{"id":"hum0267","version":1,"url":"https://humandbs.dbcls.jp/research/hum0267/v1","datePublished":"2025-02-12","versions":[{"version":1,"datePublished":"2025-02-12"}],"title":{"ja":"小児がん・血液疾患患者に対するがん素因遺伝子およびがん細胞における原因遺伝子の網羅的遺伝子解析研究","en":"Comprehensive gene mutation analysis of cancer-predisposing genes and cancer-causing genes in pediatric cancer/hematologic disease."},"summary":{"aims":{"ja":"小児固形腫瘍は多様な新生物群であり、適切な治療のためには腫瘍のサブタイプを含めた正確な診断が必要である。 疾患特異的な遺伝子変異、特にユーイング肉腫におけるEWSR1-FLI1や胞巣状横紋筋肉腫におけるPAX3/7-FOXO1などの特定の融合遺伝子を同定することにより、小児固形腫瘍における診断を正確に行うことができる。さらに、腎明細胞肉腫におけるBCOR-ITDや紡錘細胞型/硬化型横紋筋肉腫におけるMYOD1 p.Leu122Argなど、サブタイプを定義する遺伝子変異が特定されている。本研究では、RNAシーケンスにより、これらの遺伝子変異（新規含む）を同定することで小児固形腫瘍の鑑別診断における臨床的有用性を評価した。","en":"Pediatric solid tumors are a diverse group of neoplasms, and accurate diagnosis of tumor subtype is necessary. The detection of disease-specific fusion genes such as EWSR1-FLI1 in Ewing Sarcoma and PAX3/7-FOXO1 in alveolar rhabdomyosarcoma, can improve the diagnosis of pediatric solid tumors. In addition, recent advances in techniques have identified several subtype-defining somatic genetic alterations, including internal tandem duplication of BCOR in clear cell sarcoma of the kidney, and MYOD1 p.Leu122Arg (p.L122R) in spindle cell/sclerosing rhabdomyosarcoma. In this study, we performed transcriptome analysis using RNA-sequencing to assess its clinical utility in the differential diagnosis of pediatric solid tumors."},"methods":{"ja":"肉腫が疑われた、または肉腫と診断された小児47例においてRNAシーケンスを行い、疾患特異的な遺伝子異常について解析する（新規の遺伝子変異を含む）。","en":"We performed RNA-sequencing in 47 children who suspected of sarcoma and analyzed disease-specific gene alterations (include novel gene alterations)."},"targets":{"ja":"肉腫が疑われた小児47症例","en":"Forty-seven children, who were suspicious of sarcoma."},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"発現","en":"Expression profiling"},"targets":{"ja":"肉腫が疑われた小児：47症例\n（日本人）","en":"47 children who suspected of sarcoma\n(Japanese)"},"typeOfData":{"ja":"NGS\n（RNA-seq）","en":"NGS\n(RNA-seq)"}},"releaseNote":{"ja":"肉腫が疑われた小児47症例の腫瘍組織から抽出したRNAを用いたRNA-seqデータをfastqファイルにて提供する。","en":"RNAs extracted from tumor tissues of 47 children who suspected of sarcoma were used for the RNA-sequencing analysis. Fastq files are provided."},"dataProviders":[{"name":{"ja":"若松 学","en":"Manabu Wakamatsu"},"organization":{"name":{"ja":"名古屋大学大学院医学系研究科 小児科学","en":"Department of Pediatrics, Nagoya University Graduate School of Medicine"}}}],