title: Epidermal growth factor receptor exon 20 p.S768I mutation in non-small cell lung carcinoma: A case report combined with a review of the literature and investigation of clinical significance.
abstract: 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 activatingEGFRmutations 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 ofEGFRexon 20 mutations, clinical information concerning the association betweenEGFRexon 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 theEGFRgene [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 rareEGFRsomatic mutation is also reviewed.
authors: Laboratory of Clinical Research and Advanced Diagnostics, Cancer Referral Centre of Basilicata, National Institute for Research and Treatment, Rionero in Vulture, Potenza I-85028, Italy.
authors: Giuseppina
authors: G
authors: Improta
authors: Pathology Unit, Cannizzaro Hospital, Catania I-95126, Italy.
authors: Angela
authors: A
authors: Pettinato
authors: Laboratory of Oncologic Technologies, Institute of Bioimaging and Molecular Physiology, National Research Council, Cefalù, Palermo I-90015, Italy.
authors: Stefania
authors: S
authors: Gieri
authors: Oncology Unit, Cannizzaro Hospital, Catania I-95126, Italy.
authors: Giuseppa
authors: G
authors: Scandurra
authors: Molecular Unit, Pathology Department, Herlev Hospital, Herlev 2730, Denmark.
authors: Wojciech
authors: W
authors: Skovrider-Ruminski
authors: Molecular Unit, Pathology Department, Herlev Hospital, Herlev 2730, Denmark.
authors: Estrid
authors: E
authors: Høgdall
authors: Pathology Unit, Cannizzaro Hospital, Catania I-95126, Italy.
authors: Filippo
authors: F
authors: Fraggetta
keywords: epidermal growth factor receptor; gefitinib; lung adenocarcinoma; p.S768I mutation; tyrosine kinase inhibitors