Annals of Hematology

, Volume 91, Issue 4, pp 519–525

IDH1 and IDH2 mutation analysis in Chinese patients with acute myeloid leukemia and myelodysplastic syndrome

  • Jiang Lin
  • Dong-ming Yao
  • Jun Qian
  • Qin Chen
  • Wei Qian
  • Yun Li
  • Jing Yang
  • Cui-zhu Wang
  • Hai-yan Chai
  • Zhen Qian
  • Gao-fei Xiao
  • Wen-rong Xu
Original Article

DOI: 10.1007/s00277-011-1352-7

Cite this article as:
Lin, J., Yao, D., Qian, J. et al. Ann Hematol (2012) 91: 519. doi:10.1007/s00277-011-1352-7

Abstract

The somatic mutations of isocitrate dehydrogenase genes (IDH1 and IDH2) have been identified in a proportion of hematologic malignancies. We examined IDH1 R132 and IDH2 R140/R172 mutations by high resolution melting analysis and direct sequencing in Chinese patients with different myeloid malignancies including 198 acute myeloid leukemia (AML), 82 myelodysplastic syndrome (MDS), 85 chronic myeloid leukemia, and 57 myeloproliferative neoplasms. IDH1 and IDH2 mutations were found in four (2.0%) and ten (5.0%) AML and in two (2.4%) and three (3.6%) MDS cases, but not in other patients. IDH1 and IDH2 mutations were heterozygous and mutually exclusive. IDH1/2 mutations were significantly more frequently observed in cytogenetically normal AML or MDS compared to those without mutations. There was no difference in overall survival of both AML and MDS patients with or without IDH1/2 mutations (P = 0.177 and 0.407, respectively). In conclusion, IDH1/2 mutations are recurrent but rare molecular aberrations in Chinese AML and MDS.

Keywords

IDH1 IDH2 Mutation Acute myeloid leukemia Myelodysplastic syndrome 

Copyright information

© Springer-Verlag 2011

Authors and Affiliations

  • Jiang Lin
    • 2
  • Dong-ming Yao
    • 2
  • Jun Qian
    • 1
  • Qin Chen
    • 1
  • Wei Qian
    • 2
  • Yun Li
    • 1
  • Jing Yang
    • 1
  • Cui-zhu Wang
    • 1
  • Hai-yan Chai
    • 1
  • Zhen Qian
    • 1
  • Gao-fei Xiao
    • 2
  • Wen-rong Xu
    • 3
  1. 1.Department of HematologyAffiliated People’s Hospital of Jiangsu UniversityZhenjiangPeople’s Republic of China
  2. 2.Laboratory CenterAffiliated People’s Hospital of Jiangsu UniversityZhenjiangPeople’s Republic of China
  3. 3.Key Institute of Clinical Laboratory Science, School of Medical Science and Laboratory MedicineJiangsu UniversityZhenjiangPeople’s Republic of China

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