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原发性肺腺癌及相应骨转移灶中表皮生长因子受体基因突变状态

Epidermal Growth Factor Receptor Gene Mutation Status in Primary Lung Adenocarcinoma and Corresponding Bone Metastases.

作者信息

Shi Peng-Xu, Li Yue-Ting, Wang Si-Yao, Sun Rui-Ze, Xu Hong-Tao, Dong Qian-Ze, Zhao Yue, Wang En-Hua, Liu Yang

机构信息

Department of Bone Surgery, the People's Hospital of Liaoning Province.

Department of Breast Surgery, Cancer Hospital of China Medical University.

出版信息

Appl Immunohistochem Mol Morphol. 2020 Jan;28(1):49-56. doi: 10.1097/PAI.0000000000000725.

Abstract

BACKGROUND

The aim of this study was to compare epidermal growth factor receptor (EGFR) mutations between primary tumors and corresponding bone metastases (BMs) in lung adenocarcinoma.

MATERIALS AND METHODS

In total, 115 paired primary lung adenocarcinoma and corresponding BM tumors were analyzed for EGFR mutations by Amplification Refractory Mutation System.

RESULTS

EGFR mutations were detected in 61 primary lung adenocarcinomas (53.04%) and in 67 corresponding metastases (58.26%), respectively. The EGFR mutation rate was significantly higher in female and in never-smoker patients. The consistency of EGFR mutations between the 115 matched BMs and primary tumor tissue samples reached to 80.87%, and the disparity was 19.13%. Mutations in exons 19 (19-del) and 21 (point mutation L858R) were the predominant mutation type.

CONCLUSIONS

The concordance rate demonstrated the feasibility of EGFR mutations in corresponding metastases using Amplification Refractory Mutation System when the primary tumor tissue is unavailable in the lung adenocarcinoma patients, and the inconsistency indicates that corresponding metastasis being screened simultaneously with the primary tumor samples may present some supplementary information for the patients.

摘要

背景

本研究旨在比较肺腺癌原发肿瘤与相应骨转移瘤(BMs)之间的表皮生长因子受体(EGFR)突变情况。

材料与方法

总共对115对原发性肺腺癌及其相应的BM肿瘤进行了分析,采用扩增阻滞突变系统检测EGFR突变。

结果

分别在61例原发性肺腺癌(53.04%)和67例相应转移瘤(58.26%)中检测到EGFR突变。女性和从不吸烟患者的EGFR突变率显著更高。115对匹配的BMs与原发肿瘤组织样本之间EGFR突变的一致性达到80.87%,差异为19.13%。外显子19(19-del)和21(点突变L858R)的突变是主要的突变类型。

结论

一致性率表明,当肺腺癌患者无法获得原发肿瘤组织时,使用扩增阻滞突变系统检测相应转移瘤中EGFR突变具有可行性,而不一致性表明与原发肿瘤样本同时筛查相应转移瘤可能为患者提供一些补充信息。

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