Karachaliou Niki, Molina-Vila Miguel Angel, Rosell Rafael
Instituto Oncológico Dr Rosell, Quiron-Dexeus University Hospital, Barcelona, Spain.
Expert Rev Respir Med. 2015 Jun;9(3):241-4. doi: 10.1586/17476348.2015.1046439. Epub 2015 May 20.
Mutational activation of the epidermal growth factor receptor (EGFR) gene is implicated in lung cancer; clinical and cancer genome sequencing studies have identified hundreds of mutations in the protein kinase domain. EGFR mutation testing usually focuses on common mutations like the exon 19 deletion and exon 21 point mutation (L858R). However, molecular screening methods have started to extend beyond identification of classic EGFR mutations to prevent exclusion of patients with rare or complex mutations who may benefit from anti-EGFR therapy. Rare EGFR-mutated non-small-cell lung cancers are heterogeneous: exon 20 insertions lack sensitivity to tyrosine kinase inhibitors while exon 18 or complex mutations are more sensitive and require individual assessment. Until testing for uncommon EGFR mutations evolves and studies with large number of patients are performed, knowledge of this field will remain limited.
表皮生长因子受体(EGFR)基因的突变激活与肺癌有关;临床和癌症基因组测序研究已在蛋白激酶结构域中鉴定出数百种突变。EGFR突变检测通常集中在常见突变上,如外显子19缺失和外显子21点突变(L858R)。然而,分子筛查方法已开始超越经典EGFR突变的鉴定,以防止排除可能从抗EGFR治疗中获益的罕见或复杂突变患者。罕见的EGFR突变非小细胞肺癌具有异质性:外显子20插入对酪氨酸激酶抑制剂缺乏敏感性,而外显子18或复杂突变更敏感,需要进行个体评估。在针对不常见EGFR突变的检测取得进展并开展大量患者研究之前,该领域的知识仍将有限。