MLL/GRAF fusion in an infant acute monocytic leukemia (AML M5b) with a cytogenetically cryptic ins(5;11)(q31;q23q23)

Genes, Chromosomes & Cancer
Ioannis PanagopoulosBertil Johansson

Abstract

More than 30 fusions involving the MLL gene at 11q23 have been reported in acute myeloid leukemia (AML). Some of these chimeras are rather common, such as MLL/MLLT3(AF9), but many are quite rare, with some, for example, MLL/GRAF, described only in a single case. The MLL/GRAF fusion, in which the reciprocal hybrid was not expressed, suggesting that the former transcript was the leukemogenic one, was detected in a juvenile myelomonocytic leukemia with a t(5;11)(q31;q23). Here, we report a second case--an infant acute monocytic leukemia (AML M5b)--with an MLL/GRAF fusion. By conventional G-banding, the karyotype was normal. However, Southern blot and fluorescence in situ hybridization analyses revealed that MLL was rearranged and that the 5' part of the MLL gene was inserted into 5q in the vicinity of 5q31, which harbors GRAF. Reverse-transcriptase polymerase chain reaction (PCR) showed that exon 9 of MLL was fused in-frame with exon 19 of GRAF. Extralong genomic PCR with subsequent sequence analysis demonstrated that the breakpoints occurred in intron 9 of MLL, nine base pairs (bp) downstream from exon 9, and in intron 18 of GRAF, 117 bp downstream from exon 18. A 6-bp insertion (ACACTC) of unknown origin was present at the junct...Continue Reading

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Citations

Jul 24, 2013·Oncology Reports·Ioannis PanagopoulosSverre Heim
May 14, 2008·Cancer Genetics and Cytogenetics·Gwendoline SolerRoland Berger
Oct 18, 2005·European Journal of Cancer : Official Journal for European Organization for Research and Treatment of Cancer (EORTC) [and] European Association for Cancer Research (EACR)·Helena Santos-Rosa, Carlos Caldas
Oct 11, 2017·Development·Sungdae KimSeungbok Lee
Sep 26, 2007·Human Molecular Genetics·Ahmad MiremadiCarlos Caldas
Sep 17, 2009·Biochemical Society Transactions·Gary J Doherty, Richard Lundmark
Oct 31, 2021·Molecular and Cellular Biochemistry·Lingye ZhangShutian Zhang

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