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

Abstract

Dan Li,1,* Xin Liu,1,* SaiQiong Cui,1 DaFu Yang,1 Yue Zhu,1 Evenki Pan,2 Peng Yang,2 ZhaoXia Dai1 1The Second Department of Thoracic Medical Oncology, The Second Hospital of Dalian Medical University, Dalian, People’s Republic of China; 2Nanjing Geneseeq Technology Inc., Nanjing, People’s Republic of China*These authors contributed equally to this workCorrespondence: ZhaoXia Dai, The Second Department of Thoracic Medical Oncology, The Second Hospital of Dalian Medical University, No. 467, Zhongshan Road, Shahekou District, Dalian, People’s Republic of China, Email [email protected]: 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

Keywords

• egfr r776h
• germline mutation
• non-small cell lung cancer
• gefitinib
• osimertinib