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非小细胞肺癌表皮生长因子受体20号外显子插入突变检测临床实践中国专家共识（2024版）
中国抗癌协会肿瘤病理专业委员会分子病理协作组
中国医师协会肿瘤多学科诊疗专业委员会
作者及单位信息
·
DOI： 10.3760/cma.j.cn112152-20230905-00125
Expert consensus on clinical practice of EGFR exon20 insertion detection in non-small cell lung cancer in China (2024 edition)
Molecular Pathology Collaboration Group of Tumor Pathology Committee of Chinese Anti-Cancer Association
Oncology Multidisciplinary Medical Committee of Chinese Medical Doctor Association
Ying Jianming
Wang Jie
Authors Info & Affiliations
Molecular Pathology Collaboration Group of Tumor Pathology Committee of Chinese Anti-Cancer Association
Oncology Multidisciplinary Medical Committee of Chinese Medical Doctor Association
Ying Jianming
Department of Pathology, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100021, China
Wang Jie
Department of Medical Oncology, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100021, China
·
DOI： 10.3760/cma.j.cn112152-20230905-00125
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摘要

中国肺癌人群中约82%为非小细胞肺癌，表皮生长因子受体（EGFR）基因则是中国肺癌人群中最常见的驱动基因突变（51.7%～54.4%）。近年来靶向治疗特别是EGFR酪氨酸激酶抑制剂的快速发展及广泛应用显著提高了中国肺癌患者的生存时间及生存质量。EGFR基因20号外显子插入突变（EGFR ex20ins）在中国非小细胞肺癌患者中发生率约为0.3%～2.9%，居EGFR基因突变第3位，目前已有多个针对性靶向药物研发。然而EGFR ex20ins的变异类型众多，具有高度分子异质性，检测难度较高，临床检测需进一步规范。明确EGFR ex20ins检测临床意义、适用人群及不同检测方法优劣势，规范报告内容，对提高EGFR ex20ins检测准确性具有重要意义。针对EGFR ex20ins检测的实际问题，中国抗癌协会肿瘤病理专业委员会分子病理协作组和中国医师协会肿瘤多学科诊疗专业委员会结合国内外多中心研究及临床实践经验，组织专家讨论并制定了非小细胞肺癌EGFR ex20ins检测临床实践中国专家共识（2024版），以期指导临床EGFR ex20ins检测实践。

肺肿瘤;表皮生长因子受体基因20号外显子插入;基因检测;专家共识
ABSTRACT

About 82% of the Chinese lung cancer population is non-small cell lung cancer(NSCLC), and the epidermal growth factor receptor (EGFR) gene is the most common driver mutation in the Chinese lung cancer population (51.7%-54.4%). In recent years, the rapid development and wide application of targeted therapies, especially EGFR tyrosine kinase inhibitors, have significantly improved the survival time and quality of life of Chinese lung cancer patients. EGFR exon20 insertion (EGFR ex20ins) accounts for 0.3%-2.9% in NSCLC patients in China. Recently, several tyrosine kinase inhibitors have been approved for the therapy of EGFR ex20ins NSCLCs. The variety variants and high molecular heterogeneity of EGFR ex20ins NSCLCs asks for more accurate detection methods, and clinical routine detection process needs to be further standardized. On account to the practical questions of EGFR ex20ins detection, this consensus was finally reached based on the combination of literature, expert experience and internal discussion among committee members, in the hope of providing the guide for standardizing the EGFR ex20ins detection.

Lung neoplasms;EGFR exon20 insertion;Detection;Expert consensus
Ying Jianming, Department of Pathology, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100021, China, Email: nc.defcaab.smacicgniymj
Wang Jie, Department of Medical Oncology, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100021, China, Email: mocdef.3ab61ixuhlz

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引用本文

中国抗癌协会肿瘤病理专业委员会分子病理协作组,中国医师协会肿瘤多学科诊疗专业委员会. 非小细胞肺癌表皮生长因子受体20号外显子插入突变检测临床实践中国专家共识（2024版）[J]. 中华肿瘤杂志,2024,46(03)：179-188.

