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原发性膀胱黏液腺癌的综合基因组分析,一种罕见的泌尿生殖系统癌症:病例报告

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

作者信息

Yamamoto Shinkuro, Ashida Shingo, Nao Tomoya, Murakami Kaho, Iga Ryohei, Shimamoto Tsutomu, Fukuhara Hideo, Shimizu Nobutaka, Fukata Satoshi, Kurabayashi Atsushi, Karashima Takashi, Inoue Keiji

机构信息

Department of Urology, Kochi Medical School, Nankoku, 783-8505, Japan.

Japanese Red Cross Kochi Hospital, Kochi, 780-8562, Japan.

出版信息

Urol Case Rep. 2024 Nov 22;58:102892. doi: 10.1016/j.eucr.2024.102892. eCollection 2025 Jan.

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 , , , and . These genomic profiling test results may lead to the development of novel therapeutic agents for primary bladder mucinous adenocarcinoma.

摘要

原发性膀胱黏液腺癌是一种罕见的泌尿生殖系统癌症。在此,我们报告一例75岁女性病例,其病理和影像学检查结果确诊为原发性膀胱黏液腺癌。她接受了紫杉醇-异环磷酰胺-顺铂(TIP)治疗。在两个周期的TIP治疗后,进行了一项全面基因组分析检测FoundationOne CDx,结果显示在 、 、 和 基因中有变异。这些基因组分析检测结果可能会推动原发性膀胱黏液腺癌新型治疗药物的研发。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/17da/11629251/6f85887997bc/gr1.jpg

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