title: Identifying the similarities and differences between single nucleotide polymorphism array (SNPa) analysis and karyotyping in acute myeloid leukemia and myelodysplastic syndromes.
abstract: OBJECTIVE
  To standardize the single nucleotide polymorphism array (SNPa) method in acute myeloid leukemia/myelodysplastic syndromes, and to identify the similarities and differences 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(®) 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 abnormal (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).
  
  
  CONCLUSIONS
  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.
authors: Universidade Federal de São Paulo (UNIFESP), São Paulo, SP, Brazil. Electronic address: thinoronha@yahoo.com.br.
authors: Thiago Rodrigo de
authors: TR
authors: Noronha
authors: Universidade Federal de São Paulo (UNIFESP), São Paulo, SP, Brazil.
authors: Sandra Serson
authors: SS
authors: Rohr
authors: Universidade Federal de São Paulo (UNIFESP), São Paulo, SP, Brazil; Grupo Fleury, São Paulo, Brazil.
authors: Maria de Lourdes Lopes Ferrari
authors: Mde L
authors: Chauffaille
keywords: Acute myeloid leukemia; Karyotype; Loss of heterozygosity; Myelodysplastic syndromes; Single nucleotide polymorphism
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