{"id":"hum0499","version":1,"url":"https://humandbs.dbcls.jp/research/hum0499/v1","datePublished":"2025-04-25","versions":[{"version":1,"datePublished":"2025-04-25"}],"title":{"ja":"骨軟部腫瘍に対するバイオバンク作成および遺伝子発現解析に基づく分子病態の解明とその予後改善を目指した研究","en":"Research aimed at creating a biobank for bone and soft tissue tumors and elucidating the molecular pathology based on gene expression analysis, as well as improving prognosis"},"summary":{"aims":{"ja":"骨や脂肪、神経、血管などの間葉系の組織に発生する悪性骨軟部腫瘍は、発症頻度が全がんにおける1％程度の希少がんである。さらに悪性骨軟部腫瘍は、病理組織学的に非常に複雑に分類されており、良性・悪性を含めて150種類以上の組織型があるため、診断が難しく、適切な治療が行えないこともある。骨軟部腫瘍の治療は手術治療の発達や化学療法・放射線療法などを併せた集学的治療により徐々に改善してきてはいるが、化学療法が奏効しない場合や、遠隔転移を認める場合の予後は依然として不良である。本研究は、骨軟部腫瘍の診断の補助となるようなバイオマーカーの開発や、新規治療法の開発を目指した病態解明を目的としている。","en":"Malignant bone and soft tissue tumors are cancerous diseases that occur in bone and soft tissue, but they only account for around 1% of all cancers. Furthermore, malignant bone and soft tissue tumors are classified in a very complex way based on pathological histology, and there are over 150 types of tissue, including both benign and malignant tumors. As a result, diagnosis is difficult, and there are cases where appropriate treatment cannot be provided. There are many cases of bone and soft tissue tumors with a poor prognosis due to the rarity of the disease, histological diversity, and intractability. The aim of this study is to develop biomarkers to assist in diagnosis and to elucidate the pathology with the aim of developing new treatment methods."},"methods":{"ja":"サンガーシークエンス法","en":"Sanger sequencing"},"targets":{"ja":"肉腫 6症例","en":"Sarcoma 6 cases"},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"配列決定","en":"Sequencing"},"targets":{"ja":"肉腫：6症例\n（日本人）","en":"6 sarcoma\n(Japanese)"},"typeOfData":{"ja":"サンガー法","en":"Sanger-seq"}},"releaseNote":{"ja":"肉腫6症例の末梢血血漿検体由来のcfRNAを対象とした、サンガーシークエンス法による融合遺伝子（EWSR1-FLI1、FUS-DDIT3）の配列データをab1ファイルにて提供する。","en":"cfRNA from 10 plasma samples from 6 sarcoma cases were used for Sanger sequencing analysis about fusion genes (EWSR1-FLI1 and FUS-DDIT3). Ab1 files are provided."},"dataProviders":[{"name":{"ja":"長谷川 延彦","en":"Nobuhiko Hasegawa"},"organization":{"name":{"ja":"順天堂大学 医学部 整形外科学講座","en":"Department of Orthopaedics, Faculty of Medicine, Juntendo University"}}}],"researchProjects":[{"name":{"ja":"骨軟部腫瘍における分子マーカーの開発","en":"Development of molecular markers for bone and soft tissue tumors"},"url":{"ja":null,"en":null}}],"grants":[{"title":{"ja":"骨軟部腫瘍における血液検体を用いた分子マーカーの開発","en":"Development of molecular markers using blood samples in bone and soft tissue tumors"},"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":["22K16721"]},{"title":{"ja":"骨軟部腫瘍における融合遺伝子に着目した治療標的探索とバイオマーカーの開発","en":"Exploration of therapeutic targets and development of biomarkers focusing on fusion genes in bone and soft tissue tumors"},"agency":{"ja":"科学研究費助成事業 国際共同研究加速基金(国際共同研究強化)","en":"KAKENHI Fund for the Promotion of Joint International Research (Fostering Joint International Research)"},"grantIds":["23KK0310"]}],"relatedPublications":[],"datasets":["JGAD000929"],"controlledAccessUsers":[]}