Insertion of MLL sequences into chromosome band 5q31 results in an MLL-AF5Q31 fusion and is a rare but recurrent abnormality associated with infant leukemia
Article first published online: 17 APR 2003
Copyright © 2003 Wiley-Liss, Inc.
Genes, Chromosomes and Cancer
Volume 37, Issue 3, pages 326–331, July 2003
How to Cite
Deveney, R., Chervinsky, D. S., Jani-Sait, S. N., Grossi, M. and Aplan, P. D. (2003), Insertion of MLL sequences into chromosome band 5q31 results in an MLL-AF5Q31 fusion and is a rare but recurrent abnormality associated with infant leukemia. Genes Chromosom. Cancer, 37: 326–331. doi: 10.1002/gcc.10224
- Issue published online: 14 MAY 2003
- Article first published online: 17 APR 2003
- Manuscript Accepted: 4 MAR 2003
- Manuscript Received: 9 DEC 2002
MLL gene rearrangements leading to production of MLL fusion proteins are commonly detected in infant leukemia patients; the most common MLL fusion associated with infant leukemia is the MLL-AF4 fusion. A single case of chromosomal rearrangement leading to production of an MLL fusion with AF5Q31, a gene structurally similar to AF4, has been detected recently in the malignant cells of an infant leukemia patient. We have identified a second case of MLL-AF5Q31 fusion, arising from an insertion of MLL sequences into chromosome 5, also in an infant leukemia patient. Because MLL and AF5Q31 are transcribed in opposite orientations, a simple balanced chromosomal translocation cannot produce a fusion protein, and complex chromosomal rearrangements such as insertions and inversions are required to produce an MLL-AF5Q31 fusion protein. This report demonstrates that chromosomal insertion of MLL sequences is a rare but recurrent abnormality associated with infant leukemia. © 2003 Wiley-Liss, Inc.