{"id":"hum0279","version":1,"url":"https://humandbs.dbcls.jp/research/hum0279/v1","datePublished":"2022-09-05","versions":[{"version":1,"datePublished":"2022-09-05"}],"title":{"ja":"ゲノム・エピゲノム解析と免疫組織染色による難治性悪性リンパ腫の層別化と新規治療法の開発","en":"Stratification of refractory malignant lymphoma by genomic/epigenomic analysis and immunohistochemistry and development of novel therapeutic approaches"},"summary":{"aims":{"ja":"びまん性大細胞型B細胞リンパ腫（Diffuse large B-cell lymphoma：DLBCL）は高頻度かつ高悪性度の悪性リンパ腫である。抗CD20抗体併用化学療法の導入により長期生存は60%前後まで改善したものの、いまだ予後不良群も存在する。次世代シーケンサーの普及によって、遺伝子変異の網羅的解析結果を用いたDLBCLの新たな層別化が報告されているが、その手法は煩雑であり、実臨床への応用が容易でない。また、先行研究では、アジア人における解析が充分でないため、アジア人特異的な予後不良因子の層別化における影響は未検討のままである。そこで本研究では、DLBCLのホルマリン固定パラフィン包埋（FFPE）検体について、既存の大規模研究より選択した144遺伝子についてターゲットシーケンスで遺伝子変異の有無を検討し、日本人コホートにおいて分子遺伝学的サブタイプ分類の有用性を検証することを目的とした。","en":"Diffuse large B-cell lymphoma (DLBCL) is a common hematological malignancy. Treatment with standard chemotherapy results in long-term remission in approximately 60% of patients. Whole-exome sequencing studies of large DLBCL cohorts revealed the biological diversity of tumors and facilitated the identification of genetic subtypes based on genetic alterations. Despite the progress facilitated by NGS, genetic classification is difficult to apply in clinical practice because of the complexity of the clustering algorithm. Furthermore, only a few reports included large Asian cohorts. Thus, a genetic overview of Japanese patients with DLBCL is still needed. Thus, in this study, we aimed to establish the clinical application of our simplified genetic classification algorithm in Japanese DLBCL."},"methods":{"ja":"ホルマリン固定パラフィン包埋標本177例及び対応する19例の凍結保存検体から抽出したDNAを用いて、ターゲットシークエンスによる遺伝子変異解析を行う。","en":"Gene mutation analysis by a targeted DNA sequencing was performed using DNA extracted from 177 formalin-fixed paraffin-embedded specimens and 19 matched frozen specimens."},"targets":{"ja":"びまん性大細胞型B細胞リンパ腫177例","en":"177 patients of diffuse large B-cell lymphoma"},"url":{"ja":[{"url":"https://www.ho.chiba-u.ac.jp/dept/hematology/research/clinical/","text":"https://www.ho.chiba-u.ac.jp/dept/hematology/research/clinical/"}],"en":null}},"listingSummary":{"methods":{"ja":"配列決定","en":"Sequencing"},"targets":{"ja":"びまん性大細胞型B細胞リンパ腫：177症例\n（日本人）","en":"177 patients with diffuse large B-cell lymphoma\n(Japanese)"},"typeOfData":{"ja":"NGS\n（Target Capture）","en":"NGS\n(Target Capture)"}},"releaseNote":{"ja":"びまん性大細胞型B細胞リンパ腫177症例のFFPE検体および凍結検体（腫瘍組織）から抽出したDNAを用いた144遺伝子のTarget Capture Sequencing解析データをbamファイルにて提供する。","en":"DNAs extracted from tumor tissues of 177 patients with diffuse large B-cell lymphoma were used for the target capture sequencing analysis. Bam files are provided."},"dataProviders":[{"name":{"ja":"堺田 恵美子","en":"Emiko Sakaida"},"organization":{"name":{"ja":"千葉大学医学部附属病院 血液内科","en":"Department of Hematology, Chiba University Hospital"}}}],"researchProjects":[],"grants":[{"title":{"ja":"DNAメチル化形質によるEBV陽性B細胞性悪性リンパ腫の層別化と新規治療法の開発","en":"Profiling of EBV positive DLBCL by DNA methylation epigenotype"},"agency":{"ja":"科学研究費助成事業 若手研究（B）","en":"KAKENHI Grant-in-Aid for Young Scientists (B)"},"grantIds":["17K17637"]}],"relatedPublications":[{"title":"Genetic subtype classification using a simplified algorithm and mutational characteristics of diffuse large B-cell lymphoma in a Japanese cohort","doi":"https://doi.org/10.1111/bjh.17765","datasets":["JGAD000418"]}],"datasets":["JGAD000418"],"controlledAccessUsers":[]}