Validation of a new three-color fluorescence in situ hybridization (FISH) method to detect CHIC2 deletion, FIP1L1/PDGFRA fusion and PDGFRA translocations.
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.
Fink
Stephanie R
SR
Division of Laboratory Genetics, Mayo Clinic, Rochester, MN 55905, USA.
Belongie
Kimberly J
KJ
Paternoster
Sarah F
SF
Smoley
Stephanie A
SA
Pardanani
Animesh D
AD
Tefferi
Ayalew
A
Van Dyke
Daniel L
DL
Ketterling
Rhett P
RP
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*
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