EGFR-Mutated Lung Adenocarcinoma With Li–Fraumeni Syndrome: The Imperative for Germline Testing in Patients With a Family History, a Case Report
Comprehensive genomic profiling (CGP) has progressed rapidly and plays an important role in advancing precision medicine in oncology. However, CGP provides opportunities for molecular-targeted therapy, but it also unveils incidental germline findings, posing challenges and opportunities in patient c...
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Elsevier
2025-02-01
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| Series: | JTO Clinical and Research Reports |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2666364324000614 |
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| author | Hiroyuki Fujii, MD Yusuke Okuma, MD, PhD Makoto Hirata, MD, PhD Yuki Shinno, MD, PhD Tatsuya Yoshida, MD, PhD Yasushi Goto, MD, PhD Hidehito Horinouchi, MD, PhD Noboru Yamamoto, MD, PhD Yuichiro Ohe, MD, PhD |
| author_facet | Hiroyuki Fujii, MD Yusuke Okuma, MD, PhD Makoto Hirata, MD, PhD Yuki Shinno, MD, PhD Tatsuya Yoshida, MD, PhD Yasushi Goto, MD, PhD Hidehito Horinouchi, MD, PhD Noboru Yamamoto, MD, PhD Yuichiro Ohe, MD, PhD |
| author_sort | Hiroyuki Fujii, MD |
| collection | DOAJ |
| description | Comprehensive genomic profiling (CGP) has progressed rapidly and plays an important role in advancing precision medicine in oncology. However, CGP provides opportunities for molecular-targeted therapy, but it also unveils incidental germline findings, posing challenges and opportunities in patient care.We present the case of a 32-year-old female patient, diagnosed with stage IVB lung adenocarcinoma harboring an EGFR p.L746_A750del, who was also subsequently diagnosed with Li–Fraumeni syndrome (LFS) through CGP testing. Remarkably, despite the presence of EGFR mutation, the response to EGFR-tyrosine kinase inhibitor was poor, whereas the response to cytotoxic anticancer drugs and immunotherapy was favorable. After the diagnosis of LFS, she underwent genetic counseling and has been screened for the development of a second cancer based on the Toronto protocol.This case highlights the importance of family history interviews and considering the practice of germline genomic testing for optimal management of lung cancer patients with a hereditary cancer syndrome such as LFS. Further research is warranted to delineate the impact of germline variants on treatment outcomes and secondary cancer prevention in lung cancer. |
| format | Article |
| id | doaj-art-f7390ccd5de340b99de9a2849d834171 |
| institution | Kabale University |
| issn | 2666-3643 |
| language | English |
| publishDate | 2025-02-01 |
| publisher | Elsevier |
| record_format | Article |
| series | JTO Clinical and Research Reports |
| spelling | doaj-art-f7390ccd5de340b99de9a2849d8341712025-01-22T05:44:08ZengElsevierJTO Clinical and Research Reports2666-36432025-02-0162100691EGFR-Mutated Lung Adenocarcinoma With Li–Fraumeni Syndrome: The Imperative for Germline Testing in Patients With a Family History, a Case ReportHiroyuki Fujii, MD0Yusuke Okuma, MD, PhD1Makoto Hirata, MD, PhD2Yuki Shinno, MD, PhD3Tatsuya Yoshida, MD, PhD4Yasushi Goto, MD, PhD5Hidehito Horinouchi, MD, PhD6Noboru Yamamoto, MD, PhD7Yuichiro Ohe, MD, PhD8Department of Thoracic Oncology, National Cancer Center Hospital, Chuo, Tokyo, Japan; Department of Pulmonary Medicine, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kawaramachi-Hirokoji, Kamigyo, Kyoto, JapanDepartment of Thoracic Oncology, National Cancer Center Hospital, Chuo, Tokyo, Japan; Corresponding author. Address for correspondence: Yusuke Okuma, MD, PhD, Department of Thoracic Oncology, National