{"id":"hum0006","version":5,"url":"https://humandbs.dbcls.jp/research/hum0006/v5","datePublished":"2022-08-08","versions":[{"version":1,"datePublished":"2014-01-31"},{"version":2,"datePublished":"2017-06-05"},{"version":3,"datePublished":"2017-09-01"},{"version":4,"datePublished":"2019-02-13"},{"version":5,"datePublished":"2022-08-08"},{"version":6,"datePublished":"2026-06-03"}],"title":{"ja":"脳腫瘍のゲノム・遺伝子解析とその臨床病理学的意義の解明","en":"Genomic and Genetic Analysis of Brain Tumors and Analysis of Their Clinicopathological Significance"},"summary":{"aims":{"ja":"脳腫瘍のゲノム・遺伝子解析とその臨床病理学的意義の解明","en":"The identification of genomic/genetic alterations in brain tumors (gliomas) and analysis of their clinicopathological significance."},"methods":{"ja":"Illumina HiSeq 2000を使用したExome解析、RNA-seq解析、および、メチレーションアレイ解析\nIllumina HiSeq 2500を使用した血管奇形組織由来DNAを用いたターゲットシーケンス解析","en":"Exome sequencing, RNA sequencing and Methylation array were performed. Matched normal DNA was also used for Exome sequencing.\nTargeted DNA sequencing for vascular malformation samples was conducted to investigate somatic mutations."},"targets":{"ja":"アストロサイトーマ6症例の初発時の腫瘍組織、再発時の腫瘍組織、および、末梢血（非腫瘍組織）\nオリゴデンドログリオーマ12症例の初発時の腫瘍組織、再発時の腫瘍組織、および、末梢血（非腫瘍組織）\nオリゴデンドログリオーマ4症例の初発時の2カ所の別の部位の腫瘍組織、および、末梢血（非腫瘍組織）\nグリオーマ（小脳17症例、視床14症例、大脳8症例）の腫瘍組織、および、末梢血（非腫瘍組織）\nグリオーマ94症例の腫瘍組織（初発時、再発時ペアを含む114検体）、および末梢血（非腫瘍組織）\n脳海綿状血管奇形12症例、椎体血管腫1症例、眼窩内海綿状血管奇形3症例の病変組織および末梢血","en":"Surgical specimen obtained from 6 patients with astrocytoma (primary and matched recurrent samples) and paired normal peripheral blood cells (total: 23 samples).\nSurgical specimen obtained from 16 patients with oligodendroglioma (12 primary and matched recurrent samples, 8 samples obtained from 4 patients by multi-sampling)\nSurgical specimen obtained from patients with gliomas (17 patients with diffuse cerebellar glioma, 8 patients with cerebral glioblastoma and 14 patients with thalamic glioma)\nSurgical specimen obtained from 94 patients with gliomas, including primary and matched recurrent samples (total 114 samples) and paired normal blood cells\nTwelve cerebral cavernous malformations, 1 vertebral hemangioma, 3 orbital cavernous malformations, and respective paired peripheral blood samples"},"url":{"ja":null,"en":null}},"listingSummary":{},"releaseNote":{"ja":"このバージョンでは、脳海綿状血管奇形12症例、椎体血管腫1症例、眼窩内海綿状血管奇形3症例の病変組織および末梢血より抽出したDNAを用いた6110遺伝子領域のTarget Capture Sequencing解析の結果をfastqファイルにて提供する。","en":"DNAs extracted from 12 cerebral cavernous malformations, 1 vertebral hemangioma, 3 orbital cavernous malformations and respective paired peripheral blood samples were used for the target capture sequencing analysis. Fastq files are provided."},"dataProviders":[{"name":{"ja":"斉藤 延人","en":"Nobuhito Saito"},"organization":{"name":{"ja":"東京大学 医学部 脳神経外科","en":"Department of Neurosurgery, The University of Tokyo"}}}],"researchProjects":[{"name":{"ja":"次世代がん研究シーズ戦略的育成プログラム/がん臨床シーズ育成グループ","en":"Project for Development of Innovative Research on Cancer Therapeutics (P-DIRECT)"},"url":{"ja":null,"en":null}}],"grants":[{"title":{"ja":"新規血管奇形原因遺伝子による疾患発症メカニズムの解明","en":"Analysis of novel vascular malformation causative gene"},"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":["21H03041"]},{"title":{"ja":"分子プロファイリングによる新規標的同定を通じた難治がん治療法開発/悪性脳腫瘍克服のための新規治療標的及びバイオマーカーの創出","en":"Development of novel therapeutic strategy and biomarker for the treatment of malignant brain tumors"},"agency":{"ja":"日本医療研究開発機構（AMED） 次世代がん研究シーズ戦略的育成プログラム（P-DIRECT）","en":"Project for Development of Innovative Research on Cancer Therapeutics (P-DIRECT), Japan Agency for Medical Research and Development (AMED)"},"grantIds":null},{"title":{"ja":"神経膠腫(グリオーマ)の治療抵抗性に関連した不均一性獲得機構の解明とそれに対応する治療戦略の構築","en":"Analysis of the mechanisms for development of tumor heterogeneity related to treatment resistance of gliomas and discovery of therapeutic strategies"},"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":null}],"relatedPublications":[{"title":"Mutational Analysis Reveals the Origin and Therapy-Driven Evolution of Recurrent Glioma","doi":"https://doi.org/10.1126/science.1239947","datasets":["JGAD000004"]},{"title":"Genetic and epigenetic stability of oligodendrogliomas at recurrence","doi":"https://doi.org/10.1186/s40478-017-0422-z","datasets":["JGAD000106","JGAD000107","JGAD000108"]},{"title":"Distinct molecular profile of diffuse cerebellar gliomas","doi":"https://doi.org/10.1007/s00401-017-1771-1","datasets":["JGAD000112","JGAD000113","JGAD000114"]},{"title":"DNA demethylation is associated with malignant progression of lower-grade gliomas","doi":"https://doi.org/10.1038/s41598-019-38510-0","datasets":["JGAD000215","JGAD000216","JGAD000217","JGAD000218","JGAD000219"]},{"title":"Somatic GJA4 gain-of-function mutation in orbital cavernous venous malformations","doi":"https://doi.org/10.1007/s10456-022-09846-5","datasets":["JGAD000436"]}],"datasets":["JGAD000004","JGAD000106","JGAD000112","JGAD000215","JGAD000218","JGAD000107","JGAD000113","JGAD000216","JGAD000219","JGAD000108","JGAD000114","JGAD000217","JGAD000436"],"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":["JGAD000107","JGAD000113","JGAD000216","JGAD000219"]},{"principalInvestigator":{"en":"Frank Attenello"},"affiliation":{"en":"Department of Neurological Surgery, USC Keck School of Medicine"},"country":{"ja":"アメリカ合衆国","en":"United States"},"researchTitle":{"en":"Examining the role of a novel long noncoding RNA, linc02454, in resistance of glioblastoma to temozolomide"},"periodStart":"2023-04-06","periodEnd":"2026-01-31","datasets":["JGAD000215","JGAD000216","JGAD000217","JGAD000218","JGAD000219"]}]}