PMID- 14580766 OWN - NLM STAT- MEDLINE DCOM- 20031203 LR - 20220321 IS - 0165-4608 (Print) IS - 0165-4608 (Linking) VI - 147 IP - 1 DP - 2003 Nov TI - Genesis of variant Philadelphia chromosome translocations in chronic myelocytic leukemia. PG - 18-22 AB - The Philadelphia (Ph) chromosome is found in more than 90% of chronic myelocytic leukemia (CML) patients. In most cases, it results from the reciprocal t(9;22)(q34;q11), with the ABL proto-oncogene from 9q34 fused to the breakpoint cluster region (BCR) locus on 22q11. In 5%-10% of patients with CML, the Ph chromosome originates from variant translocations, involving various breakpoints in addition to 9q34 and 22q11. In our investigation, three CML cases with complex Ph translocations have been analyzed by G-banding and fluorescence in situ hybridization (FISH). FISH with breakpoint-spanning probes for the BCR and ABL genes revealed information about the genesis of complex Ph translocations. The occurrence of one fusion signal indicates a one-step mechanism (case 1). Two fusion signals indicate a two-step mechanism (case 2). Lack of signals indicates deletions of parts of the BCR and ABL genes or of adjacent regions (case 3). FAU - Naumann, Sabine AU - Naumann S AD - Third Medical Clinic, Department of Hematology, Johannes Gutenberg University of Mainz, Germany. FAU - Decker, Hans-Jochen AU - Decker HJ LA - eng PT - Case Reports PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - United States TA - Cancer Genet Cytogenet JT - Cancer genetics and cytogenetics JID - 7909240 RN - 0 (Genetic Markers) RN - 0 (MAS1 protein, human) RN - 0 (Proto-Oncogene Mas) SB - IM MH - Adult MH - Chromosome Banding MH - Chromosomes, Human, Pair 11 MH - Chromosomes, Human, Pair 22 MH - Chromosomes, Human, Pair 9 MH - Female MH - Genetic Markers MH - *Genetic Variation MH - Humans MH - In Situ Hybridization, Fluorescence MH - Karyotyping MH - Leukemia, Myelogenous, Chronic, BCR-ABL Positive/*genetics MH - Male MH - Middle Aged MH - *Philadelphia Chromosome MH - Proto-Oncogene Mas MH - *Translocation, Genetic EDAT- 2003/10/29 05:00 MHDA- 2003/12/04 05:00 CRDT- 2003/10/29 05:00 PHST- 2003/10/29 05:00 [pubmed] PHST- 2003/12/04 05:00 [medline] PHST- 2003/10/29 05:00 [entrez] AID - S0165460803001286 [pii] AID - 10.1016/s0165-4608(03)00128-6 [doi] PST - ppublish SO - Cancer Genet Cytogenet. 2003 Nov;147(1):18-22. doi: 10.1016/s0165-4608(03)00128-6.