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(Reference retrieved automatically from SciELO through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

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

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Author(s):
Thiago Rodrigo de Noronha [1] ; Sandra Serson Rohr [2] ; Maria de Lourdes Lopes Ferrari Chauffaille
Total Authors: 3
Affiliation:
[1] Universidade Federal de São Paulo - Brasil
[2] Universidade Federal de São Paulo - Brasil
Total Affiliations: 3
Document type: Journal article
Source: Revista Brasileira de Hematologia e Hemoterapia; v. 37, n. 1, p. 48-54, 2015-02-00.
Abstract

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)

FAPESP's process: 11/51751-0 - Frequency evaluation of cytogenetic and molecular alterations in AML at diagnosis and sequentially in the remission
Grantee:Maria de Lourdes Lopes Ferrari Chauffaille
Support Opportunities: Regular Research Grants