IDH Mutation Analysis in Glioma Patients by CADMA Compared with SNaPshot Assay and two Immunohistochemical Methods

Pathology oncology research: POR

article

Urbanovska, Irena¹  Hajduch, Marian³  Dvorackova, Jana²  Drabek, Jiri³  Megova, Magdalena Houdova³  Dwight, Zachary⁵  Kalita, Ondrej⁶  Uvirova, Magdalena¹  Simova, Jarmila¹  Tuckova, Lucie⁷  Buzrla, Petr⁴  Palecek, Tomas⁸ 

[1] CGB Laboratory Inc.;Department of Biomedical Sciences, Faculty of Medicine, University of Ostrava;Institute of Molecular and Translational Medicine, Faculty of Medicine and Dentistry, Palacky University and University Hospital in Olomouc;Institute of Pathology, Faculty of Medicine and University Hospital, University of Ostrava;Department of Pathology, University of Utah;Department of Neurosurgery, University Hospital Olomouc;Department of Clinical and Molecular Pathology, Faculty of Medicine and Dentistry, Palacky University and University Hospital in Olomouc;Neurosurgery Clinic, University Hospital Ostrava

关键词: IDH1;    IDH2;    CADMA;    Glioma;    Mutation testing;   

DOI  :  10.1007/s12253-018-0413-9

来源: Springer

【 摘 要 】

Mutations in IDH1/2 genes are a marker of good prognosis for glioma patients, associated with low grade gliomas and secondary glioblastomas. Immunohistochemistry and Sanger sequencing are current standards for IDH1/2 genotyping while many other methods exist. The aim of this study was to validate Competitive amplification of differentially melting amplicons (CADMA) PCR for IDH genotyping by comparison with SNaPshot assay and two immunohistochemical methods. In our study, 87 glioma patients (46 from Olomouc and 41 from Ostrava) were analyzed. IDH1/2 mutations in native bioptical samples were analyzed at DNA level by CADMA and SNaPshot while IDH1 mutations in FFPE samples were analyzed at protein level by two IHC methods. CADMA PCR sensitivity for IDH1 was 96.4% and specificity 100% for 86 concluded samples. SNaPshot assay sensitivity was 92.9% and specificity of 100% for 85 concluded samples. IHC in the laboratory no. 2 reached sensitivity 85.7% and specificity 100% for 86 concluded samples. IHC in the laboratory no. 4 reached sensitivity of 96.4% and specificity of 79.7% in 74 concluded samples. Only one IDH2 mutation was found by SNaPshot while CADMA yielded false negative result. In conclusion, CADMA is a valid method for IDH1 p.(R132H) testing with higher sensitivity than SNaPshot assay. Also, molecular genetic methods of IDH1 testing from native samples were more robust than IHC from FFPE.

【 授权许可】

Unknown