title: Molecular characterization of the t(8;13)(p11;q12) translocation associated with an atypical myeloproliferative disorder: evidence for three discrete loci involved in myeloid leukemias on 8p11.
abstract: A reciprocal chromosome translocation between 13q12 and 8p11 is the consistent cytogenetic abnormality seen in a nonspecific myeloproliferative disorder that is associated with T-cell leukemia/lymphoma and peripheral blood eosinophilia. Detailed molecular analyses of the translocation breakpoints associated with this rearrangement have not been reported to date. We have now generated somatic cell hybrids from a newly described patient with this specific structural rearrangement and analyzed the breakpoints on the derivative chromosomes. We have shown that the breakpoint on chromosome 13 lies within a 300- to 500-kb region defined by the KIAA177 gene and D13S1123 marker. In addition, we have identified a 1.2-Mb YAC, 959A4, that crosses the translocation breakpoint on the short arm of chromosome 8 in this patient. The location of this breakpoint in 8p11 is distinct from the t(8;16) and t(8;22) translocations associated with M4/M5 myeloid leukemias, and suggests that three distinct loci located within 8p11 are involved in the pathogenesis of myeloid neoplasias.
authors.affiliation: Department of Neurosciences, Cleveland Clinic Foundation, OH 44195, USA.
authors.forename: I H
authors.initials: IH
authors.lastname: Still
authors.forename: O
authors.initials: O
authors.lastname: Chernova
authors.forename: D
authors.initials: D
authors.lastname: Hurd
authors.forename: R M
authors.initials: RM
authors.lastname: Stone
authors.forename: J K
authors.initials: JK
authors.lastname: Cowell
mesh_terms: D000328:Adult; D002478:Cells, Cultured; D002874:Chromosome Mapping; D002882:Chromosomes, Human, Pair 13; D002898:Chromosomes, Human, Pair 8; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007951:Leukemia, Myeloid / Q000235:genetics*; D008297:Male; D016133:Polymerase Chain Reaction; D014178:Translocation, Genetic