{"id":"hum0489","version":1,"url":"https://humandbs.dbcls.jp/research/hum0489/v1","datePublished":"2026-10-27","versions":[{"version":1,"datePublished":"2026-10-27"}],"title":{"ja":"骨軟部肉腫における遺伝子変異スペクトラムの解析","en":"Genetic Mutation Spectrum Analysis in Bone and Soft Tissue Sarcomas"},"summary":{"aims":{"ja":"骨軟部肉腫は難治性の稀少がんである。およそ30%の患者に染色体転座に起因する融合遺伝子形成を認めるが、それ以外の遺伝子変異やゲノム異常に関する理解は進んでいない。本研究では、融合遺伝子陽性骨軟部肉腫の進展・悪性化に重要と考えらえる遺伝子異常を明らかにし、肉腫の病態解析と新たな分子標的治療の開発に資することを目的とする。","en":"Bone and soft tissue sarcomas are rare, incurable cancers. Approximately 30% of patients have fusion gene formation due to chromosomal translocations, but other genetic mutations and genomic abnormalities are not well understood. The aim of this study is to identify genetic abnormalities that may be important in the progression and malignant transformation of fusion gene-positive bone and soft tissue sarcomas and to contribute to the analysis of sarcoma pathogenesis and the development of novel molecularly targeted therapies."},"methods":{"ja":"全エクソン塩基配列解析、RNA塩基配列解析","en":"whole exon sequencing and RNA sequencing"},"targets":{"ja":"・がん研有明病院において、粘液型脂肪肉腫と診断された患者の外科手術切除検体。\nWES：43症例の腫瘍組織43検体\nRNA-seq：72症例の腫瘍組織72検体\n43症例はWESおよびRNA-seqを実施\n・ヒト粘液型脂肪肉腫細胞株（402-91、1955-91、2645-94）\nWES：3検体","en":"- Surgically resected tumors from patients diagnosed with myxoid liposarcoma at the Cancer Institute Hospital of Japanese Foundation For Cancer Research.\nWES: 43 patients (43 tumor tissue samples)\nRNA-seq: 72 patients (72 tumor tissue samples)\nFor 43 cases, both WES and RNA-seq analyses were performed.\n- human myxoid liposarcoma cell lines (402-91、1955-91、2645-94)"},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"配列決定\n発現","en":"Sequencing,\nExpression profiling"},"targets":{"ja":"粘液型脂肪肉腫：72症例\n（日本人）\nヒト粘液型脂肪肉腫細胞株：3検体\n（細胞株）","en":"myxoid liposarcoma: 72cases\n(Japanese)\nヒト粘液型脂肪肉腫細胞株: 3 samples\n(Cell-line)"},"typeOfData":{"ja":"NGS（Exome、RNA-seq）","en":"NGS (Exome, RNA-seq)"}},"releaseNote":{"ja":"粘液型脂肪肉腫43症例の腫瘍組織より抽出したDNAを用いたwhole exome sequencing解析データ、および、上記を含む72症例の腫瘍組織より抽出したRNAを用いたRNA sequencing解析データ、ならびにヒト粘液型脂肪肉腫細胞株3検体より抽出したDNAを用いたwhole exome sequencing解析データをfastqファイルにて提供する。","en":"DNA/RNA extracted from tumor tissues of 72 myxoid liposarcoma patients were used for the whole exome sequencing and RNA sequencing analyses. Also, DNA extracted from 3 myxoid liposarcoma cell-lines were used for the whole exome sequencing. Fastq files are provided."},"dataProviders":[{"name":{"ja":"植田 幸嗣","en":"Koji Ueda"},"organization":{"name":{"ja":"がん研究会 がんプレシジョン医療研究センター 分析生化学研究部","en":"Project for Realization of Personalized Cancer Medicine, Cancer Precision Medicine Center, Japanese Foundation For Cancer Research"}}}],"researchProjects":[],"grants":[{"title":{"ja":"骨軟部腫瘍における診断マーカーの同定と腫瘍概念の再構築を目指した融合遺伝子の探索","en":"Identification of diagnostic biomarker and novel fusion genes of bone and soft tissue sarcoma"},"agency":{"ja":"科学研究費助成事業 基盤研究（A）","en":"KAKENHI Grant-in-Aid for Scientific Research (A)"},"grantIds":["16H02676"]},{"title":{"ja":"ゲノム解析による骨軟部腫瘍の多様性の解明と治療標的・バイオマーカーの探索","en":"Screening of therapeutic targets and biomarkers for bone and soft tissue tumors by multiomics analysis"},"agency":{"ja":"日本医療研究開発機構（AMED）次世代がん医療創生研究事業（P-CREATE）","en":"Project for Cancer Research and Therapeutic Evolution (P-CREATE), Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP21cm0106578"]}],"relatedPublications":[{"title":"Proteogenomic characterization of myxoid liposarcoma reveals molecular features associated with poor prognosis","datasets":["JGAD000909"]}],"datasets":["JGAD000909"],"controlledAccessUsers":[]}