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

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.

journal_name

Ann Hematol

journal_title

Annals of hematology

authors

Lin J,Yao DM,Qian J,Chen Q,Qian W,Li Y,Yang J,Wang CZ,Chai HY,Qian Z,Xiao GF,Xu WR

doi

10.1007/s00277-011-1352-7

subject

Has Abstract

pub_date

2012-04-01 00:00:00

pages

519-25

issue

4

eissn

0939-5555

issn

1432-0584

journal_volume

91

pub_type

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