Fatal melanoma with a novel MYO5A-BRAF fusion and small associated conventional nevus: A Case Report and Review of Literature.

Publication date: May 21, 2022

Kinase fusions play an important role in the pathogenesis of Spitz neoplasms and occasionally non-Spitz neoplasms. We report a case of a 19-year-old woman with a growing nodule on the scalp, morphologically consistent with melanoma with epithelioid features arising in association with small nevus. This tumor aggressively metastasized and failed to respond to immunotherapy. Next-generation sequencing of a metastatic focus revealed a MYO5A-BRAF kinase fusion with a low mutational burden and fluorescence in situ hybridization of the primary melanoma showed similar results. FISH testing of the associated nevus failed due to technical reasons. MYO5A has rarely been reported as the fusion partner with BRAF-rearranged melanocytic tumors. Moreover, this case raises speculations and contributes to the growing literature on the pathogenesis, nomenclature and tumorigenic pathways in kinase-fusion melanomas. The patient succumbed to disease, which is in concordance with some literature suggesting aggressive behavior of BRAF fusion melanomas with TERT promoter mutations. This article is protected by copyright. All rights reserved.

Concepts Keywords


Type Source Name
disease MESH neoplasms
disease MESH nevus
pathway KEGG Melanoma
disease MESH melanoma

Original Article

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