Variant intra Philadelphia translocation with rearrangement of BCR-ABL andABL-BCR within the same chromosome in a patient with cALL

A unique variant Philadelphia translocation accompanied by the loss of the short arm of chromosome 9 in a 32-year-old female with common acute lymphob lastic leukemia (cALL) is described. Furthermore, supernumerary chromosome 8 material was found as an insertion into the long arm of chromosome 2 and/ or as ring chromosomes in addition to two normal chromosomes 8. The chromos omal abnormalities were identified by combined conventional chromosome band ing analysis and fluorescence in situ hybridization (FISH). The BCR-ABL rea rrangement was confirmed by FISH and reverse transcriptase-polymerase chain reaction (RT-PCR) studies. Possible mechanisms leading to this variant int ra Philadelphia translocation are discussed. The aberrations found have pro gnostic implications, because 9p anomalies confer an adverse effect to the already poor prognosis of Philadelphia-positive ALL. (C) 2000 Elsevier Scie nce Inc. All rights reserved.