Article
Clonal expansion and epigenetic reprogramming following deletion or amplification of mutant IDH1.
Proceedings of the National Academy of Sciences of the United States of America - 3 Oct 2017
Mazor Tali, Chesnelong Charles, Pankov Aleksandr, Jalbert Llewellyn E, Hong Chibo, Hayes Josie, Smirnov Ivan V, Marshall Roxanne, Souza Camila F, Shen Yaoqing, Viswanath Pavithra, Noushmehr Houtan, Ronen Sabrina M, Jones Steven J M, Marra Marco A, Cairncross J Gregory, Perry Arie, Nelson Sarah J, Chang Susan M, Bollen Andrew W, Molinaro Annette M, Bengtsson Henrik, Olshen Adam B, Weiss Samuel, Phillips Joanna J, Luchman H Artee, Costello Joseph F
Abstract excerpt
IDH1 mutation is the earliest genetic alteration in low-grade gliomas (LGGs), but its role in tumor recurrence is unclear. Mutant IDH1 drives overproduction of the oncometabolite d-2-hydroxyglutarate (2HG) and a CpG island (CGI) hypermethylation phenotype (G-CIMP). To investigate the role of mutant IDH1 at recurrence, we performed a longitudinal analysis of 50 IDH1 mutant LGGs. We discovered six cases with copy...
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