PMID- 11106816 OWN - NLM STAT- MEDLINE DCOM- 20001222 LR - 20190816 IS - 0165-4608 (Print) IS - 0165-4608 (Linking) VI - 122 IP - 2 DP - 2000 Oct 15 TI - Variant intra philadelphia translocation with rearrangement of BCR-ABL and ABL-BCR within the same chromosome in a patient with cALL. PG - 83-6 AB - 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 lymphoblastic 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 chromosomal abnormalities were identified by combined conventional chromosome banding analysis and fluorescence in situ hybridization (FISH). The BCR-ABL rearrangement was confirmed by FISH and reverse transcriptase-polymerase chain reaction (RT-PCR) studies. Possible mechanisms leading to this variant intra Philadelphia translocation are discussed. The aberrations found have prognostic implications, because 9p anomalies confer an adverse effect to the already poor prognosis of Philadelphia-positive ALL. FAU - Edelhauser, M AU - Edelhauser M AD - Institut fur Medizinische Biologie der Universitat Wien, Wahringer Strasse 10, 1090, Wien, Austria. FAU - Raber, W AU - Raber W FAU - Mitterbauer, G AU - Mitterbauer G FAU - Mannhalter, C AU - Mannhalter C FAU - Lechner, K AU - Lechner K FAU - Fonatsch, C AU - Fonatsch C LA - eng PT - Case Reports PT - Journal Article PL - United States TA - Cancer Genet Cytogenet JT - Cancer genetics and cytogenetics JID - 7909240 RN - 0 (Oncogene Proteins, Fusion) RN - 0 (abl-bcr fusion protein, human) RN - EC 2.7.10.2 (Fusion Proteins, bcr-abl) SB - IM MH - Adult MH - Chromosome Banding MH - Chromosomes, Human, Pair 2/genetics MH - Chromosomes, Human, Pair 22/genetics MH - Chromosomes, Human, Pair 8/genetics MH - Chromosomes, Human, Pair 9/genetics MH - Female MH - Fusion Proteins, bcr-abl/*genetics MH - Humans MH - In Situ Hybridization, Fluorescence MH - Karyotyping MH - Oncogene Proteins, Fusion/*genetics MH - *Philadelphia Chromosome MH - Precursor Cell Lymphoblastic Leukemia-Lymphoma/*genetics/pathology MH - Translocation, Genetic EDAT- 2000/12/07 11:00 MHDA- 2001/02/28 10:01 CRDT- 2000/12/07 11:00 PHST- 2000/12/07 11:00 [pubmed] PHST- 2001/02/28 10:01 [medline] PHST- 2000/12/07 11:00 [entrez] AID - S0165-4608(00)00267-3 [pii] AID - 10.1016/s0165-4608(00)00267-3 [doi] PST - ppublish SO - Cancer Genet Cytogenet. 2000 Oct 15;122(2):83-6. doi: 10.1016/s0165-4608(00)00267-3.