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

Francesco Cavazzini, Antonella Bardi, Elisa Tammiso, Maria Ciccone, Antonella Russo-Rossi, Domenica Divona, Francesco Lo Coco, Jesus Maria Hernandez, Iwona Wlodarska, Anne Hagemeijer, Gianluigi Castoldi, Antonio Cuneo

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)381-385
Number of pages5
JournalHaematologica
Volume91
Issue number3
Publication statusPublished - Mar 2006

Keywords

  • Acute leukemia
  • Cytogenetics
  • FISH
  • MLL

ASJC Scopus subject areas

  • Hematology

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