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

For advanced non-small cell lung cancer (NSCLC) patients with common epidermal growth factor receptor ( ) mutations (exon 19 deletions or the exon 21 L858R mutation), tyrosine kinase inhibitors (TKIs) are the standard therapies. However, germline mutations are extremely rare in lung cancer, and the...

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Bibliographic Details
Published in:OncoTargets and therapy 2023-01, Vol.16, p.17-22
Main Authors: Li, Dan, Liu, Xin, Cui, SaiQiong, Yang, DaFu, Zhu, Yue, Pan, Evenki, Yang, Peng, Dai, ZhaoXia
Format: Article
Language:English
Subjects:
ABO system
Age
Biopsy
Breast cancer
Cancer
Cancer patients
Cancer therapies
Care and treatment
Case Report
Case reports
Chemotherapy
Epidermal growth factor
Epidermal growth factor receptors
Estrogens
Family medical history
Females
Gene mutations
Genetic aspects
Genetic disorders
Genetic research
Genetic testing
Kinases
Literature reviews
Lung cancer
Lung cancer, Non-small cell
Medical imaging
Mutation
Next-generation sequencing
Non-small cell lung carcinoma
Oncology, Experimental
Patients
Pemetrexed
Protein-tyrosine kinase
Small cell lung carcinoma
Targeted cancer therapy
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Summary:For advanced non-small cell lung cancer (NSCLC) patients with common epidermal growth factor receptor ( ) mutations (exon 19 deletions or the exon 21 L858R mutation), tyrosine kinase inhibitors (TKIs) are the standard therapies. However, 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 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 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 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.
ISSN:1178-6930
1178-6930
DOI:10.2147/OTT.S391766