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IDH Mutation Analysis in Glioma Patients by CADMA Compared with SNaPshot Assay and two Immunohistochemical Methods
I. Urbanovska, MH. Megova, Z. Dwight, O. Kalita, M. Uvirova, J. Simova, L. Tuckova, P. Buzrla, T. Palecek, M. Hajduch, J. Dvorackova, J. Drabek,
Jazyk angličtina Země Nizozemsko
Typ dokumentu časopisecké články
Grantová podpora
LO 1304
Ministerstvo Školství, Mládeže a Tělovýchovy
LM 2015089
Ministerstvo Školství, Mládeže a Tělovýchovy
NT 13581
Ministerstvo Školství, Mládeže a Tělovýchovy
NV 16-32198A
Ministerstvo Zdravotnictví Ceské Republiky
NV16-32198A
MZ0
CEP - Centrální evidence projektů
Digitální knihovna NLK
Plný text - Článek
NLK
ProQuest Central
od 1997-03-01 do 2019-01-31
Medline Complete (EBSCOhost)
od 2014-01-01
Nursing & Allied Health Database (ProQuest)
od 1997-03-01 do 2019-01-31
Health & Medicine (ProQuest)
od 1997-03-01 do 2019-01-31
ROAD: Directory of Open Access Scholarly Resources
od 1995
- MeSH
- glioblastom genetika MeSH
- gliom genetika MeSH
- imunohistochemie metody MeSH
- isocitrátdehydrogenasa genetika MeSH
- lidé MeSH
- mutace genetika MeSH
- mutační analýza DNA metody MeSH
- nádorové biomarkery genetika MeSH
- nádory mozku genetika MeSH
- senzitivita a specificita MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
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.
CGB Laboratory Inc Ostrava Czech Republic
Department of Neurosurgery University Hospital Olomouc Olomouc Czech Republic
Department of Pathology University of Utah Salt Lake City UT USA
Neurosurgery Clinic University Hospital Ostrava Ostrava Czech Republic
Citace poskytuje Crossref.org
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