{"id":"hum0401","version":3,"url":"https://humandbs.dbcls.jp/research/hum0401/v3","datePublished":"2025-11-26","versions":[{"version":1,"datePublished":"2023-06-29"},{"version":2,"datePublished":"2025-10-27"},{"version":3,"datePublished":"2025-11-26"}],"title":{"ja":"創薬をめざした新規骨・軟部肉腫細胞株および疾患モデル動物の開発","en":"Development of cell lines and mouse models of bone and soft tissue sarcoma to establish novel treatment"},"summary":{"aims":{"ja":"骨軟部腫瘍は、がん腫に比べ発症頻度が低く手術以外に有効な治療法がない希少難治がんに分類される疾患群で、新規治療法の開発が著しく遅れている。適切な動物モデルは皆無で薬剤開発へ向けた研究材料となる生物資源に乏しい。本研究は、再現性・利便性・経済性に秀でた質の高い肉腫生物資源の整備を目的とし、臨床材料から種々の骨軟部肉腫細胞株の樹立および実験動物モデルの構築を行い、その整備作業を通じて、肉腫がん化機構の解明および新規の創薬に取り組んでいる。","en":"Sarcomas are classified as rare cancers, that is, cancers with an incidence of 6/100000 patients per year. The prognosis of rare cancers, including sarcomas, is poorer than that of common cancers because of the lack of effective treatment. One of the reasons is that the biological resources of sarcomas are not sufficient for advanced research. Therefore, we are establishing several types of sarcomas recapitulating biological characteristics of them including cell lines, organoids, and mouse models in order to develop effective novel treatment against sarcomas."},"methods":{"ja":"・悪性骨巨細胞腫腫瘍組織および同患者正常筋組織よりRNA・DNAを採取し、RNAシークエンス、全エクソームシークエンス解析を次世代シークエンサーにて実施した。\n・軟骨肉腫2症例の腫瘍組織1検体、同患者正常筋組織1検体、腫瘍細胞をAir-liquid interface法で培養後NSGマウスに移植し形成した腫瘍組織（ODX）1検体ずつ、計6検体についてRNAシークエンス解析を実施した。また、腫瘍組織およびODX 1検体ずつ、計4検体について全エクソーム解析を実施した。\n・滑膜肉腫3症例、組織球肉腫1症例の腫瘍細胞および正常筋組織、ならびに、腫瘍細胞から樹立したオルガノイドをNSGマウスに移植し形成した腫瘍組織（ODX）各1検体（組織球肉腫由来ODXのみ2検体）、計13検体についてRNAシークエンス解析を実施した。また、組織球肉腫1症例の腫瘍組織、正常筋組織、ODX各1検体ずつ、計3検体について全エクソーム解析を実施した。","en":"RNA sequencing, Whole-exome sequencing"},"targets":{"ja":"悪性骨巨細胞腫1症例、軟骨肉腫2症例、滑膜肉腫3症例、組織球肉腫1症例","en":"giant cell tumor of bone: 1 case, chondrosarcoma: 2 cases, synovial sarcoma: 3 cases, histiocytic sarcoma: 1 case"},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"配列決定\n発現","en":"Sequencing, Expression profiling"},"targets":{"ja":"悪性骨巨細胞腫：1症例\n軟骨肉腫：2症例\n滑膜肉腫：3症例\n組織球肉腫：1症例\n（日本人）","en":"giant cell tumor of bone: 1 case\nchondrosarcoma: 2 cases\nsynovial sarcoma: 3 cases\nhistiocytic sarcoma: 1 case\n(Japanese)"},"typeOfData":{"ja":"NGS\n（Exome、RNA-seq）","en":"NGS\n(Exome, RNA-seq)"}},"releaseNote":{"ja":"滑膜肉腫3症例、組織球肉腫1症例の腫瘍組織・正常筋組織・ODXより抽出したDNA/RNAを用いたWES/RNA-seq解析データをfastqファイルにて提供する。","en":"DNA/RNAs extracted from normal and tumor tissues of three synovial sarcoma patients and a histiocytic sarcoma patient were used for the whole exome sequencing and RNA sequencing analyses. Fastq files are provided."},"dataProviders":[{"name":{"ja":"若松 透","en":"Toru Wakamatsu"},"organization":{"name":{"ja":"大阪国際がんセンター 整形外科","en":"Department of Musculoskeletal Oncology Service, Osaka International Cancer Institute"}}}],"researchProjects":[],"grants":[{"title":{"ja":"新規治療開発を目指した肉腫由来オルガノイドパネルの構築","en":"Development of sarcoma organoid panel for novel treatment"},"agency":{"ja":"科学研究費助成事業 若手研究","en":"KAKENHI Grant-in-Aid for Early-Career Scientists"},"grantIds":["20K18048"]},{"title":{"ja":"肉腫オルガノイドを用いた新規治療法の開発","en":"Development of novel therapeutic strategies for sarcomas using patient-derived organoid models"},"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":["23K08600"]}],"relatedPublications":[{"title":"Genetic characterization of a novel organoid from human malignant giant-cell tumor","doi":"https://doi.org/10.1016/j.jbo.2023.100486","datasets":["JGAD000747"]},{"title":"Establishment of human histiocytic sarcoma organoids dependent on the SHH/YAP pathway","doi":"https://doi.org/10.1007/s13577-025-01308-6","datasets":["JGAD000949"]},{"title":"Chondrosarcoma Organoids Reveal Targetable SHH Pathway Activation via PTCH1 Alterations","doi":"https://doi.org/10.21203/rs.3.rs-7826834/v1","datasets":["JGAD000976"]},{"title":"Development of synovial sarcoma organoids exhibiting ferroptosis resistance despite low malic enzyme 1 expression","doi":"https://doi.org/10.21203/rs.3.rs-6871133/v1","datasets":["JGAD000948"]}],"datasets":["JGAD000747","JGAD000976","JGAD000949","JGAD000948"],"controlledAccessUsers":[]}