{"id":"hum0340","version":1,"url":"https://humandbs.dbcls.jp/research/hum0340/v1","datePublished":"2022-08-04","versions":[{"version":1,"datePublished":"2022-08-04"}],"title":{"ja":"小児固形腫瘍症例の次世代シークエンサーを用いた網羅的ゲノム解析","en":"Comprehensive genomic analysis using next-generation sequencer for pediatric solid tumor cases"},"summary":{"aims":{"ja":"成人がんと比べて小児がんは患者数が極端に少なく、疾患も多岐に渡るため、小児がん特有の遺伝子異常やエピジェネティックな異常については十分に解明されていないのが現状である。我々の施設は全国15施設ある小児がん拠点病院の1つに認定されており、九州圏内から小児がん患者が集約されている。治療抵抗性の再発・難治症例、標準治療が確立していない希少がん症例も多数経験しており、各症例の詳細な臨床情報も保存されている。今回、私達は当院で経験した本研究に同意を得た小児固形腫瘍患者の腫瘍組織、正常組織および生殖細胞組織を用いた網羅的ゲノム解析を行い、臨床情報と照らし合わせ、病態の解明ならびに標的治療薬の可能性を検討する。また、成人がん症例のゲノム情報と比較し、小児がん特有の異常を解明する。","en":"Compared to adult cancer, pediatric cancer has an extremely small number of patients and a wide range of diseases, so the genetic and epigenetic abnormalities have not been fully elucidated. Our hospital is one of the 15 pediatric cancer base hospitals nationwide. We have experienced a large number of relapsed / refractory cancer cases, and detailed clinical information on each case is also preserved. We conducted a comprehensive genomic analysis using tumor tissue, non-tumor tissue, and germline tissue of pediatric solid tumor patients which we experienced at our hospital. In addition, we will clarify the abnormalities peculiar to pediatric cancer by comparing them with the genomic information of adult cancer cases."},"methods":{"ja":"ホルマリン固定パラフィン包埋（FFPE）組織を対象として異なる方法によりDNA抽出・ライブラリ調整を行い、whole genome sequencing（WGS）解析ならびにTarget Capture sequencing（TCS）解析データを比較する。","en":"We developed more efficient DNA extraction methods using FFPE tissues of pediatric and adult cancer patients and compared the data from whole genome sequencing (WGS) analysis and target capture sequencing (TCS) analysis."},"targets":{"ja":"＜WGS＞\n・大腸がん（成人）：24症例のFFPE正常組織（24例中4例において2つのライブラリ調製法を実施）\n・網膜芽腫（小児）：1症例のFFPE腫瘍組織（2つのライブラリ調製法を実施、内1つは2回実施）\n＜TCS ＞\n・膠芽腫（成人）：2症例の血液、凍結腫瘍組織、FFPE腫瘍組織（2つのライブラ調製法を2回ずつ実施）","en":"[WGS]\n・Colorectal cancer: 24 cases (FFPE non-tumor tissues)\n・Retinoblastoma: 1 case (FFPE tumor tissues)\n[TCS]\n・Glioblastoma: 2 cases (peripheral blood, fresh frozen tumor tissues, and FFPE tumor tissues)"},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"配列決定","en":"Sequencing"},"targets":{"ja":"大腸癌：24症例 （成人）\n網膜芽腫：1症例 （小児）\n膠芽腫：2症例 （成人）\n（日本人）","en":"Colorectal cancer: 24 cases\nRetinoblastoma: 1 case\nGlioblastoma: 2 cases"},"typeOfData":{"ja":"NGS\n（WGS、Target Capture）","en":"NGS\n(WGS, Target Capture)"}},"releaseNote":{"ja":"成人大腸がん24症例のホルマリン固定パラフィン包埋（FFPE）非腫瘍組織28検体および小児網膜芽腫1症例のFFPE腫瘍組織から抽出したDNAを用いたwhole genome sequencing解析データ、ならびに、成人膠芽腫2症例（血液2検体、凍結腫瘍組織2検体、FFPE腫瘍組織8検体）から抽出したDNAを用いたTarget Capture Sequencing解析データをfastqファイルにて提供する。","en":"DNAs extracted from FFPE non-tumor tissues of 24 adult patients with colorectal cancer and FFPE tumor tissues of 1 child patient with retinoblastoma were used for whole genome sequencing analysis. Fastq files are provided.\nDNAs extracted from blood samples, fresh frozen tumor tissues, and FFPE tumor tissues obtained from 2 adult patients with glioblastoma were used for the target capture sequencing analysis. Fastq files are provided."},"dataProviders":[{"name":{"ja":"大場 詩子","en":"Utako Oba"},"organization":{"name":{"ja":"九州大学大学院 医学研究院 成長発達医学分野","en":"Department of Pediatrics, Kyusyu University"}}}],"researchProjects":[],"grants":[],"relatedPublications":[{"title":"An efficient procedure for the recovery of DNA from formalin-fixed paraffin-embedded tissue sections","doi":"https://doi.org/10.1093/biomethods/bpac014","datasets":["JGAD000640"]}],"datasets":["JGAD000640"],"controlledAccessUsers":[]}