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阿法替尼治疗罕见表皮生长因子受体(G724S/R776H)突变并伴有扩增的肺腺癌患者的疗效:一例报告

Efficacy of afatinib in a patient with rare EGFR (G724S/R776H) mutations and amplification in lung adenocarcinoma: A case report.

作者信息

He Shu-Yan, Lin Qing-Feng, Chen Jie, Yu Gui-Ping, Zhang Jun-Ling, Shen Dong

机构信息

Department of Medical Oncology, The Jiangyin Clinical College of Xuzhou Medical University, Jiangyin 214400, Jiangsu Province, China.

Department of Cardiothoracic Surgery, The Affiliated Jiangyin Hospital of Southeast University, Jiangyin 214400, Jiangsu Province, China.

出版信息

World J Clin Cases. 2021 Feb 26;9(6):1329-1335. doi: 10.12998/wjcc.v9.i6.1329.

Abstract

BACKGROUND

The most common mutations are in-frame deletions in exon 19 and point mutations in exon 21. Cases with classical mutations show a good response to EGFR tyrosine kinase inhibitors (TKIs), the standard first-line treatment. With the development of next generation sequencing, some uncommon genomic mutations have been detected. However, the effect of TKIs on such uncommon mutations remains unclear.

CASE SUMMARY

Here, we report a case of rare co-mutation in non-small cell lung cancer and the efficacy of afatinib on this co-mutation. A 64-year-old woman was diagnosed with thoracolumbar and bilateral local rib bone metastases, bilateral pulmonary nodules, and pericardial and left pleural effusion. The pathological diagnosis was lung adenocarcinoma. To seek potential therapeutic regimens, rare co-mutation comprising rare mutations and amplification were identified. The patient experienced a significant clinical response with a progression-free survival of 17 mo.

CONCLUSION

A case of non-small cell lung cancer with rare / mutations and amplification responds well to TKI treatment.

摘要

背景

最常见的突变是外显子19的框内缺失和外显子21的点突变。具有经典突变的病例对表皮生长因子受体酪氨酸激酶抑制剂(TKIs)(标准一线治疗)表现出良好反应。随着下一代测序技术的发展,已检测到一些不常见的基因组突变。然而,TKIs对这类不常见突变的效果仍不清楚。

病例摘要

在此,我们报告一例非小细胞肺癌罕见共突变病例以及阿法替尼对此共突变的疗效。一名64岁女性被诊断为胸腰椎及双侧局部肋骨骨转移、双侧肺结节、心包及左侧胸腔积液。病理诊断为肺腺癌。为寻找潜在治疗方案,鉴定出包含罕见突变和扩增的罕见共突变。该患者出现显著临床反应,无进展生存期为17个月。

结论

一例具有罕见/突变和扩增的非小细胞肺癌病例对TKI治疗反应良好。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/95d7/7896682/227e5467dd44/WJCC-9-1329-g001.jpg

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