title: Validation of a new three-color fluorescence in situ hybridization (FISH) method to detect CHIC2 deletion, FIP1L1/PDGFRA fusion and PDGFRA translocations.
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.
authors.affiliation: Division of Laboratory Genetics, Mayo Clinic, Rochester, MN 55905, USA.
authors.forename: Stephanie R
authors.initials: SR
authors.lastname: Fink
authors.forename: Kimberly J
authors.initials: KJ
authors.lastname: Belongie
authors.forename: Sarah F
authors.initials: SF
authors.lastname: Paternoster
authors.forename: Stephanie A
authors.initials: SA
authors.lastname: Smoley
authors.forename: Animesh D
authors.initials: AD
authors.lastname: Pardanani
authors.forename: Ayalew
authors.initials: A
authors.lastname: Tefferi
authors.forename: Daniel L
authors.initials: DL
authors.lastname: Van Dyke
authors.forename: Rhett P
authors.initials: RP
authors.lastname: Ketterling
mesh_terms: D004268:DNA-Binding Proteins / Q000235:genetics*; D017353:Gene Deletion; D050939:Gene Fusion; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods / Q000592:standards*; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D020796:Receptor, Platelet-Derived Growth Factor alpha / Q000235:genetics*; D012680:Sensitivity and Specificity; D014157:Transcription Factors / Q000235:genetics*; D014178:Translocation, Genetic; D039221:mRNA Cleavage and Polyadenylation Factors / Q000235:genetics*
chemical_list: C121401:CHIC2 protein, human; D004268:DNA-Binding Proteins; D015514:Oncogene Proteins, Fusion; D014157:Transcription Factors; D039221:mRNA Cleavage and Polyadenylation Factors; C479819:FIP1L1-PDGFRA fusion protein, human; D020796:Receptor, Platelet-Derived Growth Factor alpha