Acute Myeloid Leukemia With IDH1 or IDH2 Mutation
Open Access
- 1 January 2011
- journal article
- research article
- Published by Oxford University Press (OUP) in American Journal of Clinical Pathology
- Vol. 135 (1), 35-45
- https://doi.org/10.1309/ajcpd7nr2rmnqdvf
Abstract
Mutations in the isocitrate dehydrogenase 1 (IDH1) and IDH2 genes are reported in acute myeloid leukemia (AML). We studied the frequency and the clinicopathologic features of IDH1 and IDH2 mutations in AML. Mutations in IDH1 (IDH1R132) and IDH2 (IDH2R172) were assessed by Sanger sequencing in 199 AML cases. Point mutations in IDH1R132 were detected in 12 (6.0%) of 199 cases and in IDH2R172 in 4 (2.0%) of 196 cases. Of the 16 mutated cases, 15 (94%) were cytogenetically normal, for an overall frequency in this group of 11.8%. IDH1R132 and IDH2R172 mutations were mutually exclusive. Concurrent mutations in NPM1, FLT3, CEBPA, and NRAS were detected only in AML with the IDH1R132 mutation. The clinical and laboratory variables of patients with AML with IDH mutations showed no significant differences compared with patients with wild-type IDH. We conclude that IDH1R132 and IDH2R172 mutations occur most often in cytogenetically normal AML cases with an overall frequency of approximately 11.8%.Keywords
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