The FIP1L1-PDGFRalpha fusion tyrosine kinase in hypereosinophilic syndrome and chronic eosinophilic leukemia: implications for diagnosis, classification, and management

Blood. 2004 Apr 15;103(8):2879-91. doi: 10.1182/blood-2003-06-1824. Epub 2003 Nov 20.

Abstract

Idiopathic hypereosinophilic syndrome (HES) and chronic eosinophilic leukemia (CEL) comprise a spectrum of indolent to aggressive diseases characterized by unexplained, persistent hypereosinophilia. These disorders have eluded a unique molecular explanation, and therapy has primarily been oriented toward palliation of symptoms related to organ involvement. Recent reports indicate that HES and CEL are imatinib-responsive malignancies, with rapid and complete hematologic remissions observed at lower doses than used in chronic myelogenous leukemia (CML). These BCR-ABL-negative cases lack activating mutations or abnormal fusions involving other known target genes of imatinib, implicating a novel tyrosine kinase in their pathogenesis. A bedside-to-benchtop translational research effort led to the identification of a constitutively activated fusion tyrosine kinase on chromosome 4q12, derived from an interstitial deletion, that fuses the platelet-derived growth factor receptor-alpha gene (PDGFRA) to an uncharacterized human gene FIP1-like-1 (FIP1L1). However, not all HES and CEL patients respond to imatinib, suggesting disease heterogeneity. Furthermore, approximately 40% of responding patients lack the FIP1L1-PDGFRA fusion, suggesting genetic heterogeneity. This review examines the current state of knowledge of HES and CEL and the implications of the FIP1L1-PDGFRA discovery on their diagnosis, classification, and management.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Algorithms
  • Antineoplastic Agents / therapeutic use
  • Benzamides
  • Cytogenetics
  • Humans
  • Hypereosinophilic Syndrome / classification
  • Hypereosinophilic Syndrome / diagnosis
  • Hypereosinophilic Syndrome / drug therapy
  • Hypereosinophilic Syndrome / genetics*
  • Imatinib Mesylate
  • Oncogene Proteins, Fusion
  • Piperazines / therapeutic use
  • Prognosis
  • Protein-Tyrosine Kinases / genetics*
  • Pyrimidines / therapeutic use
  • Receptor, Platelet-Derived Growth Factor alpha / genetics*
  • T-Lymphocytes / immunology
  • mRNA Cleavage and Polyadenylation Factors / genetics*

Substances

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