83% to 95% and specificity rates between 90% and 95%.[9]
A 2011 Cochrane review assessed the effect of screening for breast cancer with mammography on mortality and morbidity; seven randomized trials were found to be eligible. Only three of these seven trials were noted to have adequate randomization and failed to show a significant reduction in breast cancer mortality after 10 years. When all seven trials were combined, the mortality rate was significantly lower.[10] However, another analysis suggests a decrease in the mortality rate in women older than 40 by 28% since screening mammography was introduced; several observational studies make a similar claim.[9]
Limitations of screening mammography include:
False positive results. An almost 10% recall rate requires further testing; only 5% of these women have cancer.
Overdiagnosis or finding of clinically insignificant cancers which may not have progressed. Rates are variable, ranging from 0% to more than 30%.[2]
Decreased sensitivity in dense breasts leads to confusion and patient anxiety. A possible need for additional studies using ultrasonography or magnetic resonance imaging (MRI) then exists.
Decreased sensitivity in younger women (under 30–35 years of age) exists due to higher breast density.
Breast cancers screening recommendations are highly controversial for women who are at average risk of breast cancer. The American Congress of Obstetricians and Gynecologists (ACOG) recommends initiating mammography annually at the age of 40 and clinical breast examination along with self-breast awareness starting at age 20. Updated 2015 guidelines from the American Cancer society, recommended initiating breast cancer screening at age 45.
Risks, benefits, and possible outcomes of screening mammography should be discussed with eligible patients, and screening recommendations individualized based on a woman’s risk of breast cancer.
Indications for diagnostic mammography include the following:
to evaluate breast masses and suspicious breast changes reported clinically
to evaluate patients with pathological nipple discharge or eczematous skin changes for underlying malignancy
to search for occult breast cancer in patients suspected of having a primary cancer of unknown location and metastasis to axillary lymph nodes[11]
to obtain stereotactic breast biopsies in patients who have suspicious micro calcifications on a screening mammography
Ultrasonography
Breast ultrasonography is used as an adjunct to mammography to characterize breast findings or to screen dense breasts. It is the preferred modality to differentiate a solid from a cystic mass. Ultrasonography is the test of choice when evaluating younger patients (less than 30 years of age) with breast complaints or those who are pregnant or lactating. It can be used as an adjunct for screening with MRI in women who are at high risk for breast cancer. It is an excellent tool for guiding interventional procedures such as core needle biopsies, cyst aspiration, or drainage of breast abscess. The accuracy of the findings is highly dependent on operator technique and availability of high-resolution, real-time, linear array scanners.
The use of combined ultrasonography and mammography has been advocated to improve the detection of benign etiologies for palpable findings, thus, reducing the need for unnecessary biopsies. The addition of ultrasonography can increase the ability to detect cancers that are occult on mammography by 93%–100%. The negative predictive value can be more than 97% when mammography and ultrasonography findings are negative in the setting of a benign palpable mass.[12]
Magnetic resonance imaging
Contrast-enhanced breast MRI is currently being used as an adjunct for screening high-risk patients for breast cancer, especially those who are younger and have dense breast tissue. It is best used as part of a multimodality approach (along with mammography and ultrasonography) in detecting disease in high-risk women with dense breasts. The sensitivity reaches almost 100% with a specificity of 65%.[9]
Fine needle aspiration cytology
Fine needle aspiration cytology (FNAC) is an office-based procedure that involves collection of cellular material or cyst aspirate with a 23-gauge needle and preparation of direct smears for submission for cytological analysis. The procedure is operator dependent and can result in high inadequate rates, sampling errors, and false positive or false negative diagnosis.[4] Even in experienced hands, aspiration cytology can yield a false negative rate of up to 15% for breast cancer in patients with a palpable mass.[13] FNAC is an excellent, cost-effective tool where resources are limited; however, it should be performed by an experienced cytopathologist for optimum results.
Core needle biopsy
Tissue biopsy obtained by image-guided core needle biopsy (CNB) or excisional biopsy remains the gold standard for evaluation of suspicious or equivocal breast findings. Core biopsy of a palpable mass has been shown to be more sensitive, specific, and accurate in histological grading than FNAC.[12]
Evaluation of the breast mass
Introduction
A palpable breast mass is the most reliable clinical indicator of breast cancer. Breast cancer is the most common female cancer and the second leading cause of cancer-related death for women in the United States. About 1 in 8 women (12%) in the United States develop invasive breast cancer during their lifetime. It is estimated that in the year 2015, more than 2 million new cases of invasive breast cancer will be diagonised and 40,000 women will die of breast cancer in United States.[2] Age is the strongest risk factor for breast cancer, but 70% of women diagnosed with breast cancer have an additional identifiable risk factor. There are several models to help stratify breast cancer risk for any individual woman. The most widely used is the Gail model, which estimates five-year and lifetime breast cancer risk (see www.cancer.gov/bcrisktool).
