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Integrative analysis identifies four molecular and clinical subsets in uveal melanoma
TCGA Research Network, & Auman, T. (2017). Integrative analysis identifies four molecular and clinical subsets in uveal melanoma. Cancer Cell, 32(2), 204-+. https://doi.org/10.1016/j.ccell.2017.07.003
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, ElF1AX- and SRSF2/SF3B/-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.
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