{"id":"hum0210","version":2,"url":"https://humandbs.dbcls.jp/research/hum0210/v2","datePublished":"2026-07-30","versions":[{"version":1,"datePublished":"2020-04-06"},{"version":2,"datePublished":"2026-07-30"}],"title":{"ja":"造血器腫瘍における遺伝子異常の網羅的解析","en":"Comprehensive genomic analysis of hematological malignancies"},"summary":{"aims":{"ja":"造血器腫瘍における遺伝子異常の網羅的解析を行い、疾患モデルを用いた薬剤応答性の解析を含め、分子病態を明らかにし、治療成績の向上に資する","en":"To perform comprehensive genomic analysis of hematological malignancies, including drug response analysis using disease models, to elucidate molecular pathogenesis and contribute to improved treatment outcomes."},"methods":{"ja":"自己正常口腔細胞を対照として、急性骨髄性白血病と縦隔胚細胞腫瘍の両腫瘍部位の全エクソーム解析を行い、腫瘍細胞に生じている体細胞変異を解析する。成人T細胞白血病リンパ腫患者5名から1モデルずつ作製したPDX 5モデル（vehicle群、MALT1阻害薬CRD-1441551投与群、各n=3）から腫瘍細胞を採取し、RNA-seq解析を行った。","en":"Whole exome sequencing was performed for both acute myeloid leukemia cells and mediastinal germ cell tumor cells, and somatic mutations of both tumor cells were identified, using normal buccal cells as a control. RNA-seq was performed for tumour cells harvested from 5 adult T-cell leukemia/lymphoma PDX models (vehicle and MALT1 inhibitor CRD-1441551-treated, n=3 per condition)."},"targets":{"ja":"急性骨髄性白血病と縦隔胚細胞腫瘍の合併症例1名、成人T細胞白血病リンパ腫患者5名から1モデルずつ作製したPDX 5モデル","en":"Patient with concomitant acute myeloid leukemia and mediastinal germ cell tumor, 5 PDX models of adult T-cell leukemia/lymphoma, each established from a separate patient (one model per patient)."},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"配列決定\n発現","en":"Sequencing, Expression profiling"},"targets":{"ja":"急性骨髄性白血病と縦隔胚細胞腫瘍の合併症例：1症例\n成人T細胞白血病リンパ腫：5症例\n（日本人）","en":"1 patient with concomitant acute myeloid leukemia and mediastinal germ cell tumor\n5 patients with adult T-cell leukemia/lymphoma\n(Japanese)"},"typeOfData":{"ja":"NGS\n（Exome、RNA-seq）","en":"NGS\n(Exome, RNA-seq)"}},"releaseNote":{"ja":"成人T細胞白血病リンパ腫5症例から1モデルずつ作製したPDX 5モデルから採取した腫瘍細胞より抽出したRNAを用いたRNA-seq解析の結果をbamファイルにて提供する。NEBNext Ultra RNA Library Prep KitによりRNAライブラリを作成し、DNBSEQ-G400（MGI Tech）にて平均長150塩基を解読した（paired-end）。","en":"RNAs extracted from tumour cells harvested from 5 adult T-cell leukemia/lymphoma PDX models were used for the RNA-seq analysis. RNA libraries were established with the NEBNext Ultra RNA Library Prep Kit and sequenced by DNBSEQ-G400 (MGI Tech) platform (paired-end; 150 bp). Bam files are provided."},"dataProviders":[{"name":{"ja":"下田 和哉","en":"Kazuya Shimoda"},"organization":{"name":{"ja":"宮崎大学医学部 内科学講座 消化器血液学分野","en":"Division of Gastroenterology and Hematology, Department of Internal Medicine, Faculty of Medicine, University of Miyazaki"}}}],"researchProjects":[{"name":{"ja":null,"en":null},"url":{"ja":[{"url":"http://www.med.miyazaki-u.ac.jp/home/2nai/","text":"http://www.med.miyazaki-u.ac.jp/home/2nai/"}],"en":null}}],"grants":[{"title":{"ja":"造血器腫瘍における個別化医療の実現を目指した遺伝子解析パネルの開発","en":"Development of a comprehensive genomic profiling assay for hematological malignancies."