Scope of the problem
In women presenting with breast masses, age plays the most important role. In a study of 542 women younger than age 30 and with palpable breast masses, only 2% were found to have invasive breast cancer; 72% of the masses were fibroadenomas, 8% fibrocystic changes (a term no longer used), 6% phyllodes tumor, 5% other, 4% breast cysts, and 3% breast abscess or mastitis.
Although a majority of the palpable masses in younger women are benign, a low index of suspicion for cancer can harmfully delay diagnosis and treatment in this age group.[15] A validated approach is needed to identify those who can be conservatively managed versus those who need surgical intervention. In contrast, older women with a palpable mass would need a more aggressive approach, including tissue diagnosis to rule out cancer and high-risk lesions.
Evaluating patients with a palpable breast mass
Evaluation of a woman with a palpable breast mass should always begin with a complete history, cancer risk assessment, and thorough breast examination as detailed earlier in this chapter. An attempt should be made to classify the findings as clinically benign, clinically suspicious, or indeterminate to guide further management.
A clinically benign mass is generally smooth, firm or soft, freely mobile, with distinct smooth margins, and absent of nodularity. There is an absence of breast tissue retraction, overlying skin or nipple changes, or palpable axillary lymph nodes. Age-based diagnostic imaging is recommended, and a percutaneous needle biopsy is preferable for patients who prefer conservative management (see Table 34-1). Patients with higher risk for cancer based on family or personal history or known BRCA mutation or other inherited syndromes should be referred to a breast surgeon.
A clinically suspicious mass is generally firm to hard, immobile, and fixed to surrounding parenchyma with poorly defined margins. Associated changes of overlying skin or nipple-areolar complex (edema, puckering, retraction, ulceration, rashlike lesion), or axillary lymphadenopathy may be present. Women who have findings suspicious for malignancy should be referred to a breast surgeon for tissue diagnosis.
Indeterminate findings are those of a clinically undetected mass or presence of multiple glandular lumps, focal thickening, or asymmetric nodularity. Such patients should have a repeat breast examination after one or two months in the early phase of the menstrual cycle. In case of focal thickening, a diagnostic mammography and/or ultrasonography are recommended. If symptoms are persistent and findings unclear on breast examination, the patient should be referred to a breast specialist and diagnostic imaging obtained.
| Patient age (in years) | Diagnostic imaging | Result (in relationship with clinical findings) | Management |
|---|---|---|---|
| <30 | Targeted breast ultrasonography | Concordant | Repeat ultrasonography every 6 months for 2 years to determine stability, with or without; percutaneous needle biopsy; (biopsy recommended in high-risk patients) |
| Discordant | CNB or referral to breast surgeon for excisional biopsy | ||
| >30 | Diagnostic mammography +/– targeted breast ultrasonography | Concordant | Image-guided CNB or excisional biopsy recommended; or repeat breast imaging and CBE every 6 months for 2 years acceptable (if risk of malignancy is less than 2%) |
| Discordant | Biopsy recommended; urgent referral to breast surgeon | ||
| All ages | Breast ultrasonography +/– diagnostic mammography | Simple cyst | Repeat ultrasonography and CBE every 6 months for 2 years; routine screening mammography >40 years of age; needle aspiration if enlarging, painful cysts; biopsy or surgical excision if aspirate is dry or bloody |
| Complex cyst | Referral to breast surgeon; excision of cyst or CNB recommended |
Common benign breast masses
Fibroadenomas are the most common benign breast masses in younger women and adolescents.[16] They present as well circumscribed, nontender, smooth, mobile, firm, and rubbery lesions measuring 2 cm–3 cm in diameter. They are usually single and unilateral. Approximately 10%–20% of fibroadenomas can be multiple and 10% are bilateral.[17] Giant fibroadenomas exceed 6 cm in size and can enlarge to 10 cm–15 cm. A giant fibroadenoma can mimic Phyllodes tumor, which has a malignant potential and needs to be surgically excised.
