title: Patterns of BCR/ABL Gene Rearrangements in Chronic Myeloid Leukemia with Complex t(9;22) Using Fluorescence In Situ Hybridization (FISH).
abstract: Chronic myeloid leukemia (CML) is characterized by the reciprocal translocation t(9;22)(q34;q11.2) which fuses the ABL1 oncogene    on chromosome 9 with the BCR  gene on chromosome 22. It is the BCR/ABL protein that drives the neoplasm and the ABL/BCR is not    necessary for the disease. In the majority of CML cases, the  BCR/ABL fusion gene is cytogenetically recognizable as a small derivative    chromosome 22(der 22), which is known as the Philadelphia (Ph) chromosome. However, approximately 2-10% of patients with CML    involve cryptic or complex variant translocations with deletions on the der(9) and/or der(22) occuring in roughly 10-15% of CML  cases.    Fluorescence in situ hybridization (FISH) analysis can help identify deletions and complex or cryptic rearrangements. Various BCR/ABL    FISH probes are available, which include dual color single fusion, dual color extra signal (ES), dual color dual fusion and tri color dual    fusion probes. To test the utility of these probes, six patients diagnosed with CML carrying different complex variant Ph translocations    were studied by G-banding and FISH analysis using the BCR/ABL ES, BCR/ABL dual color dual fusion, and BCR/ABL tricolor probes.    There are differences among the probes in their ability to detect variant rearrangements, with or without accompanying chromoso me 9    and/or 22 deletions, and low level disease.
authors.affiliation: Department of Pathology, West Virginia University, Morgantown, WV.
authors.forename: Olukemi A
authors.initials: OA
authors.lastname: Esan
authors.forename: Jamie R
authors.initials: JR
authors.lastname: Senft
authors.forename: Sharon L
authors.initials: SL
authors.lastname: Wenger