6533b857fe1ef96bd12b3b17
RESEARCH PRODUCT
Genesis of variant Philadelphia chromosome translocations in chronic myelocytic leukemia.
Hans-jochen DeckerSabine Naumannsubject
AdultGenetic MarkersMaleCancer Researchmedicine.medical_specialtyChromosomes Human Pair 22Chromosomal translocationLocus (genetics)BiologyPhiladelphia chromosomeProto-Oncogene MasTranslocation Genetichemic and lymphatic diseasesLeukemia Myelogenous Chronic BCR-ABL PositiveGeneticsmedicineHumansPhiladelphia ChromosomeMolecular BiologyIn Situ Hybridization FluorescenceGeneticsABLmedicine.diagnostic_testChromosomes Human Pair 11BreakpointCytogeneticsbreakpoint cluster regionGenetic VariationMiddle Agedmedicine.diseaseChromosome BandingKaryotypingFemaleChromosomes Human Pair 9Fluorescence in situ hybridizationdescription
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).
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2003-11-01 | Cancer genetics and cytogenetics |