Haematologica
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Haematologica, Vol 91, Issue 3, 381-385
Copyright © 2006 by Ferrata Storti Foundation

Comparative Study

Validation of an interphase fluorescence in situ hybridization approach for the detection of MLL gene rearrangements and of the MLL/AF9 fusion in acute myeloid leukemia

F Cavazzini, A Bardi, E Tammiso, M Ciccone, A Russo-Rossi, D Divona, F Lo Coco, JM Hernandez, I Wlodarska, A Hagemeijer, G Castoldi, and A Cuneo

Dipartimento di Scienze Biomediche e Terapie Avanzate, Sezione di Ematologia, University of Ferrara, Italy.

To validate a 2-step FISH assay for the identification of the t(9;11)(p22;q23), 96 acute myeloid leukemias were studied by cytogenetic analysis, FISH and molecular biology. After a first FISH step using an MLL probe, 24/27 cases with 11q23 break showed MLL rearrangement. Southern blotting confirmed FISH data. In the second step, 24 cases with MLL rearrangement were studied using MLL and AF9 probes: 17/18 cases with t(9;11) showed MLL/AF9 fusion. In 6 patients with 11q23/MLL rearrangements other than t(9;11), FISH confirmed MLL involvement and excluded AF9 involvement. This is a reliable method for the identification of MLL/AF9 fusion in interphase cells, allowing for a reclassification of cases with suboptimal chromosome morphology. The frequency of deletion surrounding MLL and AF9 breakpoint is low.


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F. Lo-Coco, A. Cuneo, F. Pane, D. Cilloni, D. Diverio, M. Mancini, N. Testoni, A. Bardi, B. Izzo, N. Bolli, et al.
Prognostic impact of genetic characterization in the GIMEMA LAM99P multicenter study for newly diagnosed acute myeloid leukemia
Haematologica, July 1, 2008; 93(7): 1017 - 1024.
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