Molecular characterization of a rare MLL-AF4 (MLL-AFF1) fusion rearrangement in infant leukemia

• Tipo: Artigo em Revista Científica Internacional
• Data: 2007

Autores

Bizarro, S (Autor) Outra; cerveira, n (Autor) Outra; Correia, C (Autor) Outra; Lisboa, S (Autor) Outra; Peixoto, A (Autor) Outra; Norton, L (Autor) Outra; Manuel R Teixeira (Autor) ICBAS

Revista

Título: Cancer Genetics and Cytogenetics

Vol. 178

Páginas: 61-64

ISSN: 0165-4608

Editora: Elsevier B.V.

Indexação

ISI Web of Knowledge - 2 Citações

Scopus - 2 Citações

Outras Informações

ID Authenticus: P-004-6Y0

DOI: 10.1016/j.cancergencyto.2007.05.023

Abstract (EN): The t(4; 11)(q21;q23) involving the genes MLL and AF4 (alias for AFF1) is detected in 50-70% of infant leukemia. We characterize at both the DNA and RNA level a rare MLL-AF4 fusion transcript identified in a 15-month-old girl with acute lymphoblastic leukemia. Direct sequence analysis of the reverse transcriptase-polymerase chain reaction product showed an in-fraine fusion between MLL exon 9 and AF4 exon 6. We further demonstrated that the genomic breakpoints were located 1,553 bp downstream of MLL exon 9 and 1,239 bp upstream of AF4 exon 6. Four Alu repeats were detected in MLL intron 9 and two Alu repeats and one LINE I repetitive element were identified downstream of AF4 exon 5. Finally, a 9-bp polypurine (A) tract and an 8-bp polypyridimine (T) tract were found flanking the translocation breakpoint. In summary, we have characterized at both the RNA and the DNA level a rare MLL-AF4 fusion variant that was presumably mediated by Alu repeats or polypurine and polypyrimidine tracts located in the vicinity of genomic breakpoints.

Idioma: Inglês

Tipo (Avaliação Docente): Científica

Nº de páginas: 4