Case report: identification of EGFR R776H and FANCE R381H germline mutations in a patient with multiple pulmonary nodules

被引:0
作者
Zhenzhen Wu
Yanli Wang
Linling Jin
Juan Wei
Li Han
Junyan Su
Shuliang Cao
Siyao Liu
Xiaohong Duan
Xin Zhao
机构
[1] The First Affiliated Hospital of Nanjing Medical University,Department of Respiratory and Critical Care Medicine
[2] Jiangsu Suining People’s Hospital,Department of Respiratory Medicine
[3] ChosenMed Technology (Beijing) Co.,undefined
[4] Ltd.,undefined
来源
Journal of Cancer Research and Clinical Oncology | 2023年 / 149卷
关键词
Multiple pulmonary nodules; R776H; R381H; Germline mutations;
D O I
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学科分类号
摘要
Pulmonary nodules evaluation is clinically crucial because they may be the early predictors of lung cancer. Except for CT screening and serum tumor biomarkers testing, genetic alteration analysis by next-generation sequencing (NGS) technology can also help to find cancer earlier. In this study, we report a case of multiple pulmonary nodules patient with EGFR R776H and FANCE R381H germline mutations. Her father, paternal aunt, and elder uncle harbored either one or both two mutations and were found with multiple pulmonary ground-glass or sub-solid nodules. Her 7-year-old daughter also inherited the same two mutations.
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页码:921 / 927
页数:6
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