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Case report: identification of EGFR R776H and FANCE R381H germline mutations in a patient with multiple pulmonary nodules.
Wu, Zhenzhen; Wang, Yanli; Jin, Linling; Wei, Juan; Han, Li; Su, Junyan; Cao, Shuliang; Liu, Siyao; Duan, Xiaohong; Zhao, Xin.
Afiliação
  • 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.
J Cancer Res Clin Oncol ; 149(2): 921-927, 2023 Feb.
Article em En | MEDLINE | ID: mdl-36163560
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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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteína do Grupo de Complementação E da Anemia de Fanconi / Nódulos Pulmonares Múltiplos / Receptores ErbB / Neoplasias Pulmonares Tipo de estudo: Diagnostic_studies Limite: Aged / Child / Female / Humans Idioma: En Revista: J Cancer Res Clin Oncol Ano de publicação: 2023 Tipo de documento: Article País de afiliação: China

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteína do Grupo de Complementação E da Anemia de Fanconi / Nódulos Pulmonares Múltiplos / Receptores ErbB / Neoplasias Pulmonares Tipo de estudo: Diagnostic_studies Limite: Aged / Child / Female / Humans Idioma: En Revista: J Cancer Res Clin Oncol Ano de publicação: 2023 Tipo de documento: Article País de afiliação: China