A case of sequential medical therapy for advanced ureteral cancer in Li–Fraumeni syndrome
Introduction Li–Fraumeni syndrome, an autosomal dominant cancer predisposition syndrome caused by a pathogenic variant of TP53, a tumor suppressor gene, leads to a high risk from early childhood of developing various types of cancers. Here, we report a case of advanced ureteral cancer in Li–Fraumeni...
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2023-09-01
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| Series: | IJU Case Reports |
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| Online Access: | https://doi.org/10.1002/iju5.12607 |
| _version_ | 1797694019020521472 |
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| author | Minami Une Ryo Fujiwara Arisa Ueki Ryosuke Oki Tetsuya Urasaki Kentaro Inamura Shunji Takahashi Junji Yonese Takeshi Yuasa |
| author_facet | Minami Une Ryo Fujiwara Arisa Ueki Ryosuke Oki Tetsuya Urasaki Kentaro Inamura Shunji Takahashi Junji Yonese Takeshi Yuasa |
| author_sort | Minami Une |
| collection | DOAJ |
| description | Introduction Li–Fraumeni syndrome, an autosomal dominant cancer predisposition syndrome caused by a pathogenic variant of TP53, a tumor suppressor gene, leads to a high risk from early childhood of developing various types of cancers. Here, we report a case of advanced ureteral cancer in Li–Fraumeni syndrome. Case presentation A 73 years‐old female patient, who had been diagnosed genetically as Li–Fraumeni syndrome; suffered from chondrosarcoma in the left pelvic joint, bilateral breast cancer, endometrial cancer, gastric cancer, and colon cancer in her history. She was diagnosed as unresectable advanced urothelial cancer during continuous magnetic resonance imaging surveillance, underwent avelumab maintenance therapy after the combination of gemcitabine and cisplatin chemotherapy. The efficacies of gemcitabine and cisplatin chemotherapy and avelumab maintenance therapy were good. Conclusion We report an advanced urothelial cancer in a patient with Li–Fraumeni syndrome who demonstrated good efficacies to sequential medical therapy. |
| first_indexed | 2024-03-12T02:51:55Z |
| format | Article |
| id | doaj.art-19f307c5fcb141499aca3bf099a9e54d |
| institution | Directory Open Access Journal |
| issn | 2577-171X |
| language | English |
| last_indexed | 2024-03-12T02:51:55Z |
| publishDate | 2023-09-01 |
| publisher | Wiley |
| record_format | Article |
| series | IJU Case Reports |
| spelling | doaj.art-19f307c5fcb141499aca3bf099a9e54d2023-09-04T00:11:48ZengWileyIJU Case Reports2577-171X2023-09-016528628910.1002/iju5.12607A case of sequential medical therapy for advanced ureteral cancer in Li–Fraumeni syndromeMinami Une0Ryo Fujiwara1Arisa Ueki2Ryosuke Oki3Tetsuya Urasaki4Kentaro Inamura5Shunji Takahashi6Junji Yonese7Takeshi Yuasa8Department of Genitourinary Oncology, Cancer Institute Hospital Japanese Foundation for Cancer Research Tokyo JapanDepartment of Genitourinary Oncology, Cancer Institute Hospital Japanese Foundation for Cancer Research Tokyo JapanDepartment of Clinical Genetic Oncology, Cancer Institute Hospital Japanese Foundation for Cancer Research Tokyo JapanDepartment of Medical Oncology, Cancer Institute Hospital Japanese Foundation for Cancer Research Tokyo JapanDepartment of Medical Oncology, Cancer Institute Hospital Japanese Foundation for Cancer Research Tokyo JapanDepartment of Pathology, Cancer Institute Hospital Japanese Foundation for Cancer Research Tokyo JapanDepartment of Medical Oncology, Cancer Institute Hospital Japanese Foundation for Cancer Research Tokyo JapanDepartment of Genitourinary Oncology, Cancer Institute Hospital Japanese Foundation for Cancer Research Tokyo JapanDepartment of Genitourinary Oncology, Cancer Institute Hospital Japanese Foundation for Cancer Research Tokyo JapanIntroduction Li–Fraumeni syndrome, an autosomal dominant cancer predisposition syndrome caused by a pathogenic variant of TP53, a tumor suppressor gene, leads to a high risk from early childhood of developing various types of cancers. Here, we report a case of advanced ureteral cancer in Li–Fraumeni syndrome. Case presentation A 73 years‐old female patient, who had been diagnosed genetically as Li–Fraumeni syndrome; suffered from chondrosarcoma in the left pelvic joint, bilateral breast cancer, endometrial cancer, gastric cancer, and colon cancer in her history. She was diagnosed as unresectable advanced urothelial cancer during continuous magnetic resonance imaging surveillance, underwent avelumab maintenance therapy after the combination of gemcitabine and cisplatin chemotherapy. The efficacies of gemcitabine and cisplatin chemotherapy and avelumab maintenance therapy were good. Conclusion We report an advanced urothelial cancer in a patient with Li–Fraumeni syndrome who demonstrated good efficacies to sequential medical therapy.https://doi.org/10.1002/iju5.12607advanced urothelial canceravelumabimmune checkpoint inhibitorLi–Fraumeni syndromeTP53 pathogenic variant |
| spellingShingle | Minami Une Ryo Fujiwara Arisa Ueki Ryosuke Oki Tetsuya Urasaki Kentaro Inamura Shunji Takahashi Junji Yonese Takeshi Yuasa A case of sequential medical therapy for advanced ureteral cancer in Li–Fraumeni syndrome IJU Case Reports advanced urothelial cancer avelumab immune checkpoint inhibitor Li–Fraumeni syndrome TP53 pathogenic variant |
| title | A case of sequential medical therapy for advanced ureteral cancer in Li–Fraumeni syndrome |
| title_full | A case of sequential medical therapy for advanced ureteral cancer in Li–Fraumeni syndrome |
| title_fullStr | A case of sequential medical therapy for advanced ureteral cancer in Li–Fraumeni syndrome |
| title_full_unstemmed | A case of sequential medical therapy for advanced ureteral cancer in Li–Fraumeni syndrome |
| title_short | A case of sequential medical therapy for advanced ureteral cancer in Li–Fraumeni syndrome |
| title_sort | case of sequential medical therapy for advanced ureteral cancer in li fraumeni syndrome |
| topic | advanced urothelial cancer avelumab immune checkpoint inhibitor Li–Fraumeni syndrome TP53 pathogenic variant |
| url | https://doi.org/10.1002/iju5.12607 |
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