{"id":"hum0362","version":1,"url":"https://humandbs.dbcls.jp/research/hum0362/v1","datePublished":"2025-04-01","versions":[{"version":1,"datePublished":"2025-04-01"}],"title":{"ja":"肺腫瘍、胸腺腫瘍患者の臨床検体（組織や血液など）を用いたゲノムプロファイリングに関する研究","en":"The study on genomic profiling using clinical specimens (tissue, blood, etc.) form patients with lung and thymic tumors"},"summary":{"aims":{"ja":"本研究では、①ドライバー変異の同定や遺伝子プロファイリングによる分類、治療効果を予測するバイオマーカーや再発・転移時のゲノムの変化の評価、②非腫瘍組織の薬物動態や薬理、家族性腫瘍に関連する遺伝子変異の解析、ならびに、生殖細胞系列遺伝子プロファイリングと臨床情報との関連解析を行うことによる治療効果および毒性を予測するバイオマーカーの同定、③血漿由来遊離DNAを用いた\"Clinical Liquid Sequencing\"と組織生検等を用いた\"Clinical Sequencing\"を比較することによる\"Clinical Liquid Sequencing\"の有用性の検討、④胸腺腫瘍の免疫細胞のプロファイリングや胸腺腫瘍と自己免疫疾患の関係性に関する検討、を目的とする。","en":"This study has following four objectives\n1) We identify driver mutations, classify the disease by gene profiling, and evaluate biomarkers that predict treatment efficacy and genomic changes during recurrence or metastasis.\n2) We identify biomarkers that predict therapeutic efficacy and toxicity by analyzing polymorphisms of genes related to pharmacokinetics and pharmacology in non-tumor tissues and genetic mutations related to familial tumors and by performing association analysis between germline gene profiling and clinical information.\n3) We compare \"Clinical Liquid Sequencing\" using plasma-derived free DNA with tissue biopsy (\"Clinical Sequencing\") to evaluate its efficacy.\n4) In thymic tumors, we will examine immune cell profiling. The relationship between thymic tumors and autoimmune diseases will also be examined."},"methods":{"ja":"RNA-seq解析","en":"RNA-seq analysis"},"targets":{"ja":"胸腺腫98症例（胸腺腫97検体、正常胸腺1検体）","en":"98 thymoma cases (97 thymoma samples and one normal thymus sample)"},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"発現","en":"Expression profiling"},"targets":{"ja":"胸腺腫：98症例\n（日本人）","en":"thymoma: 98 cases\n(Japanese)"},"typeOfData":{"ja":"NGS\n（RNA-seq）","en":"NGS\n(RNA-seq)"}},"releaseNote":{"ja":"胸腺腫97症例および正常胸腺1症例（計98症例）の凍結組織から抽出したRNAを用いたRNA-seq解析データをfastqファイルにて提供する。","en":"RNAs extracted from frozen tissues from 97 thymoma samples and 1 normal thymus sample were used for RNA-sequencing analysis. Fastq files are provided."},"dataProviders":[{"name":{"ja":"谷内田 真一","en":"Shinichi Yachida"},"organization":{"name":{"ja":"大阪大学大学院医学系研究科 ゲノム生物学講座 がんゲノム情報学","en":"Cancer Genome Informatics, Osaka University"}}}],"researchProjects":[{"name":{"ja":"肺腫瘍、胸腺腫瘍患者の臨床検体（組織や血液など）を用いたゲノムプロファイリングに関する研究","en":"The study on genomic profiling using clinical specimens (tissue, blood, etc.) from patients with lung and thymic tumors"},"url":{"ja":null,"en":null}}],"grants":[{"title":{"ja":"家族性大腸腺腫症を対象にしたメタゲノム解析とそれに基づく大腸癌発症進展機構の解明","en":"Metagenomic analysis of familial adenomatous polyposis and its implications for understanding the pathogenesis of colorectal cancer"},"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":["20H03662"]},{"title":{"ja":"大腸癌ハイリスク患者の癌発症に関わる腸内環境変動の解明とそれに基づく大腸癌個別化予防法の開発に関する研究","en":"Research aimed at elucidating alterations in the intestinal microenvironment associated with colorectal cancer development in high-risk individuals, and the development of personalized preventive strategies based on these findings"},"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 Developmstent (AMED)"},"grantIds":["JP21ck0106546"]},{"title":{"ja":"腸内細菌解析による抗悪性腫瘍剤の有害作用発現予測に関する研究開発","en":"Research and development aimed at predicting the occurrence of adverse effects associated with anticancer drugs through comprehensive analysis of the gut microbiota"},"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","en":"Project for Cancer Research and Therapeutic Evolution, Japan Agency for Medical Research and Developmstent (AMED)"},"grantIds":["JP21cm0106477"]},{"title":{"ja":"日米医学協力計画を基軸とした感染関連がんに関する疾患研究","en":"Investigation of infection-associated cancers conducted within