A case of sequential medical therapy for advanced ureteral cancer in Li–Fraumeni syndrome

Abstract

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.

Keywords

• advanced urothelial cancer
• avelumab
• immune checkpoint inhibitor
• Li–Fraumeni syndrome
• TP53 pathogenic variant