Nail findings can indicate risk of melanoma cancer syndrome

Description

People with a rare inherited disorder known as BRCA1-associated protein tumor predisposition syndrome (BAP1 TPDS) are at increased risk of developing cancerous tumors of the skin (e.g., melanoma and basal cell carcinoma), eye, kidney, and mesothelium (the tissue that lines the chest and abdomen). The syndrome is caused by mutations in the BAP1 gene, which normally acts as a tumor suppressor, among other functions.

Scientists at NIAMS and the National Cancer Institute have identified a new clue to the diagnosis of BAP1 TPDS through a study at the NIH Clinical Center in Bethesda, Maryland. Individuals with known mutations in the BAP1gene were enrolled in the study and evaluated for nail abnormalities. Among study participants ages 30 and older, 88 percent had onychopapilloma tumors affecting multiple nails, which is rarely seen in the general population.

What is exciting about this article?

Nail screening may be particularly valuable in people with a personal or family history of melanoma or other potential BAP1-associated malignancy. Nail changes that suggest onychopapillomas on multiple nails should prompt consideration of a BAP1 TPDS diagnosis. Early detection of BAP1 TPDS is important because it enables cancer surveillance and genetic counseling of at-risk family members.

Grant support

ZIA AR041229