Multiple Onychopapillomas and BAP1 Tumor Predisposition Syndrome.

Area of Science:

• Oncology
• Dermatology
• Genetics

Background:

• BRCA1-associated protein (BAP1) tumor predisposition syndrome (TPDS) is a rare genetic disorder.
• It significantly increases the risk of various cancers, including melanoma and mesothelioma.
• Early identification is crucial for cancer surveillance and genetic counseling.

Purpose of the Study:

• To investigate the prevalence and characteristics of nail abnormalities in individuals with pathogenic germline variants in the BAP1 gene.
• To assess if nail findings can serve as an early indicator for BAP1 TPDS.

Main Methods:

• A prospective cohort study enrolled 47 individuals with known pathogenic BAP1 germline variants.
• Dermatologic evaluations included history, physical examination, photography, and nail biopsies.
• Histopathology confirmed nail changes, focusing on onychopapilloma.

Main Results:

• Nail abnormalities were present in 87.2% of participants.
• Common findings included leukonychia, splinter hemorrhage, onychoschizia, and distal nail hyperkeratosis.
• Onychopapilloma-like changes were observed in 83.0% of patients, often affecting multiple nails.

Conclusions:

• BAP1 TPDS is frequently associated with nail abnormalities, especially onychopapillomas.
• These nail findings may serve as a novel cutaneous sign for early detection of BAP1 TPDS.
• Identifying these signs can help at-risk family members and patients with BAP1-associated cancers.