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

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)284-290
Number of pages7
JournalPathology Research and Practice
Volume209
Issue number5
DOIs
Publication statusPublished - 2013 May 1

Fingerprint

Mutation
Multiplex Polymerase Chain Reaction
Immunohistochemistry
Constriction
Glioma
Sample Size

All Science Journal Classification (ASJC) codes

  • Pathology and Forensic Medicine
  • Cell Biology

Cite this

@article{3e5d280a2d804549a7383a00292ed810,
title = "IDH1 mutation analysis in low cellularity specimen: A limitation of diagnostic accuracy and a proposal for the diagnostic procedure",
abstract = "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.",
author = "Junjeong Choi and Lee, {Eun Young} and Shin, {Kyung Jin} and Minn, {Yang Ki} and Jieun Kim and Kim, {Se Hoon}",
year = "2013",
month = "5",
day = "1",
doi = "10.1016/j.prp.2013.02.010",
language = "English",
volume = "209",
pages = "284--290",
journal = "Pathology Research and Practice",
issn = "0344-0338",
publisher = "Urban und Fischer Verlag GmbH und Co. KG",
number = "5",

}

IDH1 mutation analysis in low cellularity specimen : A limitation of diagnostic accuracy and a proposal for the diagnostic procedure. / Choi, Junjeong; Lee, Eun Young; Shin, Kyung Jin; Minn, Yang Ki; Kim, Jieun; Kim, Se Hoon.

In: Pathology Research and Practice, Vol. 209, No. 5, 01.05.2013, p. 284-290.

Research output: Contribution to journalArticle

TY - JOUR

T1 - IDH1 mutation analysis in low cellularity specimen

T2 - A limitation of diagnostic accuracy and a proposal for the diagnostic procedure

AU - Choi, Junjeong

AU - Lee, Eun Young

AU - Shin, Kyung Jin

AU - Minn, Yang Ki

AU - Kim, Jieun

AU - Kim, Se Hoon

PY - 2013/5/1

Y1 - 2013/5/1

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=84878451058&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84878451058&partnerID=8YFLogxK

U2 - 10.1016/j.prp.2013.02.010

DO - 10.1016/j.prp.2013.02.010

M3 - Article

C2 - 23561624

AN - SCOPUS:84878451058

VL - 209

SP - 284

EP - 290

JO - Pathology Research and Practice

JF - Pathology Research and Practice

SN - 0344-0338

IS - 5

ER -