{"id":"hum0473","version":1,"url":"https://humandbs.dbcls.jp/research/hum0473/v1","datePublished":"2025-06-30","versions":[{"version":1,"datePublished":"2025-06-30"}],"title":{"ja":"造血器腫瘍患者の遺伝子解析による発症機序解明研究 / 血縁ドナーの微量残存骨髄液を正常コントロールとした造血器腫瘍特異的分子発現解析","en":"Elucidation of the pathogenesis of hematopoietic neoplasms via genetic analysis / Molecular expression analysis of bone marrow cells from hematopoietic stem cell transplant donors as a normal control"},"summary":{"aims":{"ja":"造血器腫瘍の原因遺伝子変異は病型特異的あるいは非特異的に高頻度に認められ、造血器腫瘍発症機序の主因となっていることは明らかである。しかし、これらの遺伝子変異が単独で造血器腫瘍を発症することはないと考えられており、遺伝子変異の積み重ね、あるいは何らかの抑制機構の破綻など、発症に至るまでにはいくつかの段階を経る必要があることが推測されている。また、同じ病型でも症例ごとに遺伝子変異パターンがまちまちであることも多い。したがって、様々な遺伝子変異から共通する何らかの遺伝子発現異常が導かれ、これが造血器腫瘍発症に直接結びついていく可能性がある。この「共通因子」の同定が最良の分子標的治療開発に重要と考えられる。そこで本研究では、造血器腫瘍患者の遺伝子異常を多角的・網羅的に解析することによってその発症機序を明らかにし、それぞれの病型における「共通因子」を同定して新規分子標的治療開発への貢献を目指す。","en":"Genetic mutations in hematopoietic neoplasms, seen in disease-specific and non-specific ways, are key drivers in pathogenesis. Typically, these mutations alone don't cause neoplasms; rather, multiple mutations or breakdowns in regulatory mechanisms occur, progressing the disease through stages. Genetic mutation patterns vary even within subtypes, suggesting shared gene expression abnormalities from different mutations may drive neoplasm development. Identifying these \"common factors\" is vital for effective molecular-targeted therapy development. Our study aims to elucidate neoplasm pathogenesis by analyzing patient genetic abnormalities, pinpointing \"common factors\" in each subtype for novel targeted therapy development."},"methods":{"ja":"RNAシーケンス解析","en":"RNA sequencing"},"targets":{"ja":"骨髄異形成症候群（Myelodysplastic syndromes；MDS）57症例および健常者5名（計62名分）の骨髄CD34陽性細胞","en":"Bone marrow CD34-positive cells from 57 patients with myelodysplastic syndromes (MDS) and 5 healthy individuals (62 participants in total)"},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"配列決定","en":"Sequencing"},"targets":{"ja":"骨髄異形成症候群：57症例\n対照健常者：5名\n（日本人）","en":"Myelodysplastic syndromes: 57 cases\n5 healthy individuals\n(Japanese)"},"typeOfData":{"ja":"NGS\n（RNA-seq）","en":"NGS\n(RNA-seq)"}},"releaseNote":{"ja":"骨髄異形成症候群（MDS）57症例および健常者5名（計62名）の骨髄CD34陽性細胞から抽出したRNAを用いたRNA-seq解析データをfastqファイルにて提供する。","en":"RNAs extracted from bone marrow CD34-positive cells from 57 patients with myelodysplastic syndromes and 5 healthy individuals were used for RNA-sequencing analysis. Fastq files are provided."},"dataProviders":[{"name":{"ja":"原田 結花","en":"Yuka Harada"},"organization":{"name":{"ja":"東京都立駒込病院 臨床研究・治験センター","en":"Clinical Research and Trial Center, Tokyo Metropolitan Cancer and Infectious Diseases Center Komagome Hospital"}}}],"researchProjects":[{"name":{"ja":"造血器腫瘍患者の遺伝子解析による発症機序解明研究","en":"Elucidating the Pathogenesis of Hematological Malignancies via Genetic Analysis"},"url":{"ja":null,"en":null}}],"grants":[{"title":{"ja":"AI学習を用いた治療選択・予後予測に直結する包括的な骨髄系疾患診断法の確立","en":"Developing a Comprehensive Diagnostic Approach for Myeloid Disorders Using AI to Guide Treatment Selection and Prognosis Prediction"},"agency":{"ja":"2022年度都立病院臨床研究（プロジェクト研究）","en":"Clinical Research Fund of Tokyo Metropolitan Government"},"grantIds":["R040301001"]},{"title":{"ja":"ミトコンドリアダイナミックス異常に基づく骨髄異形成症候群診断法の確立","en":"Developing a Diagnostic Approach for Myelodysplastic Syndromes Based on Abnormal Mitochondrial Dynamics"},"agency":{"ja":"2023年度都立病院臨床研究（特別研究）","en":"Clinical Research Fund of Tokyo Metropolitan Government"},"grantIds":["R050401011"]},{"title":{"ja":"遺伝子パネル検査を用いた骨髄系腫瘍診断システムの開発と検証","en":"Molecular diagnosis of myeloid neoplasms using targeted gene panel"},"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":["JP20K07840"]},{"title":{"ja":"血液がん発症におけるミトコンドリア断片化と炎症性シグナル経路活性化のクロストーク","en":"Chronic Inflammation via cGAS-STING Activation Triggered by Mitochondrial Fragmentation in Myelodysplastic Syndromes"},"agency":{"ja":"科学研究費助成事業 基盤研究（B）","en":"KAKENHI Grant-in-Aid for Scientific Research (B)"},"grantIds":["JP22H02905"]},{"title":{"ja":"骨髄異形成症候群/骨髄不全症の高精度鑑別診断システムの開発","en":"Development of a High-Precision Diagnostic System for Differentiating Myelodysplastic Syndromes and Bone Marrow Failure Syndromes"},"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":["JP23K06899"]}],"relatedPublications":[{"title":"Unraveling the impact of crizotinib to promote megakaryopoiesis for alleviating thrombocytopenia in myelodysplastic neoplasms","doi":"https://doi.org/10.1038/s41375-025-02729-w","datasets":["JGAD000857"]}],"datasets":["JGAD000857"],"controlledAccessUsers":[]}