Cancer Center Hospital, 5-1-1 Tsukiji, Chuo, Tokyo 104-0045, Japan.Department of Genetic Medicine and Services, National Cancer Center Hospital, Chuo, Tokyo, JapanDepartment of Thoracic Oncology, National Cancer Center Hospital, Chuo, Tokyo, JapanDepartment of Thoracic Oncology, National Cancer Center Hospital, Chuo, Tokyo, JapanDepartment of Thoracic Oncology, National Cancer Center Hospital, Chuo, Tokyo, JapanDepartment of Thoracic Oncology, National Cancer Center Hospital, Chuo, Tokyo, JapanDepartment of Thoracic Oncology, National Cancer Center Hospital, Chuo, Tokyo, JapanDepartment of Thoracic Oncology, National Cancer Center Hospital, Chuo, Tokyo, JapanComprehensive genomic profiling (CGP) has progressed rapidly and plays an important role in advancing precision medicine in oncology. However, CGP provides opportunities for molecular-targeted therapy, but it also unveils incidental germline findings, posing challenges and opportunities in patient care.We present the case of a 32-year-old female patient, diagnosed with stage IVB lung adenocarcinoma harboring an EGFR p.L746_A750del, who was also subsequently diagnosed with Li–Fraumeni syndrome (LFS) through CGP testing. Remarkably, despite the presence of EGFR mutation, the response to EGFR-tyrosine kinase inhibitor was poor, whereas the response to cytotoxic anticancer drugs and immunotherapy was favorable. After the diagnosis of LFS, she underwent genetic counseling and has been screened for the development of a second cancer based on the Toronto protocol.This case highlights the importance of family history interviews and considering the practice of germline genomic testing for optimal management of lung cancer patients with a hereditary cancer syndrome such as LFS. Further research is warranted to delineate the impact of germline variants on treatment outcomes and secondary cancer prevention in lung cancer.http://www.sciencedirect.com/science/article/pii/S2666364324000614Case reportLi–Fraumeni syndromeEGFR mutationLung adenocarcinoma |
| spellingShingle | Hiroyuki Fujii, MD Yusuke Okuma, MD, PhD Makoto Hirata, MD, PhD Yuki Shinno, MD, PhD Tatsuya Yoshida, MD, PhD Yasushi Goto, MD, PhD Hidehito Horinouchi, MD, PhD Noboru Yamamoto, MD, PhD Yuichiro Ohe, MD, PhD EGFR-Mutated Lung Adenocarcinoma With Li–Fraumeni Syndrome: The Imperative for Germline Testing in Patients With a Family History, a Case Report JTO Clinical and Research Reports Case report Li–Fraumeni syndrome EGFR mutation Lung adenocarcinoma |
| title | EGFR-Mutated Lung Adenocarcinoma With Li–Fraumeni Syndrome: The Imperative for Germline Testing in Patients With a Family History, a Case Report |
| title_full | EGFR-Mutated Lung Adenocarcinoma With Li–Fraumeni Syndrome: The Imperative for Germline Testing in Patients With a Family History, a Case Report |
| title_fullStr | EGFR-Mutated Lung Adenocarcinoma With Li–Fraumeni Syndrome: The Imperative for Germline Testing in Patients With a Family History, a Case Report |
| title_full_unstemmed | EGFR-Mutated Lung Adenocarcinoma With Li–Fraumeni Syndrome: The Imperative for Germline Testing in Patients With a Family History, a Case Report |
| title_short | EGFR-Mutated Lung Adenocarcinoma With Li–Fraumeni Syndrome: The Imperative for Germline Testing in Patients With a Family History, a Case Report |
| title_sort | egfr mutated lung adenocarcinoma with li fraumeni syndrome the imperative for germline testing in patients with a family history a case report |
| topic | Case report Li–Fraumeni syndrome EGFR mutation Lung adenocarcinoma |
| url | http://www.sciencedirect.com/science/article/pii/S2666364324000614 |
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