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

Autor: Wu Z; Department of Respiratory and Critical Care Medicine, The First Affiliated Hospital of Nanjing Medical University, Nanjing, China., Wang Y; Department of Respiratory and Critical Care Medicine, The First Affiliated Hospital of Nanjing Medical University, Nanjing, China., Jin L; Department of Respiratory and Critical Care Medicine, The First Affiliated Hospital of Nanjing Medical University, Nanjing, China., Wei J; Department of Respiratory Medicine, Jiangsu Suining People's Hospital, Xuzhou, China., Han L; ChosenMed Technology (Beijing) Co., Ltd., Beijing, China., Su J; ChosenMed Technology (Beijing) Co., Ltd., Beijing, China., Cao S; ChosenMed Technology (Beijing) Co., Ltd., Beijing, China., Liu S; ChosenMed Technology (Beijing) Co., Ltd., Beijing, China., Duan X; ChosenMed Technology (Beijing) Co., Ltd., Beijing, China. xiaohongduan@chosenmedtech.com., Zhao X; Department of Respiratory and Critical Care Medicine, The First Affiliated Hospital of Nanjing Medical University, Nanjing, China. xinzhao1104@163.com.
Jazyk: angličtina
Zdroj: Journal of cancer research and clinical oncology [J Cancer Res Clin Oncol] 2023 Feb; Vol. 149 (2), pp. 921-927. Date of Electronic Publication: 2022 Sep 26.
DOI: 10.1007/s00432-022-04290-w
Abstrakt: 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.
(© 2022. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)
Databáze: MEDLINE
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