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Robust detection of EGFR copy number changes and EGFR variant III: technical aspects and relevance for glioma diagnostics.

Publication ,  Journal Article
Jeuken, J; Sijben, A; Alenda, C; Rijntjes, J; Dekkers, M; Boots-Sprenger, S; McLendon, R; Wesseling, P
Published in: Brain Pathol
October 2009

Epidermal growth factor receptor (EGFR) is commonly affected in cancer, generally in the form of an increase in DNA copy number and/or as mutation variants [e.g., EGFR variant III (EGFRvIII), an in-frame deletion of exons 2-7]. While detection of EGFR aberrations can be expected to be relevant for glioma patients, such analysis has not yet been implemented in a routine setting, also because feasible and robust assays were lacking. We evaluated multiplex ligation-dependent probe amplification (MLPA) for detection of EGFR amplification and EGFRvIII in DNA of a spectrum of 216 diffuse gliomas. EGFRvIII detection was verified at the protein level by immunohistochemistry and at the RNA level using the conventionally used endpoint RT-PCR as well as a newly developed quantitative RT-PCR. Compared to these techniques, the DNA-based MLPA assay for EGFR/EGFRvIII analysis tested showed 100% sensitivity and specificity. We conclude that MLPA is a robust assay for detection of EGFR/EGFRvIII aberrations. While the exact diagnostic, prognostic and predictive value of such EGFR testing remains to be seen, MLPA has great potential as it can reliably and relatively easily be performed on routinely processed (formalin-fixed, paraffin-embedded) tumor tissue in combination with testing for other relevant glioma markers.

Duke Scholars

Published In

Brain Pathol

DOI

EISSN

1750-3639

Publication Date

October 2009

Volume

19

Issue

4

Start / End Page

661 / 671

Location

Switzerland

Related Subject Headings

  • Sensitivity and Specificity
  • Reverse Transcriptase Polymerase Chain Reaction
  • Reproducibility of Results
  • Predictive Value of Tests
  • Neurology & Neurosurgery
  • Mutation
  • Molecular Diagnostic Techniques
  • Immunohistochemistry
  • Humans
  • Glioma
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Jeuken, J., Sijben, A., Alenda, C., Rijntjes, J., Dekkers, M., Boots-Sprenger, S., … Wesseling, P. (2009). Robust detection of EGFR copy number changes and EGFR variant III: technical aspects and relevance for glioma diagnostics. Brain Pathol, 19(4), 661–671. https://doi.org/10.1111/j.1750-3639.2009.00320.x
Jeuken, Judith, Angelique Sijben, Cristina Alenda, Jos Rijntjes, Marieke Dekkers, Sandra Boots-Sprenger, Roger McLendon, and Pieter Wesseling. “Robust detection of EGFR copy number changes and EGFR variant III: technical aspects and relevance for glioma diagnostics.Brain Pathol 19, no. 4 (October 2009): 661–71. https://doi.org/10.1111/j.1750-3639.2009.00320.x.
Jeuken J, Sijben A, Alenda C, Rijntjes J, Dekkers M, Boots-Sprenger S, et al. Robust detection of EGFR copy number changes and EGFR variant III: technical aspects and relevance for glioma diagnostics. Brain Pathol. 2009 Oct;19(4):661–71.
Jeuken, Judith, et al. “Robust detection of EGFR copy number changes and EGFR variant III: technical aspects and relevance for glioma diagnostics.Brain Pathol, vol. 19, no. 4, Oct. 2009, pp. 661–71. Pubmed, doi:10.1111/j.1750-3639.2009.00320.x.
Jeuken J, Sijben A, Alenda C, Rijntjes J, Dekkers M, Boots-Sprenger S, McLendon R, Wesseling P. Robust detection of EGFR copy number changes and EGFR variant III: technical aspects and relevance for glioma diagnostics. Brain Pathol. 2009 Oct;19(4):661–671.
Journal cover image

Published In

Brain Pathol

DOI

EISSN

1750-3639

Publication Date

October 2009

Volume

19

Issue

4

Start / End Page

661 / 671

Location

Switzerland

Related Subject Headings

  • Sensitivity and Specificity
  • Reverse Transcriptase Polymerase Chain Reaction
  • Reproducibility of Results
  • Predictive Value of Tests
  • Neurology & Neurosurgery
  • Mutation
  • Molecular Diagnostic Techniques
  • Immunohistochemistry
  • Humans
  • Glioma