What is the recommended diagnostic work‑up and management for a patient with suspected breast cancer?

Management of Suspected Breast Cancer

For suspected breast cancer, obtain core needle biopsy with complete biomarker analysis (ER, PR, HER2, Ki67) before initiating any treatment, combined with bilateral mammography and ultrasound of breast and axillae as the foundation of your diagnostic work-up. 1

Initial Diagnostic Work-Up

Imaging Requirements

• Bilateral mammography and ultrasound of breasts and regional lymph nodes are mandatory for all patients 1
• Breast MRI should be obtained for: familial breast cancer with BRCA mutations, breast implants, lobular cancers, suspected multifocality/multicentricity, or large discrepancies between conventional imaging and clinical examination 1
• MRI is also indicated before neoadjuvant chemotherapy or when conventional imaging is inconclusive 1

Pathological Confirmation

• Core needle biopsy (ultrasound or stereotactic-guided) is mandatory before any treatment 1
• The pathology report must include: histological type, grade, ER status, PR status, HER2 status, and Ki67 proliferation marker 1
• Place a marker (surgical clip, carbon) into the tumor at biopsy to ensure correct surgical resection site 1
• If axillary nodes appear suspicious on ultrasound, perform ultrasound-guided fine needle aspiration or core biopsy 1

Laboratory Assessment

• Full blood count, liver and renal function tests, alkaline phosphatase, and calcium levels 1
• Determine menopausal status; if uncertain, measure serum estradiol and follicle-stimulating hormone 1
• HBV testing before systemic therapy 1

Cardiac Evaluation

• If planning anthracyclines and/or trastuzumab, cardiac ultrasound or MUGA scan is essential 1

Staging for Metastatic Disease

Risk-Stratified Approach

• Routine metastatic work-up is NOT recommended for all patients 1
• Imaging of chest, abdomen, and bone is indicated only for: high tumor burden, aggressive biology, or symptoms/laboratory values suggesting metastases 1
• FDG-PET-CT may be useful when conventional methods are inconclusive and may replace traditional imaging in high-risk patients 1

Specific Indications for Metastatic Work-Up

The evidence shows a clear risk stratification: patients with T1-3N0-1 with ≤3 involved nodes have only 1.46% metastasis detection rate, while those with ≥4 involved nodes, T4, or N2 disease have 10.68% detection rate 2. Therefore:

• For early-stage disease (T1-2, N0-1 with ≤3 nodes): metastatic imaging is NOT routinely indicated 1, 2
• For locally advanced disease (T3-4, N1 with ≥4 nodes, or N2): perform chest imaging, abdominal ultrasound or CT, and bone scan 1, 2

Treatment Planning

Multidisciplinary Team Requirement

• Treatment must be provided by a specialized breast unit with medical oncologists, breast surgeons, radiation oncologists, breast radiologists, breast pathologists, and breast nurses 1
• Access to plastic/reconstructive surgeons, psychologists, physiotherapists, and geneticists when appropriate 1

Surgical Options

• Breast-conserving surgery with radiation therapy or mastectomy, depending on tumor characteristics 3
• Sentinel lymph node biopsy is standard for clinically node-negative disease 3, 4
• Wide local excision requires negative margins with careful histological assessment 3

Systemic Therapy Considerations

The treatment algorithm depends critically on tumor biology:

• For hormone receptor-positive disease: endocrine therapy is mandatory, with chemotherapy for tumors >1 cm or high-grade disease 3
• For HER2-positive disease: trastuzumab added to chemotherapy for one year 3
• For triple-negative disease: adjuvant chemotherapy is standard 3

Radiation Therapy

• Postoperative radiotherapy is strongly recommended after breast-conserving surgery 3
• Post-mastectomy radiation for high-risk features, even with negative lymph nodes 3

Critical Pitfalls to Avoid

• Never initiate treatment without core biopsy confirmation and complete biomarker analysis 1
• Do not order routine metastatic imaging for early-stage, asymptomatic patients—this leads to false positives (10-66% depending on modality) and unnecessary anxiety 2, 5
• Avoid performing sentinel node biopsy after neoadjuvant chemotherapy when possible, as this results in lower detection rates and higher false-negatives 1
• Do not rely on fine needle aspiration alone if preoperative systemic therapy is planned—core biopsy is mandatory 1

Genetic Counseling

• Genetic counseling and testing for germline BRCA1/2 mutations should be offered to patients from high-risk groups 1