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

Blood. 1997 Oct 15;90(8):3136-41.

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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Cells, Cultured
  • Chromosome Mapping
  • Chromosomes, Human, Pair 13*
  • Chromosomes, Human, Pair 8*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Leukemia, Myeloid / genetics*
  • Male
  • Polymerase Chain Reaction
  • Translocation, Genetic*