Identifying the similarities and differences between single nucleotide polymorphism array (SNPa) analysis and karyotyping in acute myeloid leukemia and myelodysplastic syndromes
Rev. bras. hematol. hemoter
; Rev. bras. hematol. hemoter;37(1): 48-54, Jan-Feb/2015. tab, graf, ilus
Article
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| LILACS
| ID: lil-741876
Biblioteca responsable:
BR408.1
Ubicación: BR408.1
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 arrayanalysis:
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. .Palabras clave
Texto completo:
1
Índice:
LILACS
Asunto principal:
Síndromes Mielodisplásicos
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Leucemia Mieloide Aguda
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Pérdida de Heterocigocidad
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Polimorfismo de Nucleótido Simple
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Cariotipo
Límite:
Humans
Idioma:
En
Revista:
Rev. bras. hematol. hemoter
Asunto de la revista:
HEMATOLOGIA
Año:
2015
Tipo del documento:
Article
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Project document