recurrent dnmt3a r882 mutations in chinese patients with acute myeloid leukemia and myelodysplastic syndrome复发性dnmt3a r882突变在中国急性骨髓性白血病和骨髓增生异常综合征患者.pdfVIP
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recurrent dnmt3a r882 mutations in chinese patients with acute myeloid leukemia and myelodysplastic syndrome复发性dnmt3a r882突变在中国急性骨髓性白血病和骨髓增生异常综合征患者
Recurrent DNMT3A R882 Mutations in Chinese Patients
with Acute Myeloid Leukemia and Myelodysplastic
Syndrome
1,2 1 1 1 2 1 1 1
Jiang Lin , Dong-ming Yao , Jun Qian *, Qin Chen , Wei Qian *, Yun Li , Jing Yang , Cui-zhu Wang ,
1 1 2 3
Hai-yan Chai , Zhen Qian , Gao-fei Xiao , Wen-rong Xu
1 Department of Haematology, Affiliated People’s Hospital of Jiangsu University, Zhenjiang, Jiangsu, People’s Republic of China, 2 Laboratory Center, Affiliated People’s
Hospital of Jiangsu University, Zhenjiang, Jiangsu, People’s Republic of China, 3 Key Institute of Clinical Laboratory Science, School of Medical Science and Laboratory
Medicine, Jiangsu University, Zhenjiang, Jiangsu, People’s Republic of China
Abstract
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
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