Sadudee ChotiratWanna ThongnoppakhunWanchai WanachiwanawinChirayu U. AuewarakulMahidol University2018-11-232018-11-232015-03-01Blood Cells, Molecules, and Diseases. Vol.54, No.3 (2015), 286-29110960961107997962-s2.0-84923838335https://repository.li.mahidol.ac.th/handle/123456789/35492© 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.Mahidol UniversityBiochemistry, Genetics and Molecular BiologyMedicineArticleSCOPUS10.1016/j.bcmd.2014.11.017