Validation of a new three-color fluorescence in situ hybridization (FISH) method to detect CHIC2 deletion, FIP1L1/PDGFRA fusion and PDGFRA translocations

Leuk Res. 2009 Jun;33(6):843-6. doi: 10.1016/j.leukres.2008.11.016. Epub 2008 Dec 31.

Abstract

The PDGRFA locus has become a gene of interest based on mutational activation in various myeloid neoplasms and the availability of targeted therapies (i.e., imatinib mesylate) to its overexpression. We studied a new FISH method to detect CHIC2 deletion, FIP1L1/PDGFRA fusion and PDGFRA translocation in patients with myeloid neoplasms associated with eosinophilia. A total of 46 specimens were studied, including 15 from patients with a CHIC2 abnormality and six patients with an abnormality involving PDGFRA. Our results revealed this new FISH assay accurately detects these abnormalities and will be a useful clinical test for patients with myeloid neoplasms and eosinophilia.

Publication types

  • Validation Study

MeSH terms

  • DNA-Binding Proteins / genetics*
  • Gene Deletion*
  • Gene Fusion*
  • Humans
  • In Situ Hybridization, Fluorescence / methods
  • In Situ Hybridization, Fluorescence / standards*
  • Oncogene Proteins, Fusion / genetics*
  • Receptor, Platelet-Derived Growth Factor alpha / genetics*
  • Sensitivity and Specificity
  • Transcription Factors / genetics*
  • Translocation, Genetic*
  • mRNA Cleavage and Polyadenylation Factors / genetics*

Substances

  • CHIC2 protein, human
  • DNA-Binding Proteins
  • Oncogene Proteins, Fusion
  • Transcription Factors
  • mRNA Cleavage and Polyadenylation Factors
  • FIP1L1-PDGFRA fusion protein, human
  • Receptor, Platelet-Derived Growth Factor alpha