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Genomic Profiling of Metastatic Uveal Melanoma Shows Frequent Coexisting BAP1 or SF3B1 and GNAQ/GNA11 Mutations and Correlation With Prognosis.

American journal of clinical pathology - 4 Aug 2022

Isaacson Alexandra L, Sompallae Ramakrishna R, Guseva Natalya V, Bellizzi Andrew M, Bossler Aaron D, Ma Deqin

Abstract excerpt

OBJECTIVES: To identify therapeutic targets and correlate with clinical outcomes from mutation profiling of metastatic uveal melanoma (UM) using next-generation sequencing (NGS). METHODS: Melanoma cases that were tested using DNA-based NGS panels of 25 and/or 214 genes were evaluated retrospectively (263 cases) and identified 27 UM cases. BAP1 expression was examined by immunohistochemistry. RESULTS: Mutations in...

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PMID: 35212356
DOI: 10.1093/ajcp/aqac019

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