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Related Concept Videos

In vitro Mutagenesis01:16

In vitro Mutagenesis

To learn more about the function of a gene, researchers can observe what happens when the gene is inactivated or “knocked out,” by creating genetically engineered knockout animals. Knockout mice have been particularly useful as models for human diseases such as cancer, Parkinson’s disease, and diabetes.
In-vitro Mutagenesis01:16

In-vitro Mutagenesis

To learn more about the function of a gene, researchers can observe what happens when the gene is inactivated or “knocked out,” by creating genetically engineered knockout animals. Knockout mice have been particularly useful as models for human diseases such as cancer, Parkinson’s disease, and diabetes.

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Interlaboratory comparison of IDH mutation detection.

Martin J van den Bent1, C Hartmann, Matthias Preusser

  • 1Department of Neurology/Neuro-Oncology, Erasmus MC - Cancer Institute, Groene Hilledijk 301, 3075EA, Rotterdam, the Netherlands. m.vandenbent@erasmusmc.nl

Journal of Neuro-Oncology
|January 30, 2013
PubMed
Summary

Isocitrate dehydrogenase (IDH) mutational testing requires reliable assays. Immunohistochemistry for IDH1 R132H mutations showed high consistency across laboratories, while sequencing results varied, highlighting the need for quality assurance.

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Area of Science:

  • Neuropathology
  • Molecular Diagnostics
  • Oncology

Background:

  • Isocitrate dehydrogenase (IDH) mutational status is a critical biomarker in glioma classification and prognostication.
  • The increasing importance of IDH testing necessitates robust and reproducible diagnostic assays.

Purpose of the Study:

  • To evaluate the inter-laboratory variation in IDH mutational testing for gliomas.
  • To assess the reliability of immunohistochemistry (IHC) and sequencing methods for IDH mutation detection.

Main Methods:

  • Six laboratories tested 31 formalin-fixed paraffin-embedded (FFPE) glioma samples using their standard diagnostic protocols.
  • All laboratories initially employed IHC for the common IDH1 R132H mutation.
  • Subsequent sequencing strategies varied, with some labs sequencing only IHC-negative cases and others sequencing all cases.

Main Results:

  • Immunohistochemistry for IDH1 R132H mutations demonstrated complete agreement across all six laboratories, accurately identifying all R132H mutations.
  • Sequencing results showed inconsistencies in two laboratories.
  • Post-review and repeat testing resolved discrepancies in one laboratory, while the other showed only partial improvement.

Conclusions:

  • Immunohistochemistry for IDH1 R132H mutations is a highly reliable and consistent method across different laboratories.
  • IDH sequencing procedures can yield inconsistent results, emphasizing the need for stringent quality assurance.
  • Standardized quality assurance protocols are essential before incorporating IDH testing into routine clinical management of glioma patients.