AI Article Synopsis
- Chromosomal rearrangements of the MLL gene at 11q23 are common in infant acute myeloid leukemia, with reciprocal translocations being the most frequent.
- A specific case is reported of a 23-month-old child with acute myeloid leukemia featuring a t(11;22) translocation, which involved the SEPT5 gene on chromosome 22.
- The study utilized fluorescence in situ hybridization and inverse-polymerase chain reaction to confirm the MLL-SEPT5 fusion, highlighting its rarity and reviewing the clinical and molecular aspects of this unique genetic alteration.
Article Abstract
Chromosomal rearrangements involving the MLL gene at band 11q23 are the most common genetic alteration encountered in infant acute myeloid leukemia. Reciprocal translocation represents the most frequent form of MLL rearrangement. Currently, more than 60 partner genes have been identified. We report here a case of de novo acute myeloid leukemia with a t(11;22)(q23;q11) in a 23-month-old child. Fluorescence in situ hybridization study revealed that the 3'MLL segment was translocated onto the derivative chromosome 22 and the breakpoint on chromosome 22 was located in or near the SEPT5 gene at 22q11.21. Long distance inverse-polymerase chain reaction was used to identify precisely the MLL partner gene and confirmed the MLL-SEPT5 fusion transcript. Involvement of the SEPT5 gene in MLL rearrangement occurs very rarely. Clinical, cytogenetic and molecular features of acute myeloid leukemia with a MLL-SEPT5 fusion gene are reviewed.
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| http://dx.doi.org/10.3109/10428194.2013.809528 | DOI Listing |
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