Diagnostic Testing for Paget's Disease of the Breast

Initial Evaluation

The National Comprehensive Cancer Network recommends a complete history and physical examination with careful assessment of the nipple-areolar complex, looking for eczema, bleeding, ulceration, and itching of the nipple 1, 2
Bilateral diagnostic mammography with or without ultrasound is recommended as the first imaging study, regardless of patient age 3, 2
It is essential to be aware that pure Paget's disease can be occult on mammography, and a negative mammogram does not exclude the diagnosis 2

The National Comprehensive Cancer Network recommends 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 1
Punch biopsy of the skin or nipple should be performed if imaging findings are consistent with BI-RADS category 1-3 (negative, benign, or probably benign) 3, 4
Core needle biopsy (preferred) with or without punch biopsy is recommended if imaging findings are consistent with BI-RADS category 4-5 (suspicious or highly suggestive of malignancy) 3, 4

Breast MRI is strongly recommended when biopsy confirms Paget's disease to define the extent of disease and identify additional disease 1

Up to 80-90% of Paget's disease cases have associated cancer elsewhere in the breast, which may be either DCIS or invasive cancer 1
The associated cancers are not necessarily located adjacent to the nipple-areolar complex 1

The National Comprehensive Cancer Network recommends not mistaking Paget's disease for benign conditions like eczema or dermatitis; if in doubt, perform a biopsy 3
If clinically suspicious for Paget's disease but low suspicion for eczema, a short trial of topical steroids may be considered, but should not delay diagnostic evaluation 5
A benign skin biopsy result should prompt reassessment of clinical and pathologic correlation, consideration of breast MRI, repeat biopsy, and consultation with a breast specialist 2

Paget disease of the breast almost always presents unilaterally, affecting the nipple‑areolar complex of a single breast with eczema‑like changes, scaling, excoriation, bleeding, ulceration, and itching. (National Comprehensive Cancer Network guideline) 6
Neoplastic cells are found in the epidermis of the nipple‑areolar complex, and an underlying breast carcinoma (ductal carcinoma in situ or invasive carcinoma) is present in 80–90 % of cases. (NCCN guideline; evidence based on expert consensus) 7

Because Paget disease is strongly linked to an underlying breast cancer, comprehensive bilateral breast evaluation is required even though the disease itself is unilateral. (NCCN guideline) 7

Bilateral diagnostic mammography, with or without adjunctive ultrasound, is mandated as the initial imaging study to assess both breasts for any occult malignancy, not because bilateral Paget disease is expected. (NCCN guideline) 6
The rationale for bilateral imaging includes: (1) standard of care that mandates full‑breast assessment for any breast cancer diagnosis, and (2) the possibility that the associated underlying carcinoma may be located away from the nipple‑areolar complex. (NCCN guideline) 7

Clinicians should not interpret the bilateral imaging protocol as an indication that Paget disease commonly presents bilaterally; the imaging strategy is a universal approach for all breast malignancies to detect occult contralateral disease. (NCCN guideline) 6