the framework of the Japan-U.S. Medical Cooperation Program"},"agency":{"ja":"日本医療研究開発機構（AMED） 地球規模保健課題解決推進のための研究事業","en":"Research Program on the challenges of Global Health issues, Japan Agency for Medical Research and Developmstent (AMED)"},"grantIds":["JP20jk0210009"]},{"title":{"ja":"腸内環境解析による若年発症大腸癌の易罹患性・早期診断バイオマーカーの開発","en":"Development of biomarkers for early detection and susceptibility assessment of young-onset colorectal cancer through comprehensive analysis of the intestinal microenvironment"},"agency":{"ja":"日本医療研究開発機構（AMED） 次世代がん医療加速化研究事業","en":"Project for Promotion of Cancer Research and Therapeutic Evolution, Japan Agency for Medical Research and Developmstent (AMED)"},"grantIds":["JP22ama221404"]},{"title":{"ja":"オールジャパン体制による食道がん等消化器難治がんの全ゲノム配列データ及び臨床情報の収集・解析と創薬開発・全ゲノム医療基盤構築","en":"Collection and analysis of whole-genome sequencing data and clinical information on treatment-resistant gastrointestinal cancers, such as esophageal cancer, with the aim of facilitating drug development and establishing a nationwide infrastructure for genome-informed medical care in Japan"},"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 Developmstent (AMED)"},"grantIds":["JP22ck0106690"]},{"title":{"ja":"肉腫・脳腫瘍などの希少がんを対象としたゲノム解析による予防法・診断法・治療法の開発","en":"Advancement of preventive, diagnostic, and therapeutic approaches through comprehensive genomic analysis of rare malignancies, including sarcomas and brain tumors"},"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 Developmstent (AMED)"},"grantIds":["JP21ck0106693"]},{"title":{"ja":"肉腫・脳腫瘍などの希少がんを対象としたゲノム解析による予防法・診断法・治療法の開発","en":"Development of novel strategies for prevention, diagnosis, and treatment through comprehensive genomic analysis of rare cancers, including sarcomas and brain tumors"},"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 Developmstent (AMED)"},"grantIds":["JP24ck0106877"]},{"title":{"ja":"全ゲノム情報等の高精度かつ迅速な患者還元および新たな創薬等の創出を通じた高度化がんプレシジョン医療の実践","en":"Implementation of advanced cancer precision medicine through the timely and accurate return of patient-specific data, including whole-genome information, alongside the development of novel therapeutics"},"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 Developmstent (AMED)"},"grantIds":["JP24ck0106872"]},{"title":{"ja":null,"en":null},"agency":{"ja":"国立がん研究センター がん研究開発費","en":"the National Cancer Center Research and Development Fund"},"grantIds":["2023-A-06"]},{"title":{"ja":null,"en":null},"agency":{"ja":"国立高度専門医療研究センター医療研究連携推進本部横断的研究推進費","en":"Japan Health Research Promotion Bureau Research Fund"},"grantIds":["JH2022-B-01"]},{"title":{"ja":null,"en":null},"agency":{"ja":"大阪大学先導的学際研究機構 生命医科学融合フロンティア研究部門","en":"Integrated Frontier Research for Medical Science Division, Institute for Open and Transdisciplinary Research Initiatives, Osaka University"},"grantIds":null},{"title":{"ja":null,"en":null},"agency":{"ja":"東京大学医科学研究所共同研究","en":"Joint Research Project of the Institute Medical Science, the University of Tokyo"},"grantIds":null},{"title":{"ja":null,"en":null},"agency":{"ja":"武田科学振興財団","en":"the Takeda Science Foundation"},"grantIds":null},{"title":{"ja":null,"en":null},"agency":{"ja":"安田記念医学財団","en":"the Yasuda Medical Foundation"},"grantIds":null},{"title":{"ja":null,"en":null},"agency":{"ja":"三菱財団","en":"the Mitsubishi Foundation"},"grantIds":null},{"title":{"ja":null,"en":null},"agency":{"ja":"高松宮妃癌研究基金","en":"the Princess Takamatsu Cancer Research Fund"},"grantIds":null},{"title":{"ja":null,"en":null},"agency":{"ja":"タカラバイオ株式会社","en":"Takara Bio Inc."},"grantIds":null}],"relatedPublications":[{"title":"Characterizing the Tumor Immune Environment in Thymic Epithelial Tumors Using T-cell Receptor Repertoire Analysis and Gene Expression Profiling","doi":"https://doi.org/10.1016/j.xjon.2025.03.008","datasets":["JGAD000672"]}],"datasets":["JGAD000672"],"controlledAccessUsers":[]}