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Title: Acquired somatic mutations of isocitrate dehydrogenases 1 and 2 (IDH1 and IDH2) in preleukemic disorders
Authors: Sadudee Chotirat
Wanna Thongnoppakhun
Wanchai Wanachiwanawin
Chirayu U. Auewarakul
Mahidol University
Keywords: Biochemistry, Genetics and Molecular Biology;Medicine
Issue Date: 1-Mar-2015
Citation: Blood Cells, Molecules, and Diseases. Vol.54, No.3 (2015), 286-291
Abstract: © 2014 Elsevier Inc. Mutations of isocitrate dehydrogenase isoform 1 and 2 (. IDH1 and IDH2) genes have been identified in glioblastoma and acute myeloid leukemia (AML). However, little is known about the molecular alterations of IDH genes in preleukemic disorders with a propensity to transform to AML. We performed polymerase chain reaction-denaturing high performance liquid chromatography (PCR-DHPLC) followed by direct sequencing to detect IDH mutations in 237 patients with myeloproliferative neoplasms (MPNs; n. =. 108), myelodysplastic syndrome (MDS; n. =. 22), paroxysmal nocturnal hemoglobinuria (PNH; n. =. 41), and aplastic anemia (AA; n. =. 66). No IDH1 R132 and IDH2 R172 mutations were identified in the entire cohort, whereas IDH1 G105G allele was detected in 4/108 MPN (3.70%), 2/22 MDS (9.09%), and 2/41 PNH (4.88%) patients. Three IDH2 R140Q mutations were found in 2/108 MPN (1.85%) and 1/22 MDS (4.54%) patients, while one IDH2 G145G allele was found in 0.92% (1/108) of MPN patients. Overall, our data suggest that IDH mutations are rare in the preleukemic disorders and may not be the major initial step in AML leukemogenesis.
ISSN: 10960961
Appears in Collections:Scopus 2011-2015

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