Identifying the similarities and differences between single nucleotide polymorphism array (SNPa) analysis and karyotyping in acute myeloid leukemia and myelodysplastic syndromes

Autor(es)

Thiago Rodrigo de Noronha ^[1] ; Sandra Serson Rohr ^[2] ; Maria de Lourdes Lopes Ferrari Chauffaille

Afiliação do(s) autor(es)

^[1] Universidade Federal de São Paulo - Brasil

^[2] Universidade Federal de São Paulo - Brasil

• Tipo de documento: Artigo Científico
• Fonte: Revista Brasileira de Hematologia e Hemoterapia; v. 37, n. 1, p. 48-54, 2015-02-00.

Resumo

Objective: To standardize the single nucleotide polymorphism array (SNPa) method in acute myeloid leukemia/myelodysplastic syndromes, and to identify the similarities and differ- ences between the results of this method and karyotyping. Methods: Twenty-two patients diagnosed with acute myeloid leukemia and three with myelodysplastic syndromes were studied. The G-banding karyotyping and single nucleotide polymorphism array analysis (CytoScan(r) HD) were performed using cells from bone marrow, DNA extracted from mononuclear cells from bone marrow and buccal cells (BC). Results: The mean age of the patients studied was 54 years old, and the median age was 55 years (range: 28-93). Twelve (48%) were male and 13 (52%) female. Ten patients showed abnormal karyotypes (40.0%), 11 normal (44.0%) and four had no mitosis (16.0%). Regarding the results of bone marrow single nucleotide polymorphism array analysis: 17 were abnor- mal (68.0%) and eight were normal (32.0%). Comparing the two methods, karyotyping identified a total of 17 alterations (8 deletions/losses, 7 trissomies/gains, and 2 translocations) and single nucleotide polymorphism array analysis identified a total of 42 alterations (17 losses, 16 gains and 9 copy-neutral loss of heterozygosity). Conclusion: It is possible to standardize single nucleotide polymorphism array analysis in acute myeloid leukemia/myelodysplastic syndromes and compare the results with the abnormalities detected by karyotyping. Single nucleotide polymorphism array analysis increased the detection rate of abnormalities compared to karyotyping and also identified a new set of abnormalities that deserve further investigation in future studies. (AU)

• Processo FAPESP: 11/51751-0 - Avaliação da frequência das alterações citogenéticas e genético moleculares em LMA ao diagnóstico e sequencialmente na remissão
• Beneficiário: Maria de Lourdes Lopes Ferrari Chauffaille
• Modalidade de apoio: Auxílio à Pesquisa - Regular