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[Isocitrate dehydrogenase gene mutations in acute myeloid leukemia].

Abstract
The purpose of this study was to identify point mutation of the isocitrate dehydrogenase gene (IDH1 and IDH2) in patients with acute myeloid leukemia(AML) and its clinical significance. 90 de novo AML patients were selected for this study, the genomic DNA was served as template, the exon4 of IDH1 and IDH2 were amplified respectively. The IDH mutation was detected by using directly sequencing method for PCR product. The results indicated that among 90 de novo AML patients, 4 patients (4.4%) showed the IDH1 gene mutation positive, and 7(7.8%) patients showed IDH2 gene mutation positive. None was found harboring both mutations, the overall rate of mutation positive of them was 12.2%. In the AML patients with IDH gene mutation positive, the rate of normal karyotype was 72.7%, which was significantly higher than that in abnormality karyotype. The CR rate in mutation positive patients was 72.7%, which seemed as if higher than that in mutation negative patients, but without statistical significance. The mutation disappeared when the patients gained CR, and reappeared in same loci after relapse occurred. It is concluded that the IDH gene point mutation appears in normal karyotype patients, especially in patients combined with NPM1 gene mutation. The IDH gene mutation may be an important target for therapy and evaluating clinical prognosis of patients with normal karyotype.
AuthorsXiao-Juan Zhou, Su-Jiang Zhang, Chun Qiao, Yun-Feng Shen, Jian-Yong Li
JournalZhongguo shi yan xue ye xue za zhi (Zhongguo Shi Yan Xue Ye Xue Za Zhi) Vol. 19 Issue 4 Pg. 902-6 (Aug 2011) ISSN: 1009-2137 [Print] China
PMID21867611 (Publication Type: Journal Article, Research Support, U.S. Gov't, Non-P.H.S.)
Chemical References
  • NPM1 protein, human
  • Nucleophosmin
  • IDH2 protein, human
  • Isocitrate Dehydrogenase
  • IDH1 protein, human
Topics
  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Child
  • Female
  • Humans
  • Isocitrate Dehydrogenase (genetics)
  • Leukemia, Myeloid, Acute (genetics)
  • Male
  • Middle Aged
  • Mutation
  • Nucleophosmin
  • Prognosis
  • Young Adult

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