Juhász Dániel, Csizmarik Anita, Szalontai János, Keszthelyi Attila, Dér Bálint, Kubik András, Szűcs Miklós, Kenessey István, Ertl Iris E, Berger Walter, Englinger Bernhard, Shariat Shahrokh F, Nyirády Péter, Szarvas Tibor
Department of Urology, Semmelweis University, Üllői Street 78/b, H-1082 Budapest, Hungary.
Department of Pathology, Forensic and Insurance Medicine, Semmelweis University, H-1082 Budapest, Hungary.
Int J Mol Sci. 2024 Dec 12;25(24):13315. doi: 10.3390/ijms252413315.
Urachal cancer (UrC) is a rare disease which is mostly diagnosed late due to symptoms caused by its local invasion to the urinary bladder. Given the lack of clinical trials and guideline recommendations for systemic treatment, a molecularly informed precision oncology approach is a viable option for UrC already in the early lines of systemic treatment. While single case experiences may provide valuable reference for later decision-making, well-documented clinical experience with off-label targeted treatments is limited to a few patients. Here, we report a case of a 31-year-old female UrC patient who underwent intensive therapy with three surgeries and five lines of systemic treatments, including chemo-, checkpoint inhibitor and tyrosine kinase inhibitor therapies. In addition, next-generation sequencing (NGS) analysis and an ex vivo drug-screening analysis were performed on patient-derived tumor cells and the results were implemented into the therapeutic decision-making. Finally, serum carcinoembryonic antigen (CEA) levels proved to be helpful for therapy monitoring during the whole follow-up period.
脐尿管癌（UrC）是一种罕见疾病，由于其局部侵犯膀胱所引起的症状，大多在晚期才得以诊断。鉴于缺乏针对全身治疗的临床试验和指南推荐，在全身治疗的早期阶段，基于分子信息的精准肿瘤学方法对于脐尿管癌而言是一种可行的选择。虽然单病例经验可能为后续决策提供有价值的参考，但关于非标签靶向治疗的充分记录的临床经验仅限于少数患者。在此，我们报告一例31岁女性脐尿管癌患者，该患者接受了包括三次手术和五线全身治疗（包括化疗、检查点抑制剂和酪氨酸激酶抑制剂治疗）在内的强化治疗。此外，对患者来源的肿瘤细胞进行了二代测序（NGS）分析和体外药物筛选分析，并将结果应用于治疗决策。最后，血清癌胚抗原（CEA）水平在整个随访期间被证明有助于治疗监测。
