{"id":"hum0210","version":1,"url":"https://humandbs.dbcls.jp/research/hum0210/v1","datePublished":"2020-04-06","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":"急性骨髄性白血病と縦隔胚細胞腫瘍の合併症例の遺伝学的な病態解明","en":"Elucidation of genomic pathology of a patient with concomitant acute myeloid leukemia and mediastinal germ cell tumor"},"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。","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."},"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","en":"Patient with concomitant acute myeloid leukemia and mediastinal germ cell tumor"},"url":{"ja":null,"en":null}},"listingSummary":{},"releaseNote":{"ja":"急性骨髄性白血病と縦隔胚細胞腫瘍の合併症1症例の骨髄穿刺による骨髄液の腫瘍細胞を含む単核球分画および縦隔胚細胞腫瘍の腫瘍組織、並びに口腔粘膜（非腫瘍組織）から抽出したDNAを用いた全エクソームシークエンス解析の結果をbamファイルにて提供する。SureSelect Human All Exon v6によりDNAライブラリを作成し、NextSeq 500（Illumina）にて平均長150塩基を解読した（paired-end）。","en":"DNAs extracted from acute myeloid leukemia cells, mediastinal germ cell tumor cells, and normal buccal cells were used for the whole exome sequencing analysis. DNA libraries were established with the SureSelect Human All Exon v6 kit and sequenced by Illumina NextSeq 500 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":[],"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"]}],"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"]}],"datasets":["JGAD000297"],"controlledAccessUsers":[]}