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EGFR mutant allelic-specific imbalance assessment in routine samples of non-small cell lung cancer
  1. Umberto Malapelle1,
  2. Simona Vatrano2,
  3. Stefania Russo1,
  4. Claudio Bellevicine1,
  5. Caterina de Luca1,
  6. Roberta Sgariglia1,
  7. Danilo Rocco3,
  8. Livia de Pietro3,
  9. Fernando Riccardi4,
  10. Elisa Gobbini2,
  11. Luisella Righi2,
  12. Giancarlo Troncone1
  1. 1Department of Public Health, University of Naples Federico II, Naples, Italy
  2. 2Department of Oncology, University of Turin at San Luigi Hospital, Turin, Italy
  3. 3Department of Oncology, Azienda Ospedaliera dei Colli, Naples, Italy
  4. 4Department of Oncology, Antonio Cardarelli—Azienda Ospedaliera di Rilievo Nazionale, Naples, Italy
  1. Correspondence to Professor Giancarlo Troncone, Department of Public Health, University of Naples Federico II, via Sergio Pansini 5, I-80131, Naples, Italy; giancarlo.troncone{at}


In non-small cell lung cancer (NSCLC), the epidermal growth factor receptor (EGFR) gene may undergo both mutations and copy number gains. EGFR mutant allele-specific imbalance (MASI) occurs when the ratio of mutant-to-wild-type alleles increases significantly. In this study, by using a previously validated microfluidic-chip-based technology, EGFR-MASI occurred in 25/67 mutant cases (37%), being more frequently associated with EGFR exon 19 deletions (p=0.033). In a subset of 49 treated patients, we assessed whether MASI is a modifier of anti-EGFR treatment benefit. The difference in progression-free survival and overall survival between EGFR-MASI-positive and EGFR-MASI-negative groups of patients did not show a statistical significance. In conclusion, EGFR-MASI is a significant event in NSCLC, specifically associated with EGFR exon 19 deletions. However, EGFR-MASI does not seem to play a role in predicting the response to first-generation EGFR small molecules inhibitors.

  • EGFR

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