What is the recommended initial diagnostic procedure for an adult woman with a suspicious breast lesion, particularly those with a family history of breast cancer or abnormal mammogram results?

Types of Breast Biopsy and Their Indications

Image-guided core needle biopsy is the procedure of choice for most suspicious breast lesions requiring tissue diagnosis, offering superior accuracy, less invasiveness, and lower cost compared to surgical excisional biopsy. 1

Core Needle Biopsy (CNB)

Core needle biopsy is superior to fine needle aspiration (FNA) in terms of sensitivity, specificity, and correct histological grading of breast masses and should be used in most cases. 1

Key Advantages

• Provides histologic (not just cytologic) diagnosis, allowing distinction between invasive and in-situ disease 1
• Achieves 97% sensitivity and 94% agreement rate with surgical biopsy 2
• Requires minimum 3-4 cores for high diagnostic accuracy in palpable lesions 3
• Less scarring, fewer complications, faster recovery, and similar accuracy to surgical biopsy 1

Guidance Methods and Indications

Ultrasound-Guided CNB:

• Preferred when lesion is visible on both mammography and ultrasound due to patient comfort, efficiency, absence of radiation, and real-time needle visualization 1
• First-line for solid masses, complex cysts, and suspicious lymph nodes 1
• Allows biopsy of lesions difficult to access stereotactically (far posterior, axillary) 1
• Requires placement of marker clip with post-biopsy imaging to confirm accurate sampling 1

Stereotactic-Guided CNB:

• Indicated for microcalcifications without associated mass 1
• Used when lesion not visible on ultrasound 1
• Multiple cores required with specimen radiography to confirm adequate sampling of calcifications 1
• Desirable to leave some calcifications at site for accurate localization if DCIS diagnosed 1

Digital Breast Tomosynthesis (DBT)-Guided CNB:

• Appropriate when lesion only identified on DBT 1

Important Limitations

• Not ideal for very small breasts that cannot accommodate the biopsy probe 1
• Technical challenges with superficial lesions, extremely posterior locations, and widely separated calcifications 1
• Requires cooperative patient 1
• When DCIS diagnosed on CNB, invasive carcinoma found in approximately 20% at surgical excision 1

Vacuum-Assisted Biopsy (VAB)

Vacuum-assisted biopsy achieves 100% sensitivity and specificity, with diagnostic accuracy independent of number of cores sampled. 3

Specific Advantages Over Standard CNB

• Facilitates collection of adequate tissue without multiple needle insertions 1
• More effective for non-palpable lesions and detection of calcifications 3
• Particularly useful for complete removal of small lesions 1

Fine Needle Aspiration Biopsy (FNA)

FNA is generally not recommended as the initial diagnostic procedure for breast masses, though it may have limited utility in specific circumstances. 1

Limited Indications

• May be acceptable for palpable masses when cytopathologist available for real-time interpretation 1
• Useful for simple cyst aspiration (not for diagnosis) 1
• Can be used as part of "triple test" for palpable masses (physical exam, mammography, FNA) when all three concordant 4

Critical Disadvantages

• Cannot distinguish invasive from in-situ carcinoma 4
• Higher rate of inadequate specimens compared to CNB 4
• Requires follow-up tissue biopsy when atypia or malignancy identified 1
• Lower accuracy for non-palpable lesions 4
• No role for image-guided FNA in initial evaluation of palpable masses 1

Surgical Excisional Biopsy

Excisional biopsy is reserved for specific situations where percutaneous biopsy is not feasible or results are discordant. 1

Specific Indications

• Lesions with anticipated sampling errors 5
• Discordance between CNB findings and clinical/imaging findings 5, 6
• Indeterminate pathology results requiring definitive diagnosis 7
• Technical contraindications to percutaneous biopsy (patient comorbidities, lesion characteristics) 1
• Patient preference after shared decision-making 1

Wire-Localization Excisional Biopsy

• Required for non-palpable lesions undergoing surgical excision 1
• Uses needle-hook wire, dye injection, or combination 1
• May require multiple wires for precise localization 1
• Labeled craniocaudal and lateral films sent to operating room for surgeon orientation 1

Age-Specific Imaging and Biopsy Algorithm

For women <30 years:

• Ultrasound is first-line imaging due to low cancer incidence and radiation concerns 1, 8
• Add mammography only if ultrasound shows suspicious findings 1
• If clinical suspicion persists despite negative ultrasound, proceed to tissue sampling 7

For women 30-39 years:

• Either ultrasound or diagnostic mammography/DBT acceptable as initial imaging 1, 8

For women ≥40 years:

• Diagnostic mammography or DBT is initial imaging, followed by ultrasound 1, 8

Critical Pitfalls to Avoid

• Never proceed directly to biopsy without completing imaging workup, as post-biopsy changes may confuse subsequent interpretation 1, 8
• Never delay biopsy of BI-RADS 4-5 lesions while pursuing additional imaging 7
• Always verify concordance between pathology, imaging, and clinical findings—discordant results require additional sampling or surgical excision 7, 5
• Do not rely on FNA when CNB is feasible, as CNB provides superior diagnostic information 1
• Always place marker clip at CNB site to identify location if lesion entirely removed or disappears with treatment 1