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Open Journal of Hematology

ISSN: 2075-907X
Volume 8, 2017

Indexed in:

Open Journal of Hematology, 2015, 6-3 [Research Article]

Molecular genetics and Cytogenetics data of 317 patients with de novo acute leukemia

Catharina Brant Campos1, Carolina Pereira de Souza Melo1, Siliana Maria Duarte1, Joaquim Caetano Aguirre Neto2, Álvaro Pimenta Dutra2, Ângelo Atalla3, Mara Albonei Dudeque Pianovski4, Edna Kakitani Carbone5, Luciana Barros Quintão Lares6, Hélio Moraes-Souza7, Shirlei Octacílio-Silva8, Alessandro Clayton de Souza Ferreira1,9, Juliana Godoy Assumpção1,9,*

1 BIOCOD Biotecnologia Ltda. Av das Nações 2448, Distrito Industrial, Vespasiano - MG, Brasil
2 Hospital Santa Casa de Misericórdia de Belo Horizonte. Av. Francisco Sales  1111, Belo Horizonte - MG, Brasil
3 Hospital Universitário da Universidade Federal de Juiz de Fora. Rua Catulo Breviglieri s/nº., Juiz de Fora – MG, Brasil
4 Hospital Erasto Gaertner. R. Dr. Ovande do Amaral 201, Curitiba - PR, Brasil
5 Hospital Pequeno Príncipe. Rua Desembargador Motta 1070, Curitiba - PR, Brasil
6 Hospital São João de Deus. Rua do Cobre 800, Divinópolis – MG, Brasil
7 Hospital de Clínicas da Universidade Federal do Triângulo Mineiro. Rua Frei Paulino 30, Uberaba - MG, Brasil
8 Departamento de Morfologia da Universidade Federal de Sergipe. Av. Marechal Rondon  s/n , Aracajú – SE, Brasil
9 Setor de Pesquisa e Desenvolvimento - Instituto Hermes Pardini. Av das Nações 2448, Distrito Industrial, Vespasiano - MG, Brasil

Corresponding Author & Address:

Juliana Godoy Assumpção*
Setor de Genética Molecular, Av das Nações 2448, Portaria A – Distrito Industrial, Vespasiano – MG. CEP 33200-000, Brasil; Phone: 55- 31-36294821; Email: julianaassumpcao@yahoo.com.br

Article History:
Published: 4th May, 2015   Accepted: 4th May, 2015
Received: 19th February, 2015      

© Assumpção et al.; licensee Ross Science Publishers

ROSS Open Access articles will be distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided that the original work will always be cited properly.


Background/Aims: Cytogenetic and molecular genetics play a pivotal role in treatment of acute leukemias. We prospectively evaluated genetic alterations in Brazilian patients with acute myeloid leukemia (AML) or acute lymphoblastic leukemia (ALL) and their association with clinical and laboratorial data.

Methods: Flow cytometry, conventional cytogenetics (CC), FISH, PCR, RT-PCR and sequencing were performed on samples from 161 de novo ALL and 155 AML.

Results: Main CC findings in AML were t(15;17) (19.4%), +8 (17.4%), complex karyotype (14.6%), t(8;21) (7.6%); in ALL main CC findings were high hyperdiploidy (18.7%), low hyperdiploidy (9.7%), t(1;19) (9.7%), t(9;22) (8.2%). Frequencies of gene fusions and mutations in AML were PML-RARa 21.9%, RUNX1-RUNX1T1 7.1%, CBFB-MYH11 and MLL-AF9 2.6%, FLT3-ITD 14.2%, NPM1mut 13.6%. In ALL, ETV6-RUNX1 and BCR-ABL were present in 11.5% of the cases, TCF3-PBX1 in 10.8% and MLL-AF1 in 1.5%. Results were discordant between CC and RT-PCR in 3.6% of the cases. PML-RARa was associated with younger age, lower WBC and platelet; FLT3-ITD with higher hemoglobin and WBC; NPM1mut with higher platelet and WBC, older age and normal karyotype. BCR-ABL was associated with higher age; MLL-AF1 with higher WBC and EGIL BI-subtype.

Conclusions: The incidence of some aberrations in AML differed from international literature. Discrepancies found between methodologies reinforce the importance of both CC and PCR in the diagnosis of leukemias.

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