title: EGFR mutant allelic-specific imbalance assessment in routine samples of non-small cell lung cancer.
abstract: 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.
authors.affiliation: Department of Public Health, University of Naples Federico II, Naples, Italy.
authors.forename: Umberto
authors.initials: U
authors.lastname: Malapelle
authors.affiliation: Department of Oncology, University of Turin at San Luigi Hospital, Turin, Italy.
authors.forename: Simona
authors.initials: S
authors.lastname: Vatrano
authors.affiliation: Department of Public Health, University of Naples Federico II, Naples, Italy.
authors.forename: Stefania
authors.initials: S
authors.lastname: Russo
authors.affiliation: Department of Public Health, University of Naples Federico II, Naples, Italy.
authors.forename: Claudio
authors.identifier: http://orcid.org/0000-0002-7479-6457
authors.initials: C
authors.lastname: Bellevicine
authors.affiliation: Department of Public Health, University of Naples Federico II, Naples, Italy.
authors.forename: Caterina
authors.initials: C
authors.lastname: de Luca
authors.affiliation: Department of Public Health, University of Naples Federico II, Naples, Italy.
authors.forename: Roberta
authors.initials: R
authors.lastname: Sgariglia
authors.affiliation: Department of Oncology, Azienda Ospedaliera dei Colli, Naples, Italy.
authors.forename: Danilo
authors.initials: D
authors.lastname: Rocco
authors.affiliation: Department of Oncology, Azienda Ospedaliera dei Colli, Naples, Italy.
authors.forename: Livia
authors.initials: L
authors.lastname: de Pietro
authors.affiliation: Department of Oncology, Antonio Cardarelli-Azienda Ospedaliera di Rilievo Nazionale, Naples, Italy.
authors.forename: Fernando
authors.initials: F
authors.lastname: Riccardi
authors.affiliation: Department of Oncology, University of Turin at San Luigi Hospital, Turin, Italy.
authors.forename: Elisa
authors.initials: E
authors.lastname: Gobbini
authors.affiliation: Department of Oncology, University of Turin at San Luigi Hospital, Turin, Italy.
authors.forename: Luisella
authors.initials: L
authors.lastname: Righi
authors.affiliation: Department of Public Health, University of Naples Federico II, Naples, Italy.
authors.forename: Giancarlo
authors.initials: G
authors.lastname: Troncone
mesh_terms: D000368:Aged; D000483:Alleles; D002289:Carcinoma, Non-Small-Cell Lung / Q000235:genetics* / Q000401:mortality; D004252:DNA Mutational Analysis; D018572:Disease-Free Survival; D005260:Female; D018628:Gene Dosage; D018773:Genes, erbB-1 / Q000235:genetics*; D006801:Humans; D061346:Laser Capture Microdissection; D008175:Lung Neoplasms / Q000235:genetics* / Q000401:mortality; D008297:Male; D008875:Middle Aged; D009154:Mutation; D020411:Oligonucleotide Array Sequence Analysis
keywords: EGFR; MOLECULAR PATHOLOGY; TUMOUR MARKERS