{"id":"hum0550","version":1,"url":"https://humandbs.dbcls.jp/research/hum0550/v1","datePublished":"2025-11-13","versions":[{"version":1,"datePublished":"2025-11-13"}],"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：腎臓がん","en":"Identification of Therapeutic Target Molecules in Urological Tumors by Whole-Genome Sequencing: renal cancer"},"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 nextgeneration sequencing, this study aims to comprehensively identify tumor-specific alterations and novel therapeutic targets through multi-layered genomic analysis."},"methods":{"ja":"腎臓がん患者54名からの腫瘍サンプル125検体を用いたexome-seqをtwistベースで行った。また、腎臓がん患者91名からの腫瘍サンプル91検体に対してNEBベースのRNA-seqを行った。さらに腎臓がん患者18名からの腫瘍サンプル24検体を用いたシングルセルRNA-seqを10xベースで行った。腎臓がん患者16名からの腫瘍サンプル26検体に対しては空間トランスクリプトーム解析を10xベースで行った。","en":"We performed exome sequencing (exome-seq) using the Twist platform on 125 tumor samples obtained from 54 patients with renal cell carcinoma, along with corresponding normal samples. RNA sequencing (RNA-seq) was conducted using the NEB platform on 91 tumor samples from 91 patients with renal cell carcinoma. Furthermore, single-cell RNA sequencing (scRNA-seq) was performed using the 10x Genomics platform on 24 tumor samples obtained from 18 patients with renal cell carcinoma. Spatial transcriptomic analysis was also carried out using the 10x Genomics platform on 26 tumor samples from 16 patients with renal cell carcinoma."},"targets":{"ja":"腎臓がん101症例","en":"Renal cancer 101 cases"},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"配列決定\n発現\n病理画像","en":"Sequencing, Expression profiling, Histological imaging"},"targets":{"ja":"腎臓癌：101症例\n（日本人）","en":"renal cancer: 101 cases\n(Japanese)"},"typeOfData":{"ja":"NGS\n（Exome、RNA-seq、scRNA-seq、Visium Spatial Gene Expression）\n病理画像\nXenium In Situ Gene Expression","en":"NGS\n(Exome, RNA-seq, scRNA-seq, Visium Spatial Gene Expression)\nHistological image\nXenium In Situ Gene Expression"}},"releaseNote":{"ja":"・腎臓がん54症例の腫瘍組織および非腫瘍組織から抽出したDNAを用いた、exome-seq解析データをbamファイルにて提供する。\n・腎臓がん91症例の腫瘍組織から抽出したRNAを用いた、RNA-seq解析データをfastqファイルにて提供する。\n・腎臓がん18症例の腫瘍組織から抽出したRNAを用いた、シングルセルRNA-seq解析データをbarcodes.tsv、features.tsv、matrix.mtxファイルにて提供する。\n・腎臓がん16症例の腫瘍組織を用いた、空間トランスクリプトーム解析（Visium）データをh5ファイルにて提供する。\n・腎臓がん3症例の腫瘍組織を用いた、空間トランスクリプトーム解析（Xenium）データをh5、tif、parquetファイルにて提供する。","en":"- DNAs extracted from tumor tissues and non-tumor tissues of 54 renal cancer patients were used for the exome sequencing analysis. Bam files are provided.\n- RNAs extracted from tumor tissues of 91 renal cancer patients were used for the RNA sequencing analysis. Fastq files are provided.\n- RNAs extracted from tumor tissues of 18 renal cancer patients were used for the single-cell RNA sequencing analysis. Barcodes.tsv, features.tsv and matrix.mtx files are provided.\n- Tumor tissues of 16 renal cancer patients were used for the spatial transcriptomic analysis (Visium). H5 files are provided.\n- Tumor tissues of 3 renal cancer patients were used for the spatial transcriptomic analysis (Xenium). H5, tif and parquet 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":"透析腎がんの時空間的解析による分子基盤解明及び予防戦略開発","en":"Spatial analyses of kidney cancer in hemodialysis patients for innovative screening strategy"},"agency":{"ja":"日本医療研究開発機構（AMED） 革新的がん医療実用化研究事業","en":"Practical Research for Innovative Cancer Control, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP24ck0106948"]}],"relatedPublications":[{"title":"Spatial multiomic analyses reveal carcinogenic pathways in end-stage renal disease","doi":"https://doi.org/10.1158/2159-8290.CD-25-0472","datasets":["JGAD000997"]}],"datasets":["JGAD000997"],"controlledAccessUsers":[]}