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

H. Berna Beverloo, Jacqueline Wijsman, Annelies de Klein, Anne Hagemeijer, Maryvonne Le Coniat, Olivier Bernard, Roland Berger, Debra M. Lillington, Bryan D. Young, Elisabeth van Wering, Jeanna Welborn

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    Abstract

    Ten AML-M4/M5 patients’ samples containing a t(10;11) translocation, but with different cytogenetic breakpoints on chromosome 11q (11ql3-23), 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 (ql3q23) translocated to 10pl2. In the other two patients, it is assumed that an inversion/translocation has occurred of a part of lOp to the der(ll). The results suggest that the orientation of the AF-10 gene on lOp is 5’ telomeric and 3’ centromeric This is the first example of opposite-oriented genes being involved in translocation to yield fusion transcripts.

    Original languageEnglish
    Pages (from-to)4220-4224
    Number of pages5
    JournalCancer Research
    Volume55
    Issue number19
    Publication statusPublished - 1 Oct 1995

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