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IDH1 mutation analysis in low cellularity specimen: A limitation of diagnostic accuracy and a proposal for the diagnostic procedure

 Junjeong Choi  ;  Eun Young Lee  ;  Kyung-Jin Shin  ;  Yang-Ki Minn  ;  Jieun Kim  ;  Se Hoon Kim 
 Pathology Research and Practice, Vol.209(5) : 284-290, 2013 
Journal Title
 Pathology Research and Practice 
Issue Date
Recently, new techniques for detecting IDH1 mutations have been developed. Most studies assessed the mutation status in glioma tissue without consideration of the size of the samples. We assessed the mutation status of IDH1 in simulated small biopsied tissue from 5 low grade gliomas, prepared by grid cutting procedure with direct sequencing, IDH1 immunohistochemistry (IHC), multiplex PCR with single base extension (SBE) assay and PNA-clamping method, and then analyzed the agreement between the methods. Kappa values were 0.53 (direct sequencing), 0.59 (multiplex PCR with SBE assay), and 0.69 (PNA-clamping method). Discrepant results between the methods were observed in lower cellularity samples. Twelve out of 25 cases were classified as wild type by direct sequencing, even with IDH1 IHC-positive cells, whereas 6, 8, and 11 of IHC-negative cases were classified as mutant cases by other 3 methods. In conclusion, newly developed sensitive methods, such as the PNA-clamping method and multiplex PCR with SBE assay, are practically useful in addition to the conventional IDH1 IHC in small biopsied samples.
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1. Journal Papers (연구논문) > 1. College of Medicine (의과대학) > Dept. of Forensic Medicine (법의학과)
1. Journal Papers (연구논문) > 1. College of Medicine (의과대학) > Dept. of Pathology (병리학교실)
1. Journal Papers (연구논문) > 1. College of Medicine (의과대학) > Dept. of Medical Law and Bioethics (의료법윤리학과)
Yonsei Authors
김세훈(Kim, Se Hoon) ORCID logo https://orcid.org/0000-0001-7516-7372
신경진(Shin, Kyoung Jin) ORCID logo https://orcid.org/0000-0002-1059-9665
이은영(Lee, Eun Young)
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