外显子
表皮生长因子受体
医学
突变
肺癌
癌症研究
遗传学
癌症
生物信息学
基因
生物
肿瘤科
内科学
作者
Jonathan Q. Trinh,Omar Abughanimeh
标识
DOI:10.1016/j.currproblcancer.2024.101064
摘要
Epidermal growth factor receptor (EGFR) mutations are frequently implicated in non-small cell lung cancer (NSCLC). Though these typically involve exon 19 in-frame deletions or L858R mutations in exon 21, uncommon EGFR mutations comprise 10-15 % of all EGFR mutations. These most frequently include G719X mutations in exon 18, L861Q mutations in exon 21, S768I mutations in exon 20, and in-frame insertions and/or duplications in exon 20. It is crucial to understand these distinct variants and their specific responses to active treatment options to optimize care. In this review, we discuss these uncommon mutations in depth and dissect the current literature regarding their treatment outcomes and subsequent evidence-based management guidelines.
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