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非小细胞肺癌中表皮生长因子受体第20外显子p.S768I突变:一例报告并文献复习及临床意义探讨

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.

作者信息

Improta Giuseppina, Pettinato Angela, Gieri Stefania, Scandurra Giuseppa, Skovrider-Ruminski Wojciech, Høgdall Estrid, Fraggetta Filippo

机构信息

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.

Pathology Unit, Cannizzaro Hospital, Catania I-95126, Italy.

出版信息

Oncol Lett. 2016 Jan;11(1):393-398. doi: 10.3892/ol.2015.3863. Epub 2015 Nov 5.

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 activating 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 exon 20 mutations, clinical information concerning the association between 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 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 somatic mutation is also reviewed.

摘要

表皮生长因子受体(EGFR)在非小细胞肺癌(NSCLC)中发挥着重要作用,NSCLC是全球最常见的肺癌形式。因此,EGFR可能是利用酪氨酸激酶抑制剂(TKIs)进行个性化治疗的有用分子靶点。体细胞激活突变可用于识别对小分子EGFR-TKIs(吉非替尼和厄洛替尼)敏感的肿瘤,而其他较少见的突变,包括在第20外显子中发现的大多数突变,可能与对TKIs无反应有关。然而,由于第20外显子突变相对罕见,相关文献中关于第20外显子突变与TKIs反应性之间关联的临床信息有限,特别是对于某些罕见突变,如p.S768I。本研究报告了1例非小细胞肺癌患者的病例,该患者基因中存在p.S768I突变[第20外显子密码子768处的替换(c.2303G>T,p.S768I)],以及第18外显子密码子719处的突变(p.G719A)。同时还对有关这种罕见体细胞突变的相关文献进行了综述。

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本文引用的文献

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