{"id":"hum0318","version":1,"url":"https://humandbs.dbcls.jp/research/hum0318/v1","datePublished":"2022-03-09","versions":[{"version":1,"datePublished":"2022-03-09"}],"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 a 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":"臨床経過中の3つの異なる時点で収集された患者の骨髄検体からDNAを抽出し、TruSight MyeloidPanel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を検討した。生殖細胞系列コントロールとして口腔粘膜上皮細胞も併せて解析した。","en":"The patient's bone marrow (BM) samples were collected at three different time points during the clinical course. NGS was performed using extracted DNA from each BM sample via the TruSight Myeloid Panel on the MiSeq platform (Illumina). Oral epithelial cells were collected from buccal swabs served as a germline control."},"targets":{"ja":"B細胞性急性リンパ芽球性白血病（B-ALL）1症例","en":"Bone marrow and oral mucosa samples from one B-cell acute lymphoblastic leukemia (B-ALL) patient"},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"配列決定","en":"Sequencing"},"targets":{"ja":"B細胞性急性リンパ芽球性白血病（B-ALL）：1症例\n（日本人）","en":"B-ALL: 1 case\n(Japanese)"},"typeOfData":{"ja":"NGS\n（Target Capture）","en":"NGS\n(Target Capture)"}},"releaseNote":{"ja":"臨床経過中の異なる3点で収集したB細胞性急性リンパ芽球性白血病（B-ALL）1症例の骨髄（3検体）および口腔粘膜（1検体）より抽出したDNAを用いたTarget Capture Sequencing解析データ（fastq）を提供する。","en":"DNAs extracted from bone marrow and oral mucosa samples of a B-ALL patient were used for the target capture sequencing analysis. Fastq and vcf 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":"Repeated Lineage Switches in an Elderly Case of Refractory B-Cell Acute Lymphoblastic Leukemia With MLL Gene Amplification: A Case Report and Literature Review","doi":"https://doi.org/10.3389/fonc.2022.799982","datasets":["JGAD000600"]}],"datasets":["JGAD000600"],"controlledAccessUsers":[]}