US researchers have found that a benign nail tumor abnormality called onychopapilloma is linked to a rare syndrome that significantly increases the risk of cancer.
- BAP1 tumor predisposition syndrome increases the risk of suffering from melanoma or other cancers such as kidney or eye cancer.
- Researchers have found that affected people frequently develop a benign nail abnormality called onychopapilloma.
- The team suggests that the presence of nail changes should prompt screening for the mutation.
Monitoring patients’ nails may lead to the diagnosis of a rare hereditary disorder that increases the risk of developing cancerous tumors of the skin, eyes, kidneys and tissues lining the chest and abdomen, according to scientists at the National Institutes of Health (NIH).
The team from US research institutions noted that people with a benign nail tumor abnormality known as onychopapilloma were more likely to suffer from a BAP1-related tumor predisposition syndrome. , a mutation in the BAP1 gene that increases the risk of cancer.
Cancer: a nail disease linked to a genetic mutation
In their article published in JAMA Dermatology and presented on May 17, 2024 at the annual meeting of the Society for Investigative Dermatology in Dallas, the scientists explain that they discovered the link between onychopapilloma and BAP1 tumor predisposition syndrome by studying participants enrolled in a screening for BAP1 mutations .
“When asked about the health of his nails during a basic genetic evaluation, one very astute patient reported noticing subtle changes in his nails”says Alexandra Lebensohn, lead author and genetic counselor at the National Cancer Institute (NCI) of the NIH. “Her comment prompted us to systematically evaluate other volunteers for nail changes.”
Nail biopsies performed on several participants showed that 88% of patients affected by BAP1 syndrome aged 30 and over had onychopapillomas on multiple fingers. However, this type of rare benign tumor which is characterized by a colored band (generally white or red) along the entire length of the nail and a small distal crack overcoming hyperkeratosis, generally affects only one nail.
BAP1 syndrome: nail changes should prompt screening
Given their results, the researchers suggest that it would be interesting to evaluate the nails of patients with a personal or family history of melanoma or other potential cancers associated with tumor predisposition syndrome linked to BAP1 mutation.
“This finding is rarely seen in the general population, and we believe that the presence of nail changes suggestive of onychopapillomas in multiple nails should prompt consideration of a diagnosis of BAP1 tumor predisposition syndrome.”says Dr. Edward Cowen, chief of dermatology consulting services at NIH’s National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), in a communicated.
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