{"id":"hum0315","version":1,"url":"https://humandbs.dbcls.jp/research/hum0315/v1","datePublished":"2022-01-14","versions":[{"version":1,"datePublished":"2022-01-14"},{"version":2,"datePublished":"2022-07-28"}],"title":{"ja":"造血器腫瘍における遺伝子異常の網羅的解析","en":"Comprehensive analysis of genetic alterations in hematological malignancies"},"summary":{"aims":{"ja":"次世代シーケンサーを用いた種々の遺伝子解析技術により、KMT2A遺伝子再構成陽性乳児急性リンパ性白血病の発症の原因となる遺伝子異常をゲノムワイドに解析する。","en":"To explore genetic alteratoins in KMT2A-rearranged infant acute lymphoblastic leukemia, we performed genome wide analyses using next generation sequencing technologies."},"methods":{"ja":"患者の白血病細胞から抽出したDNA/RNAを用いたRNAシーケンス解析・メチル化アレイ解析・エクソームシーケンス解析・シングルセルRNAシーケンス解析、Target Capture シーケンス解析、ならびに、患者由来細胞株検体から抽出したDNA/RNAを用いたChIPシーケンス解析・RNAシーケンス解析を実施。それぞれの解析により得られたデータを統合的に解析した。","en":"A total of 84 infants with KMT2A-r ALL were characterized by RNA sequencing, methylation array, and whole exome and targeted deep sequencing. Single-cell RNA sequencing analysis was performed in two cases. ChIP-seq and RNA sequencing were performed in three cell lines derived from infants with KMT2A-r ALL."},"targets":{"ja":"乳児期発症のKMT2A遺伝子再構成陽性急性リンパ性白血病 84症例、および乳児KMT2A遺伝子再構成陽性急性リンパ性白血病由来細胞株 3検体（84症例とは異なる症例の白血病細胞から樹立）","en":"84 infants with KMT2A-rearranged acute lymphoblastic leukemia, and 3 cell lines derived from infants with KMT2A-rearranged acute lymphoblastic leukemia"},"url":{"ja":null,"en":null}},"listingSummary":{},"releaseNote":{"ja":"乳児期発症のKMT2A遺伝子再構成陽性急性リンパ性白血病 84症例の白血病細胞および正常血液細胞より抽出したDNA/RNAを用いたWES、RNA-seq、scRNA-seq、メチル化アレイ解析データ、ならびに、乳児KMT2A遺伝子再構成陽性急性リンパ性白血病由来細胞株 3検体より抽出したDNA/RNAを用いたRNA-seq、ChIP-seq解析データをbam、idat、bw、csvファイルにて提供する。","en":"DNAs/RNAs were extracted from leukemia cells and normal blood cells from total 84 infants with KMT2A-rearranged acute lymphoblastic leukemia, and 3 cell lines derived from infants with KMT2A-rearranged acute lymphoblastic leukemia. WES, RNA-seq, scRNA-seq, ChIP-seq and methylation array analysis were performed. Bam, idat, bw and csv files are provided."},"dataProviders":[{"name":{"ja":"滝田 順子","en":"Junko Takita"},"organization":{"name":{"ja":"京都大学 小児科","en":"Department of Pediatrics, Graduate School of Medicine, Kyoto University"}}}],"researchProjects":[],"grants":[{"title":{"ja":"分子プロファイリングを基盤とした小児期からAYA世代に発症する難治がんの新規治療法 の開発","en":"Development for novel therapeutic stratagies of intractable cancers in children and adolescent and young adult using molecular profilings"},"agency":{"ja":"日本医療研究開発機構（AMED） 次世代がん医療創生研究事業（P-CREATE）","en":"Project for Cancer Research and Therapeutic Evolution (P-CREATE), Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP16cm0106509"]},{"title":{"ja":"マルチオミックス情報を基盤とした難治性小児がんに対する新規克服法の開発","en":"Development for novel therapeutic stratagies of intractable pediatric cancers based on the multi-omics analysis"},"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":["17H04224"]},{"title":{"ja":"小児がんにおける遺伝学的高発がん感受性の機序とクローン進化の統合的解析","en":"Integrated analysis of mechanisms of genetic susceptibility and clonal evolution in pediatric cancers"},"agency":{"ja":"科学研究費助成事業 基盤研究（A）","en":"KAKENHI Grant-in-Aid for Scientific Research (A)"},"grantIds":["20H00528"]}],"relatedPublications":[{"title":"Multi-omics analysis defines highly refractory RAS burdened immature subgroup of infant acute lymphoblastic leukemia","doi":"https://doi.org/10.1038/s41467-022-32266-4","datasets":["JGAD000500"]}],"datasets":["JGAD000500"],"controlledAccessUsers":[{"principalInvestigator":{"ja":"浜田 道昭","en":"Michiaki Hamada"},"affiliation":{"ja":"浜田研究室, 理工学術院, 早稲田大学","en":"Hamada Laboratory, Faculty of Science and Engineering, Waseda University"},"country":{"ja":"日本","en":"Japan"},"researchTitle":{"ja":"RNA標的創薬データベースの構築","en":"Construction of RNA-targeted Drug Discovery Database"},"periodStart":"2023-01-05","periodEnd":"2027-10-31","datasets":["JGAD000500"]}]}