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Recurrent DNMT3A R882 mutations in Chinese patients with acute myeloid leukemia and myelodysplastic syndrome.

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 
Citation: Lin J, etal., PLoS One. 2011;6(10):e26906. doi: 10.1371/journal.pone.0026906. Epub 2011 Oct 31.
Pubmed: (View Article at PubMed) PMID:22066015
DOI: Full-text: DOI:10.1371/journal.pone.0026906

Somatic mutations of DNMT3A gene have recently been reported in acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS). We examined the entire coding sequences of DNMT3A gene by high-resolution melting analysis and sequencing in Chinese patients with myeloid malignancies. R882 mutations were found in 12/182 AML and in 4/51 MDS, but not in either 79 chronic myeloid leukemia (CML), or 57 myeloproliferative neoplasms (MPNs), or 4 chronic monomyelocytic leukemia. No other DNMT3A mutations were detected in all patients. R882 mutations were associated with old age and more frequently present in monoblastic leukemia (M4 and M5, 7/52) compared to other subtypes (5/130). Furthermore, 14/16 (86.6%) R882 mutations were observed in patients with normal karyotypes. The overall survival of mutated MDS patients was shorter than those without mutation (median 9 and 25 months, respectively). We conclude that DNMT3A R882 mutations are recurrent molecular aberrations in AML and MDS, and may be an adverse prognostic event in MDS.

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CRRD Object Information
CRRD ID: 11041124
Created: 2016-03-22
Species: All species
Last Modified: 2016-03-22
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.