Results of the first italian external quality assurance scheme for somatic EGFR mutation testing in non-small-cell lung cancer

Nicola Normanno, Carmine Pinto, Gianluigi Taddei, Marcello Gambacorta, Francesca Castiglione, Massimo Barberis, Claudio Clemente, Antonio Marchetti

Research output: Contribution to journalArticlepeer-review


Introduction: The Italian Association of Medical Oncology (AIOM) and the Italian Society of Pathology and Cytology organized an external quality assessment (EQA) scheme for EGFR mutation testing in non-small-cell lung cancer. Methods: Ten specimens, including three small biopsies with known epidermal growth factor receptor (EGFR) mutation status, were validated in three referral laboratories and provided to 47 participating centers. The participants were requested to perform mutational analysis, using their usual method, and to submit results within a 4-week time frame. According to a predefined scoring system, two points were assigned to correct genotype and zero points to false-negative or false-positive results. The threshold to pass the EQA was set at higher than 18 of 20 points. Two rounds were preplanned. Results: All participating centers submitted the results within the time frame. Polymerase chain reaction (PCR)/sequencing was the main methodology used (n = 37 laboratories), although a few centers did use pyrosequencing (n = 8) or real-time PCR (n = 2). A significant number of analytical errors were observed (n = 20), with a high frequency of false-positive results (n = 16). The lower scores were obtained for the small biopsies. Fourteen of 47 centers (30%) that did not pass the first round, having a score less than or equal to 18 points, used PCR/sequencing, whereas 10 of 10 laboratories, using pyrosequencing or real-time PCR, passed the first round. Eight laboratories passed the second round. Overall, 41of 47 centers (87%) passed the EQA. Conclusion: The results of the EQA for EGFR testing in non-smallcell lung cancer suggest that good quality EGFR mutational analysis is performed in Italian laboratories, although differences between testing methods were observed, especially for small biopsies.

Original languageEnglish
Pages (from-to)773-778
Number of pages6
JournalJournal of Thoracic Oncology
Issue number6
Publication statusPublished - Jun 2013


  • EGFR mutations
  • Non-small-cell lung carcinoma
  • Quality assessment

ASJC Scopus subject areas

  • Oncology
  • Pulmonary and Respiratory Medicine


Dive into the research topics of 'Results of the first italian external quality assurance scheme for somatic EGFR mutation testing in non-small-cell lung cancer'. Together they form a unique fingerprint.

Cite this