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：
暂无
中图分类号：
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.
引用
收藏
页码：921 / 927
页数：6
相关论文
共 74 条
  • [1] An G(2021)Molecular characteristics of EGFR exon 20 uncommon R776H mutation and response to osimertinib in NSCLC patients J Clin Oncol 39 e21001-e21001
  • [2] He L(2013)Evaluation of individuals with pulmonary nodules: when is it lung cancer? Chest 143 e93S-e120S
  • [3] Wang X(2021)Two cases of non-small cell lung cancer patients with somatic or germline EGFR R776H mutation Lung Cancer 161 94-97
  • [4] Lei Y(2021)China guideline for the screening and early detection of lung cancer(2021, Beijing) Zhonghua Zhong Liu Za Zhi [chinese Journal of Oncology] 43 243-268
  • [5] Gu D(2021)RNF213 gene mutation in circulating tumor DNA detected by targeted next-generation sequencing in the assisted discrimination of early-stage lung cancer from pulmonary nodules Thoracic Cancer 12 181-193
  • [6] Chen R(2015)Clonal origins and parallel evolution of regionally synchronous colorectal adenoma and carcinoma Oncotarget 6 27725-27735
  • [7] Gould MK(2022)Evaluating the patient with a pulmonary nodule: a review JAMA 327 264-273
  • [8] Donington J(2013)Probability of cancer in pulmonary nodules detected on first screening CT N Engl J Med 369 910-919
  • [9] Lynch WR(2014)Germ-line exon 21 EGFR mutations, V843I and P848L, in nonsmall cell lung cancer patients Eur Respir Rev 23 390-392
  • [10] Mazzone PJ(2015)Mechanistic insights into R776H mediated activation of epidermal growth factor receptor kinase Biochemistry 54 4216-4225
12345678