{"id":"hum0367","version":1,"url":"https://humandbs.dbcls.jp/research/hum0367/v1","datePublished":"2021-09-21","versions":[{"version":1,"datePublished":"2021-09-21"}],"title":{"ja":"血液疾患のゲノム解析研究","en":"Clinical sequence of hematological malignancy"},"summary":{"aims":{"ja":"白血病に代表される造血器腫瘍は、未分化血液細胞にゲノムならびにエピゲノムの構造的・機能的異常が集積した結果発症する。しかしこれらの発生機序や発症に至る過程の詳細には未解明な点が多く、発症メカニズムに根ざした根本的治療法は確立されていない。そこで本研究では、血液疾患の病態形成に関わるゲノムならびにエピゲノムの異常を網羅的ゲノム解析の手法を用いて明らかにするとともに、その結果にもとづいて血液疾患の正確な診断、創薬に繋がる鍵分子を探索する事を目的とする。","en":"Hematopoietic malignancies such as leukemia develop as a result of the accumulation of structural and functional abnormalities in the genome and epigenome in the originating undifferentiated hematopoietic stem and progenitor cells. However, the details of the pathogenesis and the processes leading to the onset of these disorders remain unresolved, and fundamental treatments based on the pathogenic mechanisms have not been established. In this study, we aim to clarify the genomic and epigenomic abnormalities involved in the pathogenesis of hematological diseases using comprehensive genomic analysis and to search for key molecules that will lead to accurate diagnosis and drug discovery for hematological diseases based on the mechanisms."},"methods":{"ja":"診断時に採取した骨髄検体（BM）およびリンパ節検体（LN）から抽出したDNAを対象に、Human Myeloid Neoplasms QIAseq Targeted DNA Panelを使用した骨髄性造血器腫瘍に関連する遺伝子変異の有無の検討。","en":"DNAs extracted from bone marrow (BM) and lymph node (LN) samples at the time of diagnosis were subjected to a target capture sequencing analysis by using the Human Myeloid Neoplasms QIAseq Targeted DNA Panel."},"targets":{"ja":"ランゲルハンス細胞組織球症（Langerhans cell histiocytosis：LCH）1症例","en":"Langerhans cell histiocytosis (LCH)"},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"配列決定","en":"Sequencing"},"targets":{"ja":"ランゲルハンス細胞組織球症：1症例\n（日本人）","en":"langerhans cell histiocytosis: 1 case\n(Japanese)"},"typeOfData":{"ja":"NGS\n（Target Capture）","en":"NGS\n(Target Capture)"}},"releaseNote":{"ja":"ランゲルハンス細胞組織球症1症例の骨髄およびリンパ節から抽出したDNAを対象に、Human Myeloid Neoplasms QIAseq Targeted DNA Panelを使用したTarget Capture Sequencing解析データをfastqファイルにて提供する。","en":"DNAs extracted from bone marrow and lymph node of a patient with Langerhans cell histiocytosis were used for the target capture sequencing analysis (Human Myeloid Neoplasms QIAseq Targeted DNA Panel). Fastq files are provided."},"dataProviders":[{"name":{"ja":"東條 有伸","en":"Arinobu Tojo"},"organization":{"name":{"ja":"東京大学 医科学研究所附属病院 血液腫瘍内科","en":"Department of Hematology/Oncology, Institute of Medical Science, University of Tokyo"}}}],"researchProjects":[],"grants":[],"relatedPublications":[{"title":"Case report: Common clonal origin of concurrent langerhans cell histiocytosis and acute myeloid leukemia","doi":"https://doi.org/10.3389/fonc.2022.974307","datasets":["JGAD000680"]}],"datasets":["JGAD000680"],"controlledAccessUsers":[]}