BAP1 tumor predisposition syndrome (BAP1-TPDS) is a rare autosomal dominant disorder characterized by germline loss-of-function mutations in the BAP1 tumor suppressor gene, and patients with BAP1-TPDS are at an increased… Click to show full abstract
BAP1 tumor predisposition syndrome (BAP1-TPDS) is a rare autosomal dominant disorder characterized by germline loss-of-function mutations in the BAP1 tumor suppressor gene, and patients with BAP1-TPDS are at an increased risk of developing various tumors, including melanoma. we report a case of melanoma on the scalp in a patient with BAP1-TPDS. Based on BAP1 expression pattern and cell morphology, we identified four distinct melanocytic populations within the lesion. We believe these findings provide us with important clues to understand the developmental mechanism of melanoma arising from nevi following a BAP1 mutation.
Journal Title: Clinical and experimental dermatology
Year Published: 2025
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