Multiple Onychopapillomas and BAP1 Tumor Predisposition Syndrome

作者：Alexandra Lebensohn, Azam Ghafoor, Luke Bloomquist, Michael C. Royer, Leslie Castelo‐Soccio, Kelli A. Karacki, Olanda Hathaway, Tenin Maglo, Cathy Wagner, Maria Agra, Andrew M. Blakely, David S. Schrump, Raffit Hassan, Edward W. Cowen · 发表于：JAMA Dermatology · 年份：2024 · DOI：10.1001/jamadermatol.2024.1804 · 被引用次数：17 · 研究领域：Nail Diseases and Treatments、Skin Diseases and Diabetes、Cancer and Skin Lesions

Importance: BRCA1-associated protein (BAP1) tumor predisposition syndrome (TPDS) is a cancer genodermatosis associated with high risk of uveal and cutaneous melanoma, basal cell carcinoma, and multiple internal malignant neoplasms, including mesothelioma and renal cell carcinoma. Early detection of the syndrome is important for cancer surveillance and genetic counseling of family members who are at risk. Objective: To determine the prevalence of nail abnormalities in individuals with pathogenic germline variants in BAP1. Design, Setting, and Participants: In this prospective cohort study, individuals who were known carriers of pathogenic BAP1 germline variants were consecutively enrolled between October 10, 2023, and March 15, 2024. Dermatologic evaluation for nail abnormalities was performed, including a history of nail abnormalities and associated symptoms, physical examination, medical photography, and nail biopsy for histopathology. This was a single-center study conducted at the National Institutes of Health Clinical Center. Main Outcomes and Measures: Primary outcomes were the prevalence and spectrum of nail changes and histopathologic characterization. Results: Among 47 participants (30 female [63.8%]; mean [SD] age, 46.4 [15.1] years) ranging in age from 13 to 72 years from 35 families, nail abnormalities were detected in 41 patients (87.2%) and included leukonychia, splinter hemorrhage, onychoschizia, and distal nail hyperkeratosis. Clinical findings consistent with ...