A Primary Lung and Breast Cancer Patient with Germline EGFR R776H Mutation: A Case Report and Literature Review

Abstract

For advanced non-small cell lung cancer (NSCLC) patients with common epidermal growth factor receptor (EGFR) mutations (exon 19 deletions or the exon 21 L858R mutation), tyrosine kinase inhibitors (TKIs) are the standard therapies. However, EGFR germline mutations are extremely rare in lung cancer, and the effective therapy is unclear. This study reports a patient with primary breast and lung cancer carried rare germline EGFR R776H and somatic L861Q mutation, who benefit from EGFR TKIs. Her family cancer history review demonstrated that her three out of four sisters with lung cancer were positive for EGFR R776H. Interestingly, only her healthy sister had type O blood, different from other sisters with type B blood. Our study provides a meaningful insight into the potential treatment option for patients with germline EGFR R776H and somatic L861Q mutation and highlights the importance of next-generation sequencing (NGS) in discovering rare genetic alterations to guide the prevention of genetic disease.

Keywords:

• EGFR R776H
• germline mutation
• non-small cell lung cancer
• Gefitinib
• Osimertinib

Data Sharing Statement

All datasets generated for this study are included in the manuscript.

Ethics Approval and Consent for Publication

This research was approved by the Ethics Committee of The Second Hospital of Dalian Medical University. Written informed consent to publish the clinical details and images were obtained from the patient.

Acknowledgments

Wu Jieping Medical Foundation (No. 320.6750.2021-16-28).

Author Contributions

All authors contributed to data analysis and drafting or revising of the manuscript. All authors agreed on the journal to which the article is submitted, provided final approval of the manuscript version to be published, and agreed to be accountable for all aspects of the study.

Disclosure

Evenki Pan and Peng Yang are employed by Nanjing Geneseeq Technology Inc. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.