FIP1L1-PDGFRA and c-kit D816V mutation-based clonality studies in systemic mast cell disease associated with eosinophilia

Haematologica. 2004 Jul;89(7):871-3.

Abstract

Laboratory methods to detect both FIP1L1-PDGFRA and c-kit D816V mutations were combined with immunomagnetic cell separation to study the extent of clonal involvement by both myeloid and lymphoid cells in 3 patients with systemic mastocytosis associated with eosinophilia. The results suggested an early stem cell origin for the FIP1L1-PDGFRA mutation.

Publication types

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

MeSH terms

  • Aged, 80 and over
  • Eosinophilia / complications
  • Eosinophilia / genetics
  • Female
  • Humans
  • Male
  • Mastocytosis, Systemic / blood
  • Mastocytosis, Systemic / complications
  • Mastocytosis, Systemic / genetics*
  • Middle Aged
  • Mutation
  • Oncogene Proteins, Fusion / genetics*
  • Proto-Oncogene Proteins c-kit / genetics*
  • Receptor, Platelet-Derived Growth Factor alpha / genetics*
  • mRNA Cleavage and Polyadenylation Factors / genetics*

Substances

  • Oncogene Proteins, Fusion
  • mRNA Cleavage and Polyadenylation Factors
  • FIP1L1-PDGFRA fusion protein, human
  • Proto-Oncogene Proteins c-kit
  • Receptor, Platelet-Derived Growth Factor alpha