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 mutant allelic-specific imbalance assessment in routine samples of non-small cell lung cancer

VATRANO, SIMONA;GOBBINI, Elisa;RIGHI, Luisella;
2015-01-01

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.
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http://jcp.bmj.com/content/68/9/739.full.pdf+html
EGFR; MOLECULAR PATHOLOGY; TUMOUR MARKERS; Aged; Alleles; Carcinoma, Non-Small-Cell Lung; DNA Mutational Analysis; Disease-Free Survival; Female; Gene Dosage; Genes, erbB-1; Humans; Laser Capture Microdissection; Lung Neoplasms; Male; Middle Aged; Mutation; Oligonucleotide Array Sequence Analysis; 2734; Medicine (all)
Umberto Malapelle, ; Simona Vatrano, ; Stefania Russo, ; Claudio Bellevicine, ; Caterina de Luca, ; Roberta Sgariglia, ; Danilo Rocco, ; Livia de Pietro, ; Fernando Riccardi, ; Elisa Gobbini, ; Luisella Righi, ; Troncone, Giancarlo
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2318/1532805
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