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A cautionary lesson on the use of targeted methods for EGFR mutation analysis: a case report
  1. K Walsh1,
  2. W A Wallace2,
  3. R Butler3,
  4. M J Mackean4,
  5. D J Harrison2,
  6. D Stirling5,
  7. A Oniscu1
  1. 1Department of Molecular Pathology, NHS Lothian, Edinburgh, UK
  2. 2Department of Pathology, NHS Lothian, Edinburgh, UK
  3. 3Department of Molecular Genetics, Institute of Medical Genetics, Cardiff, UK
  4. 4Department of Clinical Oncology, NHS Lothian, Edinburgh, UK
  5. 5Department of Haematology, NHS Lothan, Edinburgh, UK
  1. Correspondence to Kathy Walsh, Molecular Pathology, Department of Laboratory Medicine, Royal Infirmary of Edinburgh, Little France Crescent, Old Dalkeith Road, Edinburgh EH16 4SA, UK; kathy.walsh{at}


Epidermal growth factor receptor (EGFR) mutation analysis is recommended for lung cancer patients prior to the prescription of first-line EGFR tyrosine kinase inhibitors in order to predict response to treatment. There are many methods available to identify mutations in the EGFR gene; a large number of clinical laboratories use the therascreen EGFR RGQ PCR kit (Qiagen). We report a case where this kit detected an exon 19 deletion, predicting sensitivity to tyrosine kinase inhibitors (TKIs), which on further analysis was found to be a 2 bp indel (c.2239_2240delinsCC, p.(Leu747Pro)). Two of four published cases with this mutation were found to be associated with resistance to EGFR TKI. The sample was also tested using two other commercial kits, one of which indicated a deletion. This is a rare mutation making the erroneous detection of a deletion unlikely; however, it is important that clinical laboratories are aware of the potential failings of two commercial kits for EGFR mutation analysis.

  • Egfr
  • Lung Cancer
  • Molecular Pathology

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