Integrative Analysis Identifies Four Molecular and Clinical Subsets in Uveal Melanoma

Robertson, A Gordon, Shih, Juliann, Yau, Christina, Gibb, Ewan A, Oba, Junna, Mungall, Karen L, Hess, Julian M, Uzunangelov, Vladislav, Walter, Vonn, Danilova, Ludmila
et al (show 32 more authors) (2017) Integrative Analysis Identifies Four Molecular and Clinical Subsets in Uveal Melanoma. Cancer Cell, 32 (2). pp. 204-220.

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Comprehensive multiplatform analysis of 80 uveal melanomas (UM) identifies four molecularly distinct, clinically relevant subtypes: two associated with poor-prognosis monosomy 3 (M3) and two with better-prognosis disomy 3 (D3). We show that BAP1 loss follows M3 occurrence and correlates with a global DNA methylation state that is distinct from D3-UM. Poor-prognosis M3-UM divide into subsets with divergent genomic aberrations, transcriptional features, and clinical outcomes. We report change-of-function SRSF2 mutations. Within D3-UM, EIF1AX- and SRSF2/SF3B1-mutant tumors have distinct somatic copy number alterations and DNA methylation profiles, providing insight into the biology of these low- versus intermediate-risk clinical mutation subtypes.

Item Type: Article
Uncontrolled Keywords: TCGA Research Network, Humans, Melanoma, Uveal Neoplasms, Monosomy, Ubiquitin Thiolesterase, Tumor Suppressor Proteins, Phosphoproteins, Eukaryotic Initiation Factor-1, Prognosis, DNA Methylation, Gene Expression Regulation, Neoplastic, Mutation, DNA Copy Number Variations, Serine-Arginine Splicing Factors, Biomarkers, Tumor, RNA Splicing Factors
Depositing User: Symplectic Admin
Date Deposited: 17 Aug 2017 06:26
Last Modified: 19 Jan 2023 06:57
DOI: 10.1016/j.ccell.2017.07.003
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