Recommended guidelines for screening for underlying malignancy in extramammary Paget's disease based on anatomic subtype.

Introduction: Extramammary Paget's disease (EMPD) may be associated with an underlying internal adenocarcinoma, referred to as secondary EMPD. Differences in this association by EMPD anatomic subtype and implications for screening are not fully understood.

Objective: Define the rates of secondary EMPD and types of associated adenocarcinomas by EMPD anatomic subtype and propose a screening algorithm for underlying adenocarcinoma.

Methods: Systematic literature review of EMPD (January 1990-November 2022). One hundred twenty-two studies met the inclusion criteria. A multidisciplinary expert panel reviewed the recommendation statements on adenocarcinoma screening.

Results: Perianal EMPD was associated with a high rate of underlying adenocarcinoma (25%, primarily colorectal) compared with penoscrotal and vulvar EMPD (6% each, primarily of genitourinary origin). Thorough screening in perianal EMPD includes a colonoscopy, urine cytology, and computed tomography of the chest, abdomen, and pelvis. Cost-conscious screening tests in low-risk penoscrotal disease include urine cytology, heme-occult test, and prostate-specific antigen test (especially if under 70 years of age). For low-risk vulvar EMPD, urine cytology and mammography are recommended. EMPD with high-risk features may warrant more sensitive organ-specific testing.

Limitations: Selection bias; retrospective data without systematic follow-up.

Conclusions: Screening for underlying adenocarcinoma in EMPD should be guided by anatomic location.