Medical Oncology

, 30:579 | Cite as

Single-nucleotide polymorphism-array improves detection rate of genomic alterations in core-binding factor leukemia

  • Ana Rosa da Silveira Costa
  • Anupama Vasudevan
  • Ana Krepischi
  • Carla Rosenberg
  • Maria de Lourdes L. F. Chauffaille
Original Paper


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.


Acute myeloid leukemia Chromosome aberration Mutation Loss of heterozygosity Oligonucleotide array sequence analysis 


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Copyright information

© Springer Science+Business Media New York 2013

Authors and Affiliations

  • Ana Rosa da Silveira Costa
    • 1
  • Anupama Vasudevan
    • 2
  • Ana Krepischi
    • 3
  • Carla Rosenberg
    • 4
  • Maria de Lourdes L. F. Chauffaille
    • 1
  1. 1.Division of Hematology and HemotherapyUNIFESP/Escola Paulista de MedicinaSão PauloBrazil
  2. 2.Department of PathologyBrigham and Women’s HospitalBostonUSA
  3. 3.CIPE-Hospital AC CamargoSão PauloBrazil
  4. 4.Departamento de Genética e Biologia Evolutiva–IBUSPSão PauloBrazil

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