Benign nail disease linked to rare syndrome that significantly increases cancer risk

Press release

Friday May 17, 2024

NIH researchers suggest nail assessment of affected patients and at-risk family members

Scientists from the National Institutes of Health (NIH) have discovered that the presence of a benign nail abnormality can lead to the diagnosis of a rare hereditary disease that increases the risk of developing cancerous tumors of the skin, eyes, kidneys and the fabrics that line them. the chest and abdomen (for example, the mesothelium). This disease, known as BAP1 tumor predisposition syndrome, is caused by mutations in the BAP1 gene, which normally acts as a tumor suppressor, among other functions. The results are published in JAMA Dermatology and will be presented today at the annual meeting of the Society for Investigative Dermatology in Dallas.

The scientists made the discovery while studying participants enrolled in a BAP 1 variant screening at the NIH Clinical Center. As part of the study, dermatology screening was performed at enrollment and annually for participants aged 2 years and older. The current study cohort included 47 individuals with BAP1 tumor predisposition syndrome from 35 families.

“When asked about nail health during a baseline genetic evaluation, one very astute patient reported that he noticed subtle changes in his nails,” said co-senior author and genetic counselor Alexandra Lebensohn, MS. , from the National Cancer Institute (NCI) of the NIH. “Her comment prompted us to systematically evaluate other participants for nail changes and discover this new finding.”

Biopsies of the nail and underlying nail bed in several participants confirmed investigators’ suspicion of a benign tumor abnormality known as onychopapilloma. The disease causes a colored band (usually white or red) along the length of the nail, as well as thickening of the nail underlying the color change and thickening at the tip of the nail. This usually only affects one nail.

However, among study participants with known BAP1 tumor predisposition syndrome aged 30 and older, 88% had onychopapilloma tumors affecting multiple nails. The researchers suggest that nail screening might be particularly useful in a patient with a personal or family history of melanoma or other potential BAP1-associated malignancies.

“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,” said Edward Cowen, MD, chief of dermatology consultation services at NIH’s National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS).

“This discovery is an excellent example of how multidisciplinary teams and natural history studies can reveal information about rare diseases,” said Raffit Hassan, MD, co-senior author of the study and principal investigator of the clinical protocol in which these patients were enrolled. .

The study was supported by the NIAMS (ZIAAR041229) and NCI (ZIABC010816) intramural programs and included collaborations with physicians at Walter Reed National Medical Center and the Joint Pathology Center.

For more information about the study protocol, “Long-term follow-up of mesothelioma patients and their family members with germline mutations in BAP1 and other genes,” please visit ClinicalTrials.gov and search l ‘id NCT03830229.

About the National Institute of Arthritis, Musculoskeletal and Skin Diseases (NIAMS): The mission of NIAMS, part of the National Institutes of Health of the U.S. Department of Health and Human Services, is to support research into the causes, treatment, and prevention of arthritis and musculoskeletal and skin diseases. ; training basic and clinical scientists to carry out this research; and the dissemination of information on progress in research on these diseases. For more information about NIAMS and its programs, visit https://www.niams.nih.gov/.

About the National Cancer Institute (NCI): The NCI leads the National Cancer Program and NIH efforts to significantly reduce the prevalence of cancer and improve the lives of people with cancer. NCI supports a wide range of cancer research and education extramural through grants and contracts. The NCI Intramural Research Program conducts innovative, transdisciplinary basic, translational, clinical, and epidemiologic research into the causes of cancer, avenues for prevention, risk prediction, early detection, and treatment, including research in NIH Clinical Center, the largest research hospital in the world. For more information about cancer, please visit the NCI website at cancer.gov or call the NCI Contact Center at 1-800-4-CANCER (1-800-422-6237).

About the National Institutes of Health (NIH):The NIH, the nation’s medical research agency, is comprised of 27 institutes and centers and is part of the U.S. Department of Health and Human Services. The NIH is the primary federal agency that conducts and supports basic, clinical, and translational medical research, and studies the causes, treatments, and cures for common and rare diseases. For more information about the NIH and its programs, visit www.nih.gov.

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