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BAP1 mutations may be associated with melanocytic tumors

Germline mutations in the BAP1 gene may be associated with melanocytic BAP1–mutated atypical intradermal tumors, according to recent findings.

The researchers suggest there is evidence that these tumors develop early, which highlights the need for dermatologists to be proactive in screening patients for history of this mutation. In the analysis, they gathered next-generation sequencing data from saliva or blood samples from 10 patients accrued at an outpatient clinic and 205 patients identified from a PubMed literature review. The aim was to describe eight new families with these mutations by assessing relationships between genotype and phenotype.

Clinical examination revealed melanocytic BAP1–mutated atypical intradermal tumors in nine of the 10 patients accrued in the outpatient setting.

Among 53 patients from the PubMed review who underwent total-body skin examinations, 75% had melanocytic BAP1–mutated atypical intradermal tumors, according to the results. Based on these findings, the researchers suggest “high penetrance” in patients undergoing this type of examination.

Uveal melanoma was the most commonly reported malignancy among BAP1 mutation carriers, at 28%. Mesothelioma was reported in 22% of BAP1 mutation carriers, while 18% had cutaneous melanoma, and 9% had renal cell carcinoma.

Overall, 71 unique BAP1 mutations were described.

“Our results indicate that germline mutations in both coding and noncoding regions throughout the BAP1 gene can impair protein function, leading to an increased risk for several associated malignancies,” the researchers concluded. “Four of the 8 probands we present had no history of BAP1-associated malignancies and were assessed for germline mutations when found to have [melanocytic BAP1–mutated atypical intradermal tumors] on dermatologic examination.”

They added that a careful review of a patient’s personal history, along with a total body skin examination, may allow earlier detection of melanocytic BAP1–mutated atypical intradermal tumors. – by Rob Volansky

Disclosures: The authors report associations with Castle Biosciences, DermTech Int, Epiphany Dermatology, and Myriad Genomics.