{"id":"hum0531","version":1,"url":"https://humandbs.dbcls.jp/research/hum0531/v1","datePublished":"2025-11-11","versions":[{"version":1,"datePublished":"2025-11-11"}],"title":{"ja":"全ゲノムシークエンスによる泌尿器腫瘍の治療標的分子の同定","en":"Identification of Therapeutic Target Molecules in Urological Tumors by Whole-Genome Sequencing"},"summary":{"aims":{"ja":"泌尿器腫瘍（前立腺がん・腎がん・膀胱がんなど）は増加傾向にあり、後天的ゲノム異常が発症に関与している。従来の遺伝子異常のみでは発がん過程を十分に説明できず、構造異常や微小環境の影響も注目されている。近年の次世代シークエンサーの進展により、全ゲノム・エクソーム・RNA・シングルセル解析が可能となり、腫瘍特異的な変化の網羅的同定が可能となった。本研究では、泌尿器腫瘍における体細胞変異の解明を目的に、正常細胞との比較を含めた網羅的ゲノム解析を行い、新たな原因分子や治療標的の探索を目指す。","en":"Urological malignancies, including prostate, kidney, and bladder cancers, are increasing, with somatic genomic alterations playing a key role. Traditional analyses are insufficient to fully explain tumorigenesis. Using next-generation sequencing, this study aims to comprehensively identify tumor-specific alterations and novel therapeutic targets through multi-layered genomic analysis."},"methods":{"ja":"NOIR-SS法を用いたターゲットパネル解析を実施。腫瘍組織ではTP53、FGFR3、TERT、KRAS/HRASのホットスポット変異を同定し、血漿cfDNAでは同一変異を対象としたtumor-informed型解析を行った。","en":"Targeted panel analysis using the NOIR-SS method was performed on formalin-fixed paraffin-embedded (FFPE) tumor tissues from 15 patients with advanced urothelial carcinoma and identified somatic mutations. Plasma cfDNA (50 samples) from the same patients was analyzed using a tumor-informed approach, focusing on the mutations identified in the corresponding tumor tissues."},"targets":{"ja":"進行性尿路上皮がん15症例 腫瘍組織（FFPE、15検体）、血漿cfDNA（50検体）","en":"Advanced urothelial carcinoma 15 cases"},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"配列決定","en":"Sequencing"},"targets":{"ja":"進行性尿路上皮癌：15症例\n（日本人）","en":"advanced urothelial carcinoma: 15 casea\n(Japanese)"},"typeOfData":{"ja":"NGS\n（Amplicon-seq）","en":"NGS\n(Amplicon-seq)"}},"releaseNote":{"ja":"進行性尿路上皮がん15症例の腫瘍組織（FFPE）から抽出したDNAおよび血漿cfDNAを用いた、TP53、FGFR3、TERT、KRAS/HRASのホットスポット変異のAmplicon Sequencing解析データをfastqファイルにて提供する。","en":"DNAs extracted from tumor tissues and plasma cfDNA of 15 advanced urothelial carcinoma patients were used for the amplicon sequencing analysis. Fastq files are provided."},"dataProviders":[{"name":{"ja":"藤井 陽一","en":"Yoichi Fujii"},"organization":{"name":{"ja":"東京大学 泌尿器科","en":"Department of Urology, The University of Tokyo Graduate School of Medicine"}}}],"researchProjects":[],"grants":[{"title":{"ja":"NOIR-SSを用いた淡明細胞型腎癌におけるctDNAの定量と背景因子の解明","en":"Quantification of ctDNA and Identification of Background Factors in Clear Cell Renal Cell Carcinoma Using NOIR-SS"},"agency":{"ja":"科学研究費助成事業 基盤研究（C）","en":"KAKENHI Grant-in-Aid for Scientific Research (C)"},"grantIds":["23K08731"]}],"relatedPublications":[{"title":"High Sensitivity ctDNA Analysis Using a Novel Panel and NOIR-SS Technology for Monitoring Advanced Urothelial Carcinoma","doi":"https://doi.org/10.1002/cam4.72045","datasets":["JGAD000978"]}],"datasets":["JGAD000978"],"controlledAccessUsers":[]}