Segmental amplification of MLL gene associated with high expression of AURKA and AURKB genes in a case of acute monoblastic leukemia with complex karyotype

Autor(es)

de Oliveira, Fabio Morato ^{[1, 2]} ; Lucena-Araujo, Antonio Roberto ^{[1, 2]} ; Leite-Cueva, Sabrina D. ^[3] ; Santos, Guilherme Augusto S. ^{[1, 2]} ; Rego, Eduardo M. ^{[1, 2]} ; Falcao, Roberto P. ^{[1, 2]}

Afiliação do(s) autor(es)

^[1] Univ Sao Paulo, Fac Med Ribeirao Preto, Dept Internal Med, Ribeirao Preto - Brazil

^[2] Natl Inst Sci & Technol Stem Cell & Cell Therapy, Ribeirao Preto - Brazil

^[3] Univ Sao Paulo, Fac Med Ribeirao Preto, Dept Genet, Ribeirao Preto - Brazil

• Tipo de documento: Artigo Científico
• Fonte: Cancer Genetics and Cytogenetics; v. 198, n. 1, p. 62-65, APR 1 2010.
• Citações Web of Science: 2

Resumo

We report a case of acute monoblastic leukemia showing a jumping translocation with the MLL gene in a 17-year-old male. Classic cytogenetic and spectral karyotyping revealed a complex karyotype, and fluorescence in situ hybridization (FISH) demonstrated amplification of the MLL gene followed by translocation to chromosomes 15q, 17q, and 19q. In addition, molecular analyses showed a high expression of AURKA and AURKB genes. It is already known that overexpression of Aurora kinases is associated with chromosomal instability and poor prognosis. The formation of jumping translocations is a rare cytogenetic event and there is evidence pointing toward preferential involvement of the heterochromatin region of donor chromosomes and the telomere ends of recipient chromosomes. Jumping translocation with the MLL gene rearrangement is an uncommon phenomenon reported in leukemia cytogenetics. (C) 2010 Elsevier Inc. All rights reserved. (AU)

• Processo FAPESP: 07/52462-7 - Citogenética clássica e cariótipo espectral (SKY) aplicados à caracterização da leucemia linfocítica crônica B (LLC-B) imunoestimulada pelo oligonucleotídeo DSP30 e IL-2
• Beneficiário: Fábio Morato de Oliveira
• Modalidade de apoio: Bolsas no Brasil - Pós-Doutorado