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

Beverloo, H.B.; Le Coniat, M.; Wijsman, J.; Lillington, D.M.; Bernard, O.; de Klein, A.; van Wering, E.; Welborn, J.; Young, B.D.; Hagemeijer, A.; Beverloo, H.B; Le Coniat, M; Wijsman, J; Lillington, D.M; Bernard, O; de Klein, A; van Wering, E; Welborn, J; Young, B.D; Hagemeijer, A

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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

Beverloo, H.B.; Le Coniat, M.; Wijsman, J.; Lillington, D.M.; Bernard, O.; de Klein, A.; van Wering, E.; Welborn, J.; Young, B.D.; Hagemeijer, A.

Cancer Research 55(19): 4220-4224

1995

ISSN/ISBN: 0008-5472

PMID: 7671224

Document Number: 454336

Ten AML-M4/M5 patients' samples containing a t(10;11) translocation, but with different cytogenetic breakpoints on chromosome 11q (11q1323), 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.