},"agency":{"ja":"国立がん研究センター研究開発費","en":"National Cancer Center Research and Development Funds"},"grantIds":["30-A-1"]},{"title":{"ja":"血液腫瘍の発症ハイリスク群同定法の確立","en":"Establishment of a method to identify high-risk groups for the development of hematological tumors."},"agency":{"ja":"宮崎大学医学部附属病院臨床研究支援経費","en":"Grant-in-Aid for Clinical Research from University of Miyazaki Hospital"},"grantIds":["30-GH-3"]},{"title":{"ja":"成人T細胞白血病リンパ腫に対する新規テーラーメイド治療","en":"Novel Taylor-made therapy for adult T-cell leukemia/lymphoma"},"agency":{"ja":"日本医療研究開発機構（AMED） 医療分野研究成果展開事業","en":"Medical Research and Development Programs Focused on Technology Transfers: Development of Advanced Measurement and Analysis Systems (AMED-SENTAN), Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP18im0210102"]},{"title":{"ja":"成人T細胞白血病・リンパ腫(ATL)最適化医療の確立とハイリスクキャリアの同定","en":"Establishment of precision medicine for ATL and identification of high risk HTLV-1 carriers"},"agency":{"ja":"日本医療研究開発機構（AMED） 革新的がん医療実用化研究事業","en":"Practical Research for Innovative Cancer Control, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP19ck0106254"]},{"title":{"ja":"難治性リンパ腫に対するMALT1阻害剤の開発","en":"Development of MALT1 inhibitor for intractable lymphomas"},"agency":{"ja":"日本医療研究開発機構（AMED） 革新的がん医療実用化研究事業","en":"Practical Research for Innovative Cancer Control, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP20ck0106409"]},{"title":{"ja":"遺伝子異常の全貌とクローン構造の理解に基づくATL個別化診療の確立","en":"Establishment of personalized medicine for ATL based on the understanding of the genomic landscape and clonal structure"},"agency":{"ja":"日本医療研究開発機構（AMED） 革新的がん医療実用化研究事業","en":"Practical Research for Innovative Cancer Control, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP22ck0106538"]},{"title":{"ja":"ATL新規治療標的同定と、個別化医療への展開","en":"Identification of novel therapeutic targets and development of personalized medicine for ATL"},"agency":{"ja":"日本医療研究開発機構（AMED） 革新的がん医療実用化研究事業","en":"Practical Research for Innovative Cancer Control, Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP23ck0106789"]},{"title":{"ja":"ATL発症マウスモデルの作成と腫瘍生存シグナルの多様性を考慮した精密医療の確立","en":"Development of an ATL mouse model and the establishment of precision medicine that accounts for the diversity of tumor survival signals"},"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":["23K07840"]},{"title":{"ja":"環境細胞との相互作用によるATL発症機序の解明と、分子脆弱性に基づく治療法開発","en":"Elucidation of the mechanism of ATL development through interactions with microenvironmental cells, and development of therapeutic strategies based on molecular vulnerabilities"},"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":["26K02444"]}],"relatedPublications":[{"title":"TP53 and PTEN mutations were shared in concurrent germ cell tumor and acute megakaryoblastic leukemia.","doi":"https://doi.org/10.1186/s12885-019-6497-0","datasets":["JGAD000297"]},{"title":"The requirement of MALT1 activity for the growth of adult T-cell leukemia/lymphoma","doi":"https://doi.org/10.1016/j.isci.2026.116850","datasets":["JGAD001065"]}],"datasets":["JGAD000297","JGAD001065"],"controlledAccessUsers":[]}