title: 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.
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.
authors.affiliation: Dipartimento di Scienze Biomediche e Terapie Avanzate, Sezione di Ematologia, University of Ferrara, Italy.
authors.forename: Francesco
authors.initials: F
authors.lastname: Cavazzini
authors.forename: Antonella
authors.initials: A
authors.lastname: Bardi
authors.forename: Elisa
authors.initials: E
authors.lastname: Tammiso
authors.forename: Maria
authors.initials: M
authors.lastname: Ciccone
authors.forename: Antonella
authors.initials: A
authors.lastname: Russo-Rossi
authors.forename: Domenica
authors.initials: D
authors.lastname: Divona
authors.forename: Francesco
authors.initials: F
authors.lastname: Lo Coco
authors.forename: Jesus Maria
authors.initials: JM
authors.lastname: Hernandez
authors.forename: Iwona
authors.initials: I
authors.lastname: Wlodarska
authors.forename: Anne
authors.initials: A
authors.lastname: Hagemeijer
authors.forename: Gianluigi
authors.initials: G
authors.lastname: Castoldi
authors.forename: Antonio
authors.initials: A
authors.lastname: Cuneo
mesh_terms: D015321:Gene Rearrangement / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods* / Q000592:standards; D007399:Interphase / Q000235:genetics*; D015470:Leukemia, Myeloid, Acute / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D051788:Myeloid-Lymphoid Leukemia Protein / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D015514:Oncogene Proteins, Fusion / Q000235:genetics*
chemical_list: C474558:MLL-AF9 fusion protein, human; C489901:MLLT3 protein, human; D009687:Nuclear Proteins; D015514:Oncogene Proteins, Fusion; D051788:Myeloid-Lymphoid Leukemia Protein