| Autor: |
Costa AR; Division of Hematology and Hemotherapy, UNIFESP/Escola Paulista de Medicina, São Paulo, SP, CEP: 04037-002, Brazil. aninhabra@yahoo.com.br, Vasudevan A, Krepischi A, Rosenberg C, Chauffaille Mde L |
| Jazyk: |
angličtina |
| Zdroj: |
Medical oncology (Northwood, London, England) [Med Oncol] 2013; Vol. 30 (2), pp. 579. Date of Electronic Publication: 2013 May 01. |
| DOI: |
10.1007/s12032-013-0579-7 |
| Abstrakt: |
Acute myeloid leukemia (AML) is a group of clonal diseases, resulting from two classes of mutation. Investigation for additional abnormalities associated with a well-recognized subtype, core-binding factor AML (CBF-AML) can provide further understanding and discrimination to this special group of leukemia. In order to better define genetic alterations in CBF-AML and identify possible cooperating lesions, a single-nucleotide polymorphism-array (SNP-array) analysis was performed, combined to KIT mutation screening, in a set of cases. Validation of SNP-array results was done by array comparative genomic hybridization and FISH. Fifteen cases were analyzed. Three cases had microscopic lesions better delineated by arrays. One case had +22 not identified by arrays. Submicroscopic abnormalities were mostly non-recurrent between samples. Of relevance, four regions were more frequently affected: 4q28, 9p11, 16q22.1, and 16q23. One case had an uncovered unbalanced inv(16) due to submicroscopic deletion of 5´MYH11 and 3´CBFB. Telomeric and large copy number neutral loss of heterozygosity (CNN-LOH) regions (>25 Mb), likely representing uniparental disomy, were detected in four out of fifteen cases. Only three cases had mutation on KIT gene, enhancing the role of abnormalities by SNP-array as presumptive cooperating alterations. Molecular karyotyping can add valuable information to metaphase karyotype analysis, emerging as an important tool to uncover and characterize microscopic, submicroscopic genomic alterations, and CNN-LOH events in the search for cooperating lesions. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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