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01.04.2012 | Original Article

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

verfasst von: 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

Erschienen in: Annals of Hematology | Ausgabe 4/2012

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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.

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Titel: IDH1 and IDH2 mutation analysis in Chinese patients with acute myeloid leukemia and myelodysplastic syndrome
verfasst von: 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
Publikationsdatum: 01.04.2012
Verlag: Springer-Verlag
Erschienen in: Annals of Hematology / Ausgabe 4/2012
Print ISSN: 0939-5555
Elektronische ISSN: 1432-0584
DOI: https://doi.org/10.1007/s00277-011-1352-7

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