Myeloid neoplasms associated with eosinophilia and rearrangement of PDGFRA, PDGFRB, and FGFR1: A review

N. Savage, T. I. George, J. Gotlib

Research output: Contribution to journalReview articlepeer-review

52 Scopus citations


Summary: Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of platelet-derived growth factor receptor alpha (PDGFRA), platelet-derived growth factor receptor beta (PDGFRB), and fibroblast growth factor receptor-1 (FGFR1) are a group of hematologic neoplasms resulting from the formation of abnormal fusion genes that encode constitutively activated tyrosine kinases. These entities are now separated into their own major category in the 2008 World Health Organization classification of hematolymphoid tumors. Although eosinophilia is characteristic of these diseases, the clinical presentation of the three entities is variable. Conventional cytogenetics (karyotyping) will detect the majority of abnormalities involving PDGFRB and FGFR1, but florescence in situ hybridization (FISH)/molecular studies are required to detect factor interacting with PAP (FIP1L1)-PDGFRA as the characteristic 4q12 interstitial deletion is cryptic. Imatinib mesylate (imatinib) is the first-line therapy for patients with abnormalities of PDGFRA/B, whereas patients with FGFR1 fusions are resistant to this therapy and carry a poor prognosis. The discovery of novel gene rearrangements associated with eosinophilia will further guide our understanding of the molecular pathobiology of these diseases and aid in the development of small-molecule inhibitors that inhibit deregulated hematopoiesis.

Original languageEnglish (US)
Pages (from-to)491-500
Number of pages10
JournalInternational Journal of Laboratory Hematology
Issue number5
StatePublished - Oct 1 2013


  • CHIC2
  • Eosinophilia
  • FGFR1

ASJC Scopus subject areas

  • Hematology
  • Clinical Biochemistry
  • Biochemistry, medical


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