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

• Type: Article in International Scientific Journal
• Date: 2007

Authors

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

Journal

Title: Cancer Genetics and Cytogenetics

Vol. 178

Pages: 61-64

ISSN: 0165-4608

Publisher: Elsevier B.V.

Indexing

ISI Web of Knowledge - 2 Citations

Scopus - 2 Citations

Other information

Authenticus ID: 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.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 4