RESUMO
Fluorescence in situ hybridization (FISH) analysis in a case of infant acute monocytic leukemia M5 revealed a complex rearrangement between chromosomes 10 and 11, leading to the disruption of the MLL gene. Using two painting probes for chromosomes 10 and 11 and a specific probe for the MLL gene localized on 11q23, we observed a paracentric inversion of the 11q13-q23 fragment translocated to 10p12. Molecular analysis showed that AF10 localized on 10p12 was the fusion partner gene of MLL in this rearrangement (10;11). This report underlined the usefulness of FISH and molecular techniques in identifying complex rearrangements.
Assuntos
Inversão Cromossômica , Cromossomos Humanos Par 10/ultraestrutura , Cromossomos Humanos Par 11/ultraestrutura , Proteínas de Ligação a DNA/genética , Leucemia Monocítica Aguda/genética , Proteínas de Fusão Oncogênica/genética , Proto-Oncogenes , Fatores de Transcrição/genética , Translocação Genética , Transplante de Medula Óssea , Cromossomos Humanos Par 10/genética , Cromossomos Humanos Par 11/genética , Histona-Lisina N-Metiltransferase , Humanos , Hibridização in Situ Fluorescente , Lactente , Masculino , Proteína de Leucina Linfoide-Mieloide , Translocação Genética/genéticaRESUMO
Medulloblastoma is the most frequent malignant brain tumor of the posterior fossa in children. As prognostic factors for this disease are not well-established, it seemed important to identify genetic features in these tumors. We present data provided by recent studies on conventional cytogenetic, molecular cytogenetic and molecular genetic in correlation with prognosis in these tumors.