Integrative analysis identifies four molecular and clinical subsets in uveal melanoma Journal Article
| Authors: | Robertson, A. G.; Shih, J.; Yau, C.; Gibb, E. A.; Oba, J.; Mungall, K. L.; Hess, J. M.; Uzunangelov, V.; Walter, V.; Danilova, L.; Lichtenberg, T. M.; Kucherlapati, M.; Kimes, P. K.; Tang, M.; Penson, A.; Babur, O.; Akbani, R.; Bristow, C. A.; Hoadley, K. A.; Iype, L.; Chang, M. T.; TCGA Research Network; Cherniack, A. D.; Benz, C.; Mills, G. B.; Verhaak, R. G. W.; Griewank, K. G.; Felau, I.; Zenklusen, J. C.; Gershenwald, J. E.; Schoenfield, L.; Lazar, A. J.; Abdel-Rahman, M. H.; Roman-Roman, S.; Stern, M. H.; Cebulla, C. M.; Williams, M. D.; Jager, M. J.; Coupland, S. E.; Esmaeli, B.; Kandoth, C.; Woodman, S. E. |
| Article Title: | Integrative analysis identifies four molecular and clinical subsets in uveal melanoma |
| Abstract: | 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. © 2017 The Authors |
| Keywords: | gna11; gnaq; uveal melanoma; noncoding rna; molecular subtypes; tcga; monosomy 3; sf3b1; srsf2; eif1ax |
| Journal Title: | Cancer Cell |
| Volume: | 32 |
| Issue: | 2 |
| ISSN: | 1535-6108 |
| Publisher: | Cell Press |
| Date Published: | 2017-08-14 |
| Start Page: | 204 |
| End Page: | 220.e15 |
| Language: | English |
| DOI: | 10.1016/j.ccell.2017.07.003 |
| PROVIDER: | scopus |
| PUBMED: | 28810145 |
| PMCID: | PMC5619925 |
| DOI/URL: | |
| Notes: | Article -- Export Date: 5 September 2017 -- Source: Scopus |
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