Cloning of the t(1;5)(q23;q33) in a myeloproliferative disorder associated with eosinophilia: involvement of PDGFRB and response to imatinib

Blood. 2003 Dec 1;102(12):4187-90. doi: 10.1182/blood-2003-04-1150. Epub 2003 Aug 7.

Abstract

Eosinophilia is common in myeloproliferative disorders (MPDs) with abnormalities of chromosome band 5q31-33, including those that present with t(1;5)(q23;q33). With the development of rational drug therapy, characterization of the molecular targets for these translocations could guide treatment and affect patient survival. We cloned the t(1;5)(q23;q33) and showed that it fuses platelet-derived growth factor receptor beta (PDGFRB) to the coiled-coil domains of a novel partner protein, myomegalin. Using two-color interphase fluorescence in situ hybridization (FISH), we also demonstrated that the eosinophils are clonal in these disorders. Imatinib mesylate has recently been shown to be efficacious in MPDs with PDGFR activation. Therefore, following our molecular studies, we were able to redirect this patient's treatment. Although she had refractory and progressive disease, once imatinib was started, complete clinical and hematologic remission, as well as major cytogenetic response, was achieved. Given the therapeutic implications, our findings stress the need to aggressively investigate the molecular basis of these diseases, with emphasis on the PDGFR family.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Benzamides
  • Chromosomes, Human, Pair 1
  • Chromosomes, Human, Pair 5
  • Clone Cells / pathology
  • Cloning, Molecular
  • Eosinophilia / etiology*
  • Eosinophilia / genetics
  • Eosinophilia / pathology
  • Female
  • Humans
  • Imatinib Mesylate
  • Infant
  • Microtubule-Associated Proteins / genetics
  • Myeloproliferative Disorders / complications
  • Myeloproliferative Disorders / drug therapy*
  • Myeloproliferative Disorders / genetics*
  • Piperazines / therapeutic use*
  • Pyrimidines / therapeutic use*
  • Receptor, Platelet-Derived Growth Factor beta / genetics*
  • Remission Induction
  • Translocation, Genetic

Substances

  • Benzamides
  • Microtubule-Associated Proteins
  • Pde4dip protein, rat
  • Piperazines
  • Pyrimidines
  • Imatinib Mesylate
  • Receptor, Platelet-Derived Growth Factor beta