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• W1979521298 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 (IDH1(R)¹³²) and IDH2 (IDH2(R)¹⁷²) were assessed by Sanger sequencing in 199 AML cases. Point mutations in IDH1(R)¹³² were detected in 12 (6.0%) of 199 cases and in IDH2(R)¹⁷² 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%. IDH1(R)¹³² and IDH2(R)¹⁷² mutations were mutually exclusive. Concurrent mutations in NPM1, FLT3, CEBPA, and NRAS were detected only in AML with the IDH1(R)¹³² 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 IDH1(R)¹³² and IDH2(R)¹⁷² mutations occur most often in cytogenetically normal AML cases with an overall frequency of approximately 11.8%." @default.
• W1979521298 created "2016-06-24" @default.
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• W1979521298 date "2011-01-01" @default.
• W1979521298 modified "2023-10-01" @default.
• W1979521298 title "Acute Myeloid Leukemia With <i>IDH1</i> or <i>IDH2</i> Mutation" @default.
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• W1979521298 doi "https://doi.org/10.1309/ajcpd7nr2rmnqdvf" @default.
• W1979521298 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/5465954" @default.
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