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Advances in Hematology
Volume 2012, Article ID 697691, 8 pages
http://dx.doi.org/10.1155/2012/697691
Research Article

DNMT3A Mutations in Patients with Acute Myeloid Leukemia in South Brazil

1Cellular Therapy Center, Center for Experimental Research, Hospital de Clinicas de Porto Alegre, 90035-903 Porto Alegre, RS, Brazil
2Postgraduate Course of Medical Sciences, Federal University of Rio Grande do Sul, 90035-903 Porto Alegre, RS, Brazil
3Gene Therapy Center, Center for Experimental Research, Hospital de Clinicas de Porto Alegre, 90035-903 Porto Alegre, RS, Brazil
4Pediatric Hematology and Oncology Program, Research Center, Instituto Nacional de Câncer, 20230-130 Rio de Janeiro, RJ, Brazil
5Hematology and Bone Marrow Transplantation, Hospital de Clinicas de Porto Alegre, 90035-903 Porto Alegre, RS, Brazil
6Laboratory of Cell Culture and Molecular Analysis of Hematopoietic Cells, Center for Experimental Research, Hospital de Clínicas de Porto Alegre, 2350 Ramiro Barcelos, 90035-903 Porto Alegre, RS, Brazil

Received 18 July 2012; Revised 1 October 2012; Accepted 1 October 2012

Academic Editor: Helen A. Papadaki

Copyright © 2012 Annelise Pezzi et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Acute myeloid leukemia (AML) is a complex and heterogeneous hematopoietic tissue neoplasm. Several molecular markers have been described that help to classify AML patients into risk groups. DNA methyltransferase 3A (DNMT3A) gene mutations have been recently identified in about 22% of AML patients and associated with poor prognosis as an independent risk factor. Our aims were to determine the frequency of somatic mutations in the gene DNMT3A and major chromosomal translocations in a sample of patients with AML. We investigated in 82 samples of bone marrow from patients with AML for somatic mutations in DNMT3A gene by sequencing and sought major fusion transcripts by RT-PCR. We found mutations in the DNMT3A gene in 6 patients (8%); 3 were type R882H. We found fusion transcripts in 19 patients, namely, AML1/ETO ( ; 6.1%), PML/RARα ( ; 14.6%), MLL/AF9 (0; 0%), and CBFβ/MYH11 ( ; 2.4%). The identification of recurrent mutations in the DNMT3A gene and their possible prognostic implications can be a valuable tool for making treatment decisions. This is the first study on the presence of somatic mutations of the DNMT3A gene in patients with AML in Brazil. The frequency of these mutations suggests a possible ethnogeographic variation.