TY - JOUR
T1 - Epidermal growth factor receptor exon 20 p.S768i mutation in non-small cell lung carcinoma
T2 - A case report combined with a review of the literature and investigation of clinical significance
AU - Improta, Giuseppina
AU - Pettinato, Angela
AU - Gieri, Stefania
AU - Scandurra, Giuseppa
AU - Skovrider-Ruminski, Wojciech
AU - Høgdall, Estrid
AU - Fraggetta, Filippo
PY - 2016
Y1 - 2016
N2 - Epidermal growth factor receptor (EGFR) plays a significant role in non-small cell lung cancer (NSCLC), the most prevalent form of lung cancer worldwide. Therefore, EGFR may be a useful molecular target for personalized therapy utilizing tyrosine kinase inhibitors (TKIs). Somatic activating EGFR mutations may be used to identify tumors sensitive to the effects of small-molecule EGFR-TKIs (gefitinib and erlotinib), and alternative, less frequently observed mutations, including the majority of mutations identified within exon 20, may be associated with a lack of response to TKIs. However, due to the comparative rarity of EGFR exon 20 mutations, clinical information concerning the association between EGFR exon 20 mutations and responsiveness to TKIs has been limited within the relevant literature, particularly for certain rare mutations, including p.S768I. The current study reports the case of a patient with NSCLC harboring a p.S768I mutation in the EGFR gene [a substitution at codon 768 of exon 20 (c.2303G>T, p.S768I)], as well as a mutation at codon 719, exon 18 (p.G719A). The relevant literature concerning this rare EGFR somatic mutation is also reviewed.
AB - Epidermal growth factor receptor (EGFR) plays a significant role in non-small cell lung cancer (NSCLC), the most prevalent form of lung cancer worldwide. Therefore, EGFR may be a useful molecular target for personalized therapy utilizing tyrosine kinase inhibitors (TKIs). Somatic activating EGFR mutations may be used to identify tumors sensitive to the effects of small-molecule EGFR-TKIs (gefitinib and erlotinib), and alternative, less frequently observed mutations, including the majority of mutations identified within exon 20, may be associated with a lack of response to TKIs. However, due to the comparative rarity of EGFR exon 20 mutations, clinical information concerning the association between EGFR exon 20 mutations and responsiveness to TKIs has been limited within the relevant literature, particularly for certain rare mutations, including p.S768I. The current study reports the case of a patient with NSCLC harboring a p.S768I mutation in the EGFR gene [a substitution at codon 768 of exon 20 (c.2303G>T, p.S768I)], as well as a mutation at codon 719, exon 18 (p.G719A). The relevant literature concerning this rare EGFR somatic mutation is also reviewed.
KW - Epidermal growth factor receptor
KW - Gefitinib
KW - Lung adenocarcinoma
KW - P.S768I mutation
KW - Tyrosine kinase inhibitors
U2 - 10.3892/ol.2015.3863
DO - 10.3892/ol.2015.3863
M3 - Journal article
C2 - 26870223
AN - SCOPUS:84948823276
SN - 1792-1074
VL - 11
SP - 393
EP - 398
JO - Oncology Letters
JF - Oncology Letters
IS - 1
ER -
