Case of polycythemia vera concurrent with FIP1L1-PDGFRA-positive myeloproliferative neoplasm with eosinophilia

Cancer Genet. 2012 Oct;205(10):519-22. doi: 10.1016/j.cancergen.2012.05.010. Epub 2012 Sep 1.

Abstract

We report an unusual case of a symptomatic patient who initially had high hemoglobin and low serum erythropoietin levels, fitting a clinical diagnosis of polycythemia vera. However, after treatment with hydroxyurea and serial phlebotomies had been started, the patient developed hypereosinophilia, fitting the category of a myeloproliferative neoplasm with eosinophilia associated with the FIP1L1-PDGFRA gene fusion, as confirmed by molecular analysis. We discuss the clinical presentation, evolution, response to treatment, and pathogenetic implications of this case.

Publication types

  • Case Reports

MeSH terms

  • Antineoplastic Agents / therapeutic use
  • Benzamides
  • Biopsy
  • Eosinophilia / complications
  • Eosinophilia / diagnosis*
  • Eosinophilia / genetics*
  • Genetic Predisposition to Disease
  • Humans
  • Imatinib Mesylate
  • Male
  • Middle Aged
  • Models, Genetic
  • Mutation
  • Myeloproliferative Disorders / complications
  • Myeloproliferative Disorders / diagnosis
  • Myeloproliferative Disorders / genetics*
  • Piperazines / therapeutic use
  • Polycythemia Vera / complications
  • Polycythemia Vera / diagnosis*
  • Polycythemia Vera / genetics*
  • Pyrimidines / therapeutic use
  • Receptor, Platelet-Derived Growth Factor alpha / genetics*
  • Remission Induction
  • mRNA Cleavage and Polyadenylation Factors / genetics*

Substances

  • Antineoplastic Agents
  • Benzamides
  • FIP1L1 protein, human
  • Piperazines
  • Pyrimidines
  • mRNA Cleavage and Polyadenylation Factors
  • Imatinib Mesylate
  • Receptor, Platelet-Derived Growth Factor alpha

Supplementary concepts

  • Myeloproliferative Disorder, Chronic, with Eosinophilia