[A man with oral ulcers caused by hypereosinophilic syndrome and a good response to the tyrosine-kinase inhibitor imatinib]

Ned Tijdschr Geneeskd. 2006 May 27;150(21):1188-92.
[Article in Dutch]

Abstract

For the last 2 years, a 55-year-old man had painful, recurrent oral ulcers. Histological examination showed non-specific inflammation. Eosinophilia in the blood and bone marrow raised the suspicion of hypereosinophilic syndrome. No other specific organ involvement was observed. The diagnosis was confirmed by detection of the fusion gene 'FIP1-like-1-platelet-derived growth factor receptor alpha' (FIP1L1-PDGFRA) in the peripheral blood and bone marrow. Treatment with the tyrosine-kinase inhibitor imatinib resulted in a rapid response that has been maintained for more than 2 years. Hypereosinophilic syndrome is a rare haematological disorder. Until recently diagnosis was made by exclusion, and the course of disease was often fatal. Fusion of the FIP1L1 gene to the PDGFRA gene was identified recently in some patients with hypereosinophilic syndrome. The fusion results in a novel tyrosine kinase that is constitutively activated and may induce proliferation ofhaematopoietic cells. Treatment with imatinib targets this tyrosine kinase. These advances in our understanding of the molecular biology of the disease will lead to a new classification of hypereosinophilic syndrome with specific therapeutic options.

Publication types

  • Case Reports
  • Comment

MeSH terms

  • Benzamides
  • Humans
  • Hypereosinophilic Syndrome / complications
  • Hypereosinophilic Syndrome / drug therapy*
  • Hypereosinophilic Syndrome / genetics
  • Imatinib Mesylate
  • Male
  • Middle Aged
  • Oncogene Proteins, Fusion / genetics
  • Oral Ulcer / drug therapy*
  • Oral Ulcer / etiology
  • Piperazines / therapeutic use*
  • Protein Kinase Inhibitors / therapeutic use*
  • Protein-Tyrosine Kinases / antagonists & inhibitors*
  • Protein-Tyrosine Kinases / genetics
  • Pyrimidines / therapeutic use*
  • Receptor, Platelet-Derived Growth Factor alpha / genetics
  • mRNA Cleavage and Polyadenylation Factors / genetics

Substances

  • Benzamides
  • Oncogene Proteins, Fusion
  • Piperazines
  • Protein Kinase Inhibitors
  • Pyrimidines
  • mRNA Cleavage and Polyadenylation Factors
  • Imatinib Mesylate
  • FIP1L1-PDGFRA fusion protein, human
  • Protein-Tyrosine Kinases
  • Receptor, Platelet-Derived Growth Factor alpha