BAPoma presenting as an incidental scalp papule: case report, literature review, and screening recommendations for BAP1 tumor predisposition syndrome

Abstract

Objective

BRCA1-associated protein 1 (BAP1) tumor predisposition syndrome (BAP1-TPDS) is associated with an increased risk for aggressive cancers. BAP1-inactivated melanocytic tumors (BIMTs) are observed in 75% of BAP1-TPDS, often presenting as early as the second decade of life. These lesions may serve as a predictive marker to identify patients who carry germline BAP1 mutations and thus are at higher risk of developing associated cancers. Early diagnosis for these malignancies is crucial for curative treatment.

Methods

We report a patient who presented with an incidental scalp papule for which biopsy was consistent with a BIMT. A review of literature was conducted by accessing the PubMed database to delineate present knowledge of BIMTs, assess recommendations for screening of germline BAP1 mutations, and evaluate cancer surveillance strategies for BAP1-TPDS associated cancers.

Results

Consensus in literature indicates that genetic evaluation should be encouraged in patients presenting with multiple BIMTs or a new BIMT with significant family history of BAP1-TPDS related cancers. If positive for a germline BAP1 mutation, cancer surveillance should be recommended for early diagnosis and timely intervention.

Conclusions

Further workup should be encouraged in patients who meet the proposed screening criteria for germline BAP1 mutations. Patients could benefit from cancer surveillance for earlier diagnosis, management, and improved outcomes.

Keywords:

• BAP1 inactivation
• BAP1-inactivated cutaneous melanocytic tumor
• BRCA1 associated protein 1
• tumor predisposition syndrome

Disclosure statement

Dr. West is a former employee of and is currently a member of the Board of Directors for Genzada Pharmaceuticals. Dr. Paek has been an investigator for AbbVie, Avillion, Bristol-Meyers Squibb, and Novartis, has been on the advisory board for AbbVie, Celgene, Janssen, and Ortho-Dermatologics, and is a speaker for AbbVie and Janssen.