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

ABSTRACT: 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?

SUBMITTER: Lu Q

PROVIDER: S-EPMC3605177 | biostudies-literature | 2013 Jan

REPOSITORIES: biostudies-literature

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

Lu Quanyi Q Chen Yamei Y Wang Hang H Li Zhipeng Z

Cancer cell international 20130111 1

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 missen ...[more]

PMID: 23305405

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Project description:ObjectiveAmong all types of hematological neoplasms, acute myeloid leukemia (AML) has the highest death rate. Recently, cytogenetic and molecular genetics are crucial in the management, as a consequence of their effect on AML pathogenesis, classification, risk-stratification, prognosis and treatment.Methods100 Syrian adults with Normal Karyotype (NK) newly diagnosed AML patients were included in this study, all cases confirmed histologically and immunohistochemically. Patients were divided into six subgroups using flow cytometry and cytological results. Polymerase chain reaction (PCR) was performed on exon 11-12 for FMS-like tyrosine kinase-3 internal tandem duplication (FLT3-ITD), exon 12 for Nucleophosmin1 (NPM1), and exon 23 for DNA methyltransferase 3A (DNMT3A) using target primers, the electropherograms were analyzed for gene mutations by comparing with the reference DNA sequence. Data were compared and aligned with different sequences using the NCBI BLAST Assembled Genomes tool.ResultsFLT3-ITD, NPM1 and DNMT3A were detected in 24%, 22 % and 4% patients respectively. M2 subtype had the most frequent incidence of diagnosis in AML. FLT3-ITD mutation patients had the highest mean of death cases, while the DNMT3A mutation patients had the lowest. On the other hand, the highest mean of remission was in patients with NPM1 mutation and the lowest in the carriers of the FLT3-ITD mutation. It was observed that the mean relapsed patients with FLT3-ITD and DNMT3A mutation was 3.4 and 2 months respectively, with no significant differences between (FLT3-ITD and DNMT3A) carriers and non-carriers relapsed. On the contrary, the mean relapsed for NPM1 mutation carriers was 2.4 months with significant statistical differences. The mean survival time for patients with FLT3-ITD and NPM1 mutation was 5.9 months and 5.85 months respectively, with significant correlation. Between it was 5.88 months in DNMT3A patients with no significant differences. Finally, It was noted that the mean event free survival (EFS) of FLT3-ITD mutation patients was 4.818 months and the mean EFS of NPM1 mutation patients was 4.805 months, with significant statistical differences (p<0.05) between the mutation patients and non-mutated patients regarding to EFS, While this mean was not statistically significant in patients carrying DNMT3A mutation.ConclusionPatients with FLT3-ITD and NPM1 mutations have the worst prognosis, where the presence of those mutations was significantly related to overall survival (OS) and EFS. Our study reflects that DNMT3A was not an extremely bad prognostic effect as an independent factor. We can declare according to this study that genetic mutation and variants detection could easily be incorporated into the regimen evaluation of AML patients.

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

Publications

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

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