Investigations for Suspected Paget's Disease of the Breast
Initial Diagnostic Approach
For any patient with suspected Paget's disease of the breast (presenting with nipple eczema, ulceration, bleeding, or itching), perform bilateral diagnostic mammography with or without ultrasound as the first imaging study, followed by full-thickness biopsy of the nipple-areolar complex regardless of imaging results. 1
Clinical Assessment
- Conduct a complete history and physical examination with careful assessment of the nipple-areolar complex, specifically looking for eczema, bleeding, ulceration, and itching of the nipple 1
- Document the duration and progression of symptoms, as Paget's disease diagnosis is often delayed due to confusion with benign dermatologic conditions 2
Imaging Studies
Bilateral diagnostic mammography with or without ultrasound is mandatory as the initial imaging study, regardless of patient age 1
Critical caveat: Pure Paget's disease is frequently occult on mammography, and a negative mammogram does NOT exclude the diagnosis 2, 1. Mammographic findings may be negative in up to 50% of cases 3.
Tissue Diagnosis
The biopsy approach depends on imaging findings:
If Imaging Shows BI-RADS Category 1-3 (Negative, Benign, or Probably Benign):
- Perform punch biopsy of the skin or nipple biopsy 2, 1
- Full-thickness surgical biopsy of the nipple-areolar complex that includes the epidermis and at least a portion of any clinically involved nipple-areolar complex is recommended 1
If Imaging Shows BI-RADS Category 4-5 (Suspicious or Highly Suggestive of Malignancy):
- Core needle biopsy (preferred) with or without punch biopsy should be performed 2, 1
- Surgical excision is also an option 2
If Initial Biopsy is Benign but Clinical Suspicion Remains:
- Reassess clinical and pathologic correlation 2
- Consider breast MRI, repeat biopsy, and consultation with a breast specialist 2, 1
Advanced Imaging After Diagnosis Confirmation
Breast MRI is strongly recommended once biopsy confirms Paget's disease to define the extent of disease and identify additional underlying malignancy 1, 3
Rationale: Up to 80-90% of Paget's disease cases have associated cancer elsewhere in the breast (either DCIS or invasive cancer), and these cancers are not necessarily located adjacent to the nipple-areolar complex 1. MRI can identify underlying malignancy that may be occult on mammography and is critical for surgical planning 3, 4.
Additional Workup After Positive Biopsy
- Core biopsy of any breast lesion identified on imaging 2
- Consider chest imaging if metastatic disease is suspected 2
Common Pitfalls to Avoid
- Do not mistake Paget's disease for benign eczema or dermatitis - if in doubt, perform a biopsy 1
- Do not rely on negative mammography to exclude Paget's disease - proceed with biopsy based on clinical suspicion 2, 1
- Do not delay biopsy with prolonged trials of topical steroids - a short trial may be considered only if clinical suspicion for eczema is high, but should not delay diagnostic evaluation 1
- Do not accept a single benign biopsy result if clinical suspicion remains high - repeat biopsy and consider MRI 2, 1