title: High incidence of a second BCR-ABL fusion in chronic myeloid leukemia revealed by interphase cytogenetic analysis on blood and bone marrow smears.
abstract: The t(9;22)(q34;q11) is the single most common chromosomal abnormality in leukemias. Recently, dual-color fluorescence in situ hybridization (FISH) protocols for the detection of the BCR-ABL fusion, which is the molecular counterpart of this translocation, have been described. In the present study, we analyzed blood or bone marrow smears of 46 patients (34 with chronic myeloid leukemia [CML] and 12 with acute lymphoblastic leukemia [ALL]) for the presence of a BCR-ABL fusion. On these clinical routine samples, hybridization was performed with high efficiency and the BCR-ABL fusion was detected reliably. This series includes one case with a Philadelphia chromosome (Ph) on banding analysis and negative reverse transcriptase polymerase chain reaction (RT-PCR) results. Surprisingly, in 13 of the 34 CML patients (4 of 17 patients with chronic phase and 9 of 17 patients with blast crisis), and in 1 of the 12 ALL patients, an additional BCR-ABL fusion was diagnosed in 4% to 72.5% of interphase cells. In 10 of these 14 patients, banding data are available; only in two cases was the additional Ph detected by metaphase analysis. The data from this interphase cytogenetic analysis indicate that an additional Ph occurs more frequently than would be assumed based on banding analysis.
authors.affiliation: Medizinische Klinik und Poliklinik V, Universität Heidelberg, Germany.
authors.forename: G P
authors.initials: GP
authors.lastname: Cabot
authors.forename: M
authors.initials: M
authors.lastname: Bentz
authors.forename: C
authors.initials: C
authors.lastname: Scholl
authors.forename: M
authors.initials: M
authors.lastname: Moos
authors.forename: K
authors.initials: K
authors.lastname: Fischer
authors.forename: P
authors.initials: P
authors.lastname: Lichter
authors.forename: H
authors.initials: H
authors.lastname: Döhner
mesh_terms: D000328:Adult; D000368:Aged; D001853:Bone Marrow / Q000473:pathology*; D002869:Chromosome Aberrations; D015342:DNA Probes; D005260:Female; D016044:Fusion Proteins, bcr-abl / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000097:blood / Q000235:genetics*; D008297:Male; D008875:Middle Aged
chemical_list: D015342:DNA Probes; D016044:Fusion Proteins, bcr-abl