Validation of a new three-color fluorescence in situ hybridization (FISH) method to detect CHIC2

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• 作者：Stephanie R. Fink ; Kimberly J. Belongie ; Sarah F. Paternoster ; Stephanie A. Smoley ; Animesh D. Pardanani ; Ayalew Tefferi ; Daniel L. Van Dyke ; Rhett P. Ketterling
• 关键词：CHIC2 ; FIP1L1/PDGFRA fusion ; FISH ; Myeloproliferative neoplasm
• 刊名：Leukemia Research
• 出版年：2009
• 出版时间：June 2009
• 年：2009
• 卷：33
• 期：6
• 页码：843-846
• 全文大小：732 K

文摘

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.