Comprehensive genomic profiling of primary bladder mucinous adenocarcinoma, a rare genitourinary cancer: A case report

IF 0.5 Q4 UROLOGY & NEPHROLOGY Urology Case Reports Pub Date : 2024-11-22 DOI:10.1016/j.eucr.2024.102892
Shinkuro Yamamoto , Shingo Ashida , Tomoya Nao , Kaho Murakami , Ryohei Iga , Tsutomu Shimamoto , Hideo Fukuhara , Nobutaka Shimizu , Satoshi Fukata , Atsushi Kurabayashi , Takashi Karashima , Keiji Inoue
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Abstract

Primary bladder mucinous adenocarcinoma is a rare genitourinary cancer. Here, we present the case of a 75-year-old woman where pathological and imaging findings led to the diagnosis of primary bladder mucinous adenocarcinoma. She underwent treatment with paclitaxel–ifosfamide–cisplatin (TIP). After two cycles of TIP therapy, FoundationOne CDx, a comprehensive genomic profiling test, was performed, revealing variants in ATM, SMAD4, BRD4, and NOTCH3. These genomic profiling test results may lead to the development of novel therapeutic agents for primary bladder mucinous adenocarcinoma.
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原发性膀胱粘液腺癌--一种罕见的泌尿生殖系统癌症--的综合基因组图谱分析:病例报告
原发性膀胱粘液腺癌是一种罕见的泌尿生殖系统癌症。在这里,我们介绍了一例 75 岁女性的病例,病理和影像学检查结果显示她被诊断为原发性膀胱粘液腺癌。她接受了紫杉醇-伊福酰胺-顺铂(TIP)治疗。在接受两个周期的 TIP 治疗后,她接受了 FoundationOne CDx 综合基因组图谱检测,结果发现了 ATM、SMAD4、BRD4 和 NOTCH3 的变异。这些基因组分析测试结果可能有助于开发治疗原发性膀胱粘液腺癌的新型药物。
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来源期刊
Urology Case Reports
Urology Case Reports Medicine-Urology
CiteScore
0.90
自引率
20.00%
发文量
325
审稿时长
37 days
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