中文摘要：

DNA methyl-transferase 3A(DNMT3A) mutation has recently been identified as an independent risk factor for patients with acute myeloid leukemia(AML). However, reports are scanty on its rate and subsequent impact on patients with acute lymphoblastic leukemia(ALL), especially in Chinese population. In this study, we investigated the incidence and prognostic implication of DNMT3 A mutation in 57 Chinese adult ALL patients. A total of 3(5.3%) T-ALL cases were found to have the DNMT3 A R882H mutation, which was significantly greater than that found in B-ALL subtype(P=0.048). The patients aged between 40 and 60 years old had higher mutation rate than other age groups(P=0.042). Patients with DNMT3 A mutation had shorter overall survival(OS) than their wild-type counterparts. Our study demonstrated that Chinese ALL patients might develop DNMT3 A mutation, which exerts a negative impact on their prognosis. These findings might help in risk stratification and treatment choice for Chinese ALL patients.

英文摘要：

DNA methyl-transferase 3A（DNMT3A） mutation has recently been identified as an independent risk factor for patients with acute myeloid leukemia（AML）. However, reports are scanty on its rate and subsequent impact on patients with acute lymphoblastic leukemia（ALL）, especially in Chinese population. In this study, we investigated the incidence and prognostic implication of DNMT3 A mutation in 57 Chinese adult ALL patients. A total of 3（5.3%） T-ALL cases were found to have the DNMT3 A R882H mutation, which was significantly greater than that found in B-ALL subtype（P=0.048）. The patients aged between 40 and 60 years old had higher mutation rate than other age groups（P=0.042）. Patients with DNMT3 A mutation had shorter overall survival（OS） than their wild-type counterparts. Our study demonstrated that Chinese ALL patients might develop DNMT3 A mutation, which exerts a negative impact on their prognosis. These findings might help in risk stratification and treatment choice for Chinese ALL patients.