Sonographically, a fibroadenoma appears well encapsulated and uniformly hypo echoic. Diagnosis is based on ultrasonography and/or diagnostic mammography. Tissue biopsy is recommended for mass size greater than 2 cm, or unclear radiological findings.
Natural history of fibroadenomas is that of regression in up to 50% of patients, growth in 25%, and no change in 25% after five year of surveillance.[18] A conservative approach involving percutaneous biopsy and long-term surveillance is cost-effective and associated with less morbidity compared to excisional biopsies in younger women.[15] Surgical excision is recommended in older women and in those with giant fibroadenomas or proliferative atypical lesions on histopathology. Cosmetic and less invasive procedures such as vacuum assisted removal or cryoablation performed in the office is suggested by some experts for smaller fibroadenomas.[19]
Phyllodes tumors are rare and account for <1% of breast tumors in all age groups.[20] These are fibroepithelial tumors with malignant potential which are difficult to distinguish from a fibroadenoma clinically or radiologically.[11] Diagnosis is established by core needle biopsy. Referral to a breast surgeon is recommended; treatment is wide local excision.
Breast cysts are most commonly seen between 35 and 55 years of age. Breast cysts can be multiple and bilateral. Palpable cysts can enlarge and may become painful in the premenstrual phase of the cycle. Cyst recurrence is seen in 30% of patients.
Diagnosis is established by breast sonography. Simple cysts appear smooth with thin walls and an absence of internal echoes. They are benign. A needle aspiration of the cyst fluid can be performed for painful cysts. The aspirate is usually straw to green colored. Tissue biopsy or excision of the cyst is recommended when the needle aspirate is dry, bloody, or thick or when ultrasonography features suggest an intracystic mass, internal echoes, or complex cyst.[11] Simple cysts are managed by close surveillance.
Hamartomas are rare benign breast tumors most commonly seen among women aged 30–50 years.[20] They account for 0.7%–4.8% of benign breast tumors and are characterized by disorganized overgrowth of mature breast tissue elements.[21] Hamartomas are palpable, painless, well-circumscribed, and mobile masses that are often misdiagnosed as fibroadenomas clinically and radiologically. A tissue biopsy is often necessary to confirm the diagnosis and also to identify any atypical features. In the absence atypical features, hamartomas can be managed by observation alone. Breast hamartomas have been reported in association with Cowden syndrome, which is characterized by the presence of multiple hamartomas in the breasts as well as the skin and mucus membranes of other anatomical locations. Patients with Cowden syndrome are at an increased risk of developing breast, thyroid, endometrial, and other cancers.
Lactating adenomas are the most common cause of palpable breast masses during pregnancy and lactation period. They present as well circumscribed masses, measuring up to 4 cm, which usually involute after completion of lactation. They can be complicated by infarction or hemorrhage in 5% of cases. A tissue biopsy is usually needed to confirm diagnosis. Surgical excision is recommended if the mass persists or grows.[20]
Nipple discharge
Introduction
Nipple discharge (ND) is a common breast complaint reported by up to 10% of women presenting for routine examination.[22] Incidence of breast carcinoma in patients with nipple discharge, who undergo operative excision, is reported to be 9.3%–21.3%.[23] Most women who present with ND have benign disease, but up to 15% of patients have an underlying malignancy and 7%–10% have an underlying high-risk lesion (HRL), such as atypical ductal hyperplasia or lobular carcinoma in situ.[22]
Scope of the problem
In a retrospective study of 416 patients, 129 patients (31%) were diagnosed to have physiological ND and were managed expectantly.[22] At a median follow-up of 18 months, 128 of 129 patients (99%) remained with no evidence of disease. The remaining patient (<1%) presented with an invasive ductal carcinoma at an interval of eight years or more. Her cancer was unrelated to the nipple-areolar complex and was not associated with persistent ND.[22]
Subsequently, 287 of the 416 (69%) patients were diagnosed to have pathological discharge and underwent image-guided diagnostic biopsies and/or surgical duct excision. A causative lesion was identified in 90% of these patients, of which 37% were either malignant or HRL. The authors of the study concluded that neither the clinical characteristics nor preoperative studies such as cytology, diagnostic imaging, or ductography could reliably distinguish between benign and malignant pathology. Surgical duct excision, therefore, was found to be the gold standard to exclude underlying malignancy in patients with pathological nipple discharge.[22]
Evaluating patients with nipple discharge
A clinical stratification can reliably distinguish patients with physiological nipple discharge who can be managed expectantly from those with pathological ND who need referral to a breast surgeon (see Table 34-2).
