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DNMT3A mutations and clinical features in Chinese patients with acute myeloid leukemia

Quanyi Lu1*, Yamei Chen1, Hang Wang2 and Zhipeng Li1

Author Affiliations

1 Department of Haematology, Zhongshan Hospital of Xiamen University, Xiamen, Fujian, 361004, China

2 Department of Biomedical Sciences and the Key Laboratory of the Ministry of Education for Cell Biology and Tumor Cell Engineering, School of Life Sciences, Xiamen University, Xiamen, Fujian, China

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Cancer Cell International 2013, 13:1  doi:10.1186/1475-2867-13-1

Published: 11 January 2013


Mutations in DNA methyltransferase 3A (DNMT3A) gene were recently demonstrated in acute myeloid leukemia(AML). Approximately 20% patients with AML carry DNMT3A gene mutations and was associated with a poor clinical outcome. but its clinical implications in Chinese AML patients are largely unknown. We analyzed 101 adult AML patients in china and found 14 patients (13.9%) harboring this mutation. 9 patient with M5, 2 patients with M1, 2patient with M2 and 1 patient with M3. We identified 11 missense mutation,2 nonsense and 30 bp deletion encompassing DNMT3A. The most common of them was predicted to affect 882Arg(in 4 patients). Double mutations were detected in two cases.10 of 33(43.5%). DNMT3A mutations occurred more frequently in older (age > 50y,p < 0.05) and the outcome is too badly for these patients. We concluded that DNMT3A mutations are highly recurrent in AML and is associated with distinct clinical and biologic characteristics and seems to be a useful as a prognostic marker.

DNMT3A; Acute myeloid leukemia; Gene mutations