title: Breakpoint heterogeneity in t(10;11) translocation in AML-M4/M5 resulting in fusion of AF10 and MLL is resolved by fluorescent in situ hybridization analysis.
abstract: Ten AML-M4/M5 patients' samples containing a t(10;11) translocation, but with different cytogenetic breakpoints on chromosome 11q (11q13-23), were studied by G- and R-banding and fluorescent in situ hybridization. Southern blotting analysis, studied in five patients, revealed a rearranged MLL gene. Reverse transcription-PCR analysis carried out in six patients showed a 5' MLL-3' AF-10 fusion transcript. Fluorescent in situ hybridization studies suggested that in 8 of 10 patients, the rearrangement/fusion transcript resulted from an inversion of a part of 11q (q13q23) translocated to 10p12. In the other two patients, it is assumed that an inversion/translocation has occurred of a part of 10p to the der(11). The results suggest that the orientation of the AF-10 gene on 10p is 5' telomeric and 3' centromeric. This is the first example of opposite-oriented genes being involved in translocation to yield fusion transcripts.
authors.affiliation: Erasmus University, Department of Cell Biology and Genetics, Rotterdam, The Netherlands.
authors.forename: H B
authors.initials: HB
authors.lastname: Beverloo
authors.forename: M
authors.initials: M
authors.lastname: Le Coniat
authors.forename: J
authors.initials: J
authors.lastname: Wijsman
authors.forename: D M
authors.initials: DM
authors.lastname: Lillington
authors.forename: O
authors.initials: O
authors.lastname: Bernard
authors.forename: A
authors.initials: A
authors.lastname: de Klein
authors.forename: E
authors.initials: E
authors.lastname: van Wering
authors.forename: J
authors.initials: J
authors.lastname: Welborn
authors.forename: B D
authors.initials: BD
authors.lastname: Young
authors.forename: A
authors.initials: A
authors.lastname: Hagemeijer
mesh_terms: D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D002879:Chromosomes, Human, Pair 10; D002880:Chromosomes, Human, Pair 11; D003001:Cloning, Molecular; D004268:DNA-Binding Proteins / Q000235:genetics*; D011495:Histone-Lysine N-Methyltransferase; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D051788:Myeloid-Lymphoid Leukemia Protein; D016133:Polymerase Chain Reaction; D011519:Proto-Oncogenes; D014157:Transcription Factors / Q000235:genetics*; D014178:Translocation, Genetic
chemical_list: D004268:DNA-Binding Proteins; C497422:KMT2A protein, human; C092513:MLLT10 protein, human; D014157:Transcription Factors; D051788:Myeloid-Lymphoid Leukemia Protein; D011495:Histone-Lysine N-Methyltransferase