Recurrent DNMT3A R882 mutations in Chinese patients with acute myeloid leukemia and myelodysplastic syndrome.
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 wer...
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Public Library of Science (PLoS)
2011-01-01
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Online Access: | http://europepmc.org/articles/PMC3204995?pdf=render |
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author | 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 |
author_facet | 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 |
author_sort | Jiang Lin |
collection | DOAJ |
description | 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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spelling | doaj.art-f12f9a8a52b34cc48b675434abdd9d9c2022-12-22T03:54:53ZengPublic Library of Science (PLoS)PLoS ONE1932-62032011-01-01610e2690610.1371/journal.pone.0026906Recurrent DNMT3A R882 mutations in Chinese patients with acute myeloid leukemia and myelodysplastic syndrome.Jiang LinDong-ming YaoJun QianQin ChenWei QianYun LiJing YangCui-zhu WangHai-yan ChaiZhen QianGao-fei XiaoWen-rong XuSomatic 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.http://europepmc.org/articles/PMC3204995?pdf=render |
spellingShingle | 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 Recurrent DNMT3A R882 mutations in Chinese patients with acute myeloid leukemia and myelodysplastic syndrome. PLoS ONE |
title | Recurrent DNMT3A R882 mutations in Chinese patients with acute myeloid leukemia and myelodysplastic syndrome. |
title_full | Recurrent DNMT3A R882 mutations in Chinese patients with acute myeloid leukemia and myelodysplastic syndrome. |
title_fullStr | Recurrent DNMT3A R882 mutations in Chinese patients with acute myeloid leukemia and myelodysplastic syndrome. |
title_full_unstemmed | Recurrent DNMT3A R882 mutations in Chinese patients with acute myeloid leukemia and myelodysplastic syndrome. |
title_short | Recurrent DNMT3A R882 mutations in Chinese patients with acute myeloid leukemia and myelodysplastic syndrome. |
title_sort | recurrent dnmt3a r882 mutations in chinese patients with acute myeloid leukemia and myelodysplastic syndrome |
url | http://europepmc.org/articles/PMC3204995?pdf=render |
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