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

被引：9

作者：

Choi, Junjeong ^{[1
,2
]}

Lee, Eun Young ^{[3
]}

Shin, Kyung-Jin ^{[3
]}

Minn, Yang-Ki ^{[4
]}

Kim, Jieun ^{[5
]}

Kim, Se Hoon ^{[6
]}

机构：

[1] Yonsei Univ, Dept Pathol, Wonju Coll Med, Wonju, South Korea

[2] Yonsei Univ, Brain Korea Project Med Sci 21, Seoul 120752, South Korea

[3] Yonsei Univ, Coll Med, Dept Forens Med, Seoul 120752, South Korea

[4] Hallym Univ, Dept Neurol, Coll Med, Chunchon, South Korea

[5] Yonsei Univ, Coll Med, Biostat Collaborat Unit, Seoul 120752, South Korea

[6] Yonsei Univ, Coll Med, Dept Pathol, Seoul 120752, South Korea

来源：

PATHOLOGY RESEARCH AND PRACTICE | 2013年 / 209卷 / 05期

基金：

新加坡国家研究基金会;

关键词：

Isocitrate dehydrogenase (IDH) 1 mutation; Gliomas; Direct sequencing; Immunohistochemistry; Multiplex PCR with single base extension; Peptide nucleic acid-clamping; STEREOTACTIC BIOPSY; BRAIN-TUMORS; GLIOMAS; PCR; IMMUNOHISTOCHEMISTRY; GLIOBLASTOMA; TESTS;

D O I：

10.1016/j.prp.2013.02.010

中图分类号：

R36 [病理学];

学科分类号：

100103 [病原生物学];

摘要：

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. (C) 2013 Elsevier GmbH. All rights reserved.

引用

页码：284 / 290

页数：7

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