Abstract
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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Data availability
The datasets generated and analysed in this study are available from the corresponding author on reasonable request.
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Acknowledgements
The authors wish to thank the patient and her family members for participating in this study.
Funding
This work is partially supported by National Natural Science Foundation of China under Grant No. 81800090.
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Conceptualization: XZ; attending physicians for the patient: ZW, YW, and JW; writing and revising original draft: ZW, YW, LJ, XD; collecting and analyzing data: LH, JS, SL, SC.
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Li Han, Junyan Su, Shuliang Cao, Siyao Liu and Xiaohong Duan are employees at ChosenMed Technology. The remaining authors declare that there are no competing interests to declare.
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This study was performed in line with the principles of the Declaration of Helsinki. Approval was granted by the Ethics Committee of the First Affiliated Hospital of Nanjing Medical University.
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Wu, Z., Wang, Y., Jin, L. et al. Case report: identification of EGFR R776H and FANCE R381H germline mutations in a patient with multiple pulmonary nodules. J Cancer Res Clin Oncol 149, 921–927 (2023). https://doi.org/10.1007/s00432-022-04290-w
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DOI: https://doi.org/10.1007/s00432-022-04290-w