What is the appropriate evaluation and management for a patient experiencing breast enlargement?

Evaluation and Management of Breast Enlargement

For any patient presenting with breast enlargement, proceed directly to imaging evaluation with ultrasound as the first-line modality, followed by diagnostic mammography based on age and clinical suspicion, with tissue biopsy required for any suspicious findings to definitively exclude malignancy. 1

Initial Clinical Assessment

Key Historical Elements to Obtain

• Duration and rate of progression (rapid growth over weeks to months suggests phyllodes tumor or malignancy; gradual enlargement over years more consistent with benign processes) 2, 3
• Pain characteristics (tenderness suggests gynecomastia in males or benign processes; painless masses raise concern for malignancy) 1, 3
• Unilateral versus bilateral presentation (unilateral masses require more aggressive workup; bilateral suggests hormonal/physiologic causes) 1, 3
• Associated symptoms: nipple discharge (spontaneous, unilateral, single-duct, bloody discharge warrants full evaluation), skin changes (erythema, peau d'orange, eczema), systemic symptoms 1
• Medication history (many drugs cause gynecomastia in males; hormonal medications relevant in females) 1, 4
• Personal and family history of breast cancer (significantly increases suspicion for malignancy) 3

Physical Examination Specifics

• Measure and document mass size and exact location 1
• Assess mass characteristics: mobility, consistency (soft/rubbery suggests gynecomastia; firm/hard raises cancer concern), borders (circumscribed versus irregular) 1, 3
• Nipple examination: discharge (test for blood), retraction, eczema, scaling 1
• Skin assessment: erythema, edema, dimpling, ulceration 1
• Lymph node examination: axillary, supraclavicular nodes 1
• Contralateral breast examination 1

Imaging Algorithm by Patient Demographics

For Females Age 30 and Older

• Proceed directly to diagnostic mammography AND targeted ultrasound of the palpable area 1
• Both modalities are complementary and should be performed together 1
• Ultrasound has the highest sensitivity for detecting breast cancer in this context 1

For Females Younger Than 30 Years

• Begin with ultrasound as the preferred initial imaging 1
• Add diagnostic mammography only if: ultrasound findings are highly suspicious (BI-RADS 4-5), clinical examination highly suspicious, or patient has high-risk personal/family history 1
• Exception: If clinical suspicion is low and ultrasound negative, observation for 1-2 menstrual cycles is acceptable, with repeat ultrasound if mass increases or clinical suspicion rises 1

For Pregnant or Lactating Women

• Ultrasound is first-line imaging (highest sensitivity for pregnancy-associated breast cancer) 1
• Do not delay imaging evaluation—breast cancer in pregnancy/lactation is aggressive and commonly presents as palpable mass 1
• Consider having patient breastfeed or pump immediately before mammography if performed, to reduce density 1

For Males of Any Age

• If clinical examination clearly consistent with gynecomastia or pseudogynecomastia, imaging is NOT routinely indicated 1
• Proceed to mammography and ultrasound if: unilateral mass, hard or fixed mass, eccentric location (not directly subareolar), skin changes, nipple discharge, or any clinical suspicion for malignancy 1
• Gynecomastia typically presents as soft, rubbery, mobile, subareolar mass, often painful, frequently bilateral 1, 4, 5

Management Based on Imaging Results

BI-RADS Category 1-3 (Negative, Benign, or Probably Benign)

• If clinical examination also benign: Follow clinically every 3-6 months with imaging as needed for 1-2 years to confirm stability 1
• If clinical examination suspicious despite benign imaging: Proceed to tissue biopsy (imaging can miss up to 10% of cancers) 1, 2
• Resume routine screening if stable over observation period 1

BI-RADS Category 4-5 (Suspicious or Highly Suggestive of Malignancy)

• Core needle biopsy is mandatory and preferred over fine-needle aspiration 1, 2
• Core biopsy allows assessment of hormone receptors and HER2 status if malignancy found 2
• Surgical excision is alternative if core biopsy not feasible 1

Special Scenario: Skin Changes Present

• Perform bilateral diagnostic mammography ± ultrasound first 1
• Then proceed to punch biopsy of skin or nipple biopsy regardless of imaging results (to evaluate for inflammatory breast cancer or Paget's disease) 1
• Do not let normal imaging deter from biopsy when skin changes present 1
• Consider antibiotics only if infection suspected, but do not delay diagnostic evaluation 1

Critical Pitfalls to Avoid

• Never assume benign imaging excludes malignancy in the setting of a palpable mass—approximately 10% of DCIS and some invasive cancers present as palpable masses without suspicious imaging features 1, 2
• Do not perform needle sampling before imaging—this can distort anatomy and complicate interpretation 1
• In males, do not assume medication history or bilateral presentation excludes cancer—similar proportions of men with gynecomastia and breast cancer take gynecomastia-inducing drugs 3
• Do not delay evaluation in pregnant/lactating women due to concerns about radiation or hormonal changes—pregnancy-associated breast cancer is aggressive and delay worsens outcomes 1
• Imaging alone cannot distinguish DCIS from invasive cancer or definitively characterize any mass—histopathologic examination is required for definitive diagnosis 1, 2

When Observation is Acceptable

Observation without immediate biopsy is appropriate only when ALL of the following criteria are met:

• Patient is female and younger than 30 years 1
• Clinical suspicion is low 1
• Ultrasound shows either no abnormality or clearly benign features (BI-RADS 1-2) 1
• Patient can reliably return for follow-up 1
• Mass has been present for short duration without rapid growth 1

Even with observation, re-evaluate with ultrasound if any increase in size or clinical suspicion develops 1