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肺腺癌表皮生长因子受体突变状态:在“印度语境下的肺癌管理”国家会议上的多机构数据讨论。

Epidermal growth factor receptor mutation status in pulmonary adenocarcinoma: Multi-institutional data discussion at national conference of "Lung Cancer Management in Indian context".

机构信息

Department of Pathology, All India Institute of Medical Sciences, New Delhi, India.

Rajiv Gandhi Cancer Institute and Research Centre, New Delhi, India.

出版信息

Curr Probl Cancer. 2020 Jun;44(3):100561. doi: 10.1016/j.currproblcancer.2020.100561. Epub 2020 Feb 28.

DOI:10.1016/j.currproblcancer.2020.100561
PMID:32169258
Abstract

The presence of activating mutations in the tyrosine kinase domain of the epidermal growth factor receptor (EGFR) gene in adenocarcinomas of lung confers sensitivity to tyrosine kinase inhibitor therapy. The prevalence of EGFR mutations varies among different ethnicities and demographic profile. This multi-institutional data was compiled to determine the EGFR mutation status in Indians patients with lung adenocarcinoma. Cohorts represented by 4 tertiary care hospitals participated in data discussion at a national conference entitled as 'Lung Cancer Management in Indian Context'. The clinicopathologic data and EGFR mutation rate in the patients of lung adenocarcinoma screened in these cohorts were collected and analyzed. The sample types included both surgical and cytological specimens. A variety of methods were used including immunohistochemistry, polymerase chain reaction, Sanger sequencing and next generation sequencing. A total of 3436 cases of treatment naïve lung adenocarcinoma were tested for EGFR mutations. The overall frequency of EGFR mutations observed was 30.03%. The most common baseline mutation detected was exon 19 deletion followed by L858R point mutation in exon 21. Dual mutations were observed in 6.5% of cases and were predominantly combinations of exon 19 deletion and T790M point mutation in exon 20. Incidence of EGFR mutations was higher among females and non-smokers diagnosed with lung adenocarcinomas. The most common histology in EGFR mutant cases was acinar predominant adenocarcinomas. With nearly one-third of Indian patients with lung adenocarcinoma harboring EGFR mutations, routine testing for these mutations is important to get the benefit of targeted therapy.

摘要

肺腺癌中表皮生长因子受体 (EGFR) 基因酪氨酸激酶结构域的激活突变的存在赋予了对酪氨酸激酶抑制剂治疗的敏感性。EGFR 突变的流行率在不同种族和人口统计学特征中有所不同。本多机构数据旨在确定印度肺腺癌患者的 EGFR 突变状态。代表 4 家三级护理医院的队列参加了题为“印度背景下的肺癌管理”的全国会议的数据讨论。这些队列中筛选的肺腺癌患者的临床病理数据和 EGFR 突变率被收集和分析。样本类型包括手术和细胞学标本。使用了多种方法,包括免疫组织化学、聚合酶链反应、Sanger 测序和下一代测序。共检测了 3436 例未经治疗的肺腺癌患者的 EGFR 突变。观察到的 EGFR 突变总体频率为 30.03%。最常见的基线突变是外显子 19 缺失,其次是外显子 21 中的 L858R 点突变。双突变在 6.5%的病例中观察到,主要是外显子 19 缺失和外显子 20 中的 T790M 点突变的组合。在诊断为肺腺癌的女性和非吸烟者中,EGFR 突变的发生率较高。在 EGFR 突变病例中最常见的组织学类型是腺泡为主的腺癌。由于近三分之一的印度肺腺癌患者携带 EGFR 突变,因此常规检测这些突变对于获得靶向治疗的益处非常重要。

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