DOI:10.3760/cma.j.cn112152-20230905-00125

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非小细胞肺癌（non-small cell lung cancer，NSCLC）是最常见的肺癌类型，约占肺癌的82% ［ 1 ］ 。NSCLC靶向治疗的重大进展显著提高了客观缓解率（objective response rate，ORR）及生存质量，同时延长了患者的无进展生存时间（progression-free survival，PFS）。精细化NSCLC驱动基因分子分型是精准靶向治疗的基石。表皮生长因子受体（epidermal growth factor receptor，EGFR）基因突变是我国肺癌人群最常见的致癌驱动突变，约占51.7%～54.4% ［ 2 , 3 ］ ，远高于高加索人群（10%～16.6%） ［ 4 ］ 。EGFR 20号外显子插入突变（exon20 insertion mutation，ex20ins）发生率居EGFR基因突变第3位，仅次于19号外显子缺失突变（ex19del）和21号外显子L858R点突变（L858R） ［ 5 ］ 。
携带EGFR ex20ins NSCLC患者的临床特征与EGFR常见突变患者类似，多见于亚裔、不吸烟的女性肺腺癌患者 ［ 6 ］ 。与EGFR常见突变的患者比较，EGFR ex20ins患者整体预后较差，类似于EGFR野生型 ［ 7 ］ 。
EGFR ex20ins患者从传统化疗、第一代、第二代、第三代EGFR酪氨酸激酶抑制剂（tyrosine kinase inhibitor，TKI）和免疫治疗中的获益有限 ［ 8 ］ 。近期，如埃万妥单抗（Amivantamab，JNJ-6372）、莫博赛替尼（Mobocertinib，TAK-788）、舒沃替尼（Sunvozertinib，DZD9008）等多个针对EGFR ex20ins靶向治疗药物的研发对筛选EGFR ex20ins阳性患者提出了更高的要求。美国国立综合癌症网络（National Comprehensive Cancer Network，NCCN）指南 ［ 9 ］ 、欧洲肿瘤内科学会EGFR突变阳性NSCLC管理专家共识 ［ 10 ］ 及中国临床肿瘤学会非小细胞肺癌专家委员会《EGFR 20外显子插入突变非小细胞肺癌规范化诊疗中国专家共识（2023版）》 ［ 11 ］ 均明确指出，检测EGFR ex20ins有诊断和治疗意义。
EGFR ex20ins的变异类型众多，具有高度分子异质性，目前已报告检出200余种 ［ 12 , 13 , 14 ］ 。但不同临床研究中报告的EGFR ex20ins发生率差异较大。国外发表的系统综述提示，EGFR ex20ins患者占所有NSCLC人群的0.1%～4%，占EGFR突变患者的1%～12% ［ 15 ］ ；中国NSCLC人群中EGFR ex20ins患者占比约为0.3%～2.9%，占中国EGFR突变患者的2%～5% ［ 15 , 16 ］ 。这可能与不同研究中使用的检测方法不同及可能存在漏检的风险有关。NCCN指南建议在检测报告中应明确汇报EGFR ex20ins的具体变异类型，以更好地指导治疗方案的选择 ［ 9 ］ 。
在临床实践中，规范的肿瘤分子检测流程是确保NSCLC患者及时获得最佳治疗方法的重要前提。根据我国NSCLC患者的分子变异谱，主要靶向治疗相关驱动基因检测内容包括常见变异基因EGFR、KRAS、ALK以及少见变异基因ROS1、MET、HER-2、BRAF、RET等 ［ 17 ］ 。EGFR ex20ins检测一般包含于EGFR基因的常规检测中，但与常见的EGFR 缺失突变和点突变不同的是，由于EGFR ex20ins较强的分子异质性，基于聚合酶链反应（polymerase chain reaction，PCR）的检测方法虽快速简便，但对其有一定的漏检风险；而较为昂贵的二代测序（next generation sequencing，NGS）虽理论上可以检出所有EGFR ex20ins亚型，但对变异的命名缺乏统一规范。为优化检测流程、规范检测报告、最大程度使患者获益，中国抗癌协会肿瘤病理专业委员会分子病理协作组和中国医师协会肿瘤多学科诊疗专业委员会共同制定本共识，阐明不同检测人群、检测标本及检测方法的优缺点，希望本共识能够为我国EGFR ex20ins临床检测提供切实指导。
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备注信息
A
应建明，国家癌症中心 国家肿瘤临床医学研究中心 中国医学科学院北京协和医学院肿瘤医院病理科，北京100021，Email： nc.defcaab.smacicgniymj
B
王洁，国家癌症中心 国家肿瘤临床医学研究中心 中国医学科学院北京协和医学院肿瘤医院内科，北京 100021，Email： mocdef.3ab61ixuhlz
C

国际实践指南注册与透明化平台，PREPARE-2023CN328

D
中国抗癌协会肿瘤病理专业委员会分子病理协作组, 中国医师协会肿瘤多学科诊疗专业委员会. 非小细胞肺癌表皮生长因子受体20号外显子插入突变检测临床实践中国专家共识（2024版）[J]. 中华肿瘤杂志, 2024, 46(3): 179-188. DOI: 10.3760/cma.j.cn112152-20230905-00125.
E
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