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: Li–Fraumeni syndrome; TP53 pathogenic variant; advanced urothelial cancer; avelumab; immune checkpoint inhibitor.

Fig. 1

Schematic presentation of the clinical history for various malignancies in this case.

Fig. 2

An advanced ureteral cancer in LFS. MRI presentation of advanced ureteral cancer at initial diagnosis (a), after six cycles of the combination of gemcitabine and cisplatin (b), and after eight cycles of avelumab maintenance therapy (c). Schematic presentation for diagnosis and medical therapy for advanced ureteral cancer (d).