[PDF][PDF] Integrative analysis identifies four molecular and clinical subsets in uveal melanoma

AG Robertson, J Shih, C Yau, EA Gibb, J Oba… - Cancer cell, 2017 - cell.com
AG Robertson, J Shih, C Yau, EA Gibb, J Oba, KL Mungall, JM Hess, V Uzunangelov…
Cancer cell, 2017cell.com
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 …
Summary
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.
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