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 / Malapelle, Umberto; Vatrano, Simona; Russo, Stefania; Bellevicine, Claudio; DE LUCA, Caterina; Sgariglia, Roberta; Rocco, Danilo; de Pietro, Livia; Riccardi, Fernando; Gobbini, Elisa; Righi, Luisella; Troncone, Giancarlo. - In: JOURNAL OF CLINICAL PATHOLOGY. - ISSN 0021-9746. - 68:9(2015), pp. 739-41-741. [10.1136/jclinpath-2015-203101]

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

MALAPELLE, UMBERTO;BELLEVICINE, CLAUDIO;DE LUCA, CATERINA;SGARIGLIA, ROBERTA;TRONCONE, GIANCARLO
2015

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.
2015
EGFR mutant allelic-specific imbalance assessment in routine samples of non-small cell lung cancer / Malapelle, Umberto; Vatrano, Simona; Russo, Stefania; Bellevicine, Claudio; DE LUCA, Caterina; Sgariglia, Roberta; Rocco, Danilo; de Pietro, Livia; Riccardi, Fernando; Gobbini, Elisa; Righi, Luisella; Troncone, Giancarlo. - In: JOURNAL OF CLINICAL PATHOLOGY. - ISSN 0021-9746. - 68:9(2015), pp. 739-41-741. [10.1136/jclinpath-2015-203101]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11588/615108
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