Une Minami, Fujiwara Ryo, Ueki Arisa, Oki Ryosuke, Urasaki Tetsuya, Inamura Kentaro, Takahashi Shunji, Yonese Junji, Yuasa Takeshi
Department of Genitourinary Oncology, Cancer Institute Hospital Japanese Foundation for Cancer Research Tokyo Japan.
Department of Clinical Genetic Oncology, Cancer Institute Hospital Japanese Foundation for Cancer Research Tokyo Japan.
IJU Case Rep. 2023 Jul 13;6(5):286-289. doi: 10.1002/iju5.12607. eCollection 2023 Sep.
Li-Fraumeni syndrome, an autosomal dominant cancer predisposition syndrome caused by a pathogenic variant of , 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.
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.
We report an advanced urothelial cancer in a patient with Li-Fraumeni syndrome who demonstrated good efficacies to sequential medical therapy.
李-弗劳梅尼综合征是一种常染色体显性遗传性癌症易感综合征,由肿瘤抑制基因的致病性变异引起,导致从幼儿期起就有患各种癌症的高风险。在此,我们报告一例李-弗劳梅尼综合征患者发生的晚期输尿管癌病例。
一名73岁女性患者,经基因诊断为李-弗劳梅尼综合征;既往有左髋关节软骨肉瘤、双侧乳腺癌、子宫内膜癌、胃癌和结肠癌病史。在连续磁共振成像监测期间,她被诊断为不可切除的晚期尿路上皮癌,在吉西他滨和顺铂联合化疗后接受了阿维鲁单抗维持治疗。吉西他滨和顺铂化疗以及阿维鲁单抗维持治疗的疗效良好。
我们报告了一例李-弗劳梅尼综合征患者发生的晚期尿路上皮癌,该患者对序贯药物治疗显示出良好疗效。