He SY, Lin QF, Chen J, Yu GP, Zhang JL, Shen D. Efficacy of afatinib in a patient with rare EGFR (G724S/R776H) mutations and amplification in lung adenocarcinoma: A case report. World J Clin Cases 2021; 9(6): 1329-1335 [PMID: 33644199 DOI: 10.12998/wjcc.v9.i6.1329]
Corresponding Author of This Article
Dong Shen, PhD, Chief Doctor, Professor, Department of Medical Oncology, The Jiangyin Clinical College of Xuzhou Medical University, No. 163 Shoushan Road, Jiangyin 214400, Jiangsu Province, China. sdshendong@126.com
Research Domain of This Article
Oncology
Article-Type of This Article
Case Report
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Shu-Yan He, Qing-Feng Lin, Jie Chen, Dong Shen, Department of Medical Oncology, The Jiangyin Clinical College of Xuzhou Medical University, Jiangyin 214400, Jiangsu Province, China
Gui-Ping Yu, Department of Cardiothoracic Surgery, The Affiliated Jiangyin Hospital of Southeast University, Jiangyin 214400, Jiangsu Province, China
Jun-Ling Zhang, Medical Department, 3D Medicines Inc., Shanghai 201114, China
Author contributions: He SY and Shen D contributed to the study concept and design and performed the statistical analysis; Lin QF, Chen J, and Yu GP contributed to the acquisition, analysis, or interpretation of the data; Zhang JL contributed to the drafting of the manuscript; Zhang JL and Shen D contributed to the critical revision of the manuscript for important intellectual content.
Informed consent statement: Written informed consent was obtained from the patient for publication of this manuscript and any accompanying images.
Conflict-of-interest statement: Zhang JL is an employee of Shanghai 3D Medicines Inc. All other authors declare no competing interests.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Dong Shen, PhD, Chief Doctor, Professor, Department of Medical Oncology, The Jiangyin Clinical College of Xuzhou Medical University, No. 163 Shoushan Road, Jiangyin 214400, Jiangsu Province, China. sdshendong@126.com
Received: September 8, 2020 Peer-review started: September 8, 2020 First decision: November 20, 2020 Revised: December 3, 2020 Accepted: December 22, 2020 Article in press: December 22, 2020 Published online: February 26, 2021 Processing time: 150 Days and 18.3 Hours
Abstract
BACKGROUND
The most common EGFR mutations are in-frame deletions in exon 19 and point mutations in exon 21. Cases with classical EGFR 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 EGFR mutations remains unclear.
CASE SUMMARY
Here, we report a case of rare EGFR co-mutation in non-small cell lung cancer and the efficacy of afatinib on this EGFR 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 EGFR G724S/R776H 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 EGFR G724S/R776H mutations and EGFR amplification responds well to TKI treatment.
Core Tip: EGFR represents the first identified targetable oncogenic driver discovered in non-small cell lung cancer (NSCLC). The most common EGFR mutations are in-frame deletions in exon 19 and point mutations in exon 21. However, rare mutations were found in nearly 10%-15% of EGFR-positive NSCLC and NSCLC with rare co-mutations had significantly different responses to EGFR tyrosine kinase inhibitor. Herein, we describe a rare case of rare EGFR G724S/R776H mutations and amplification in a NSCLC responding to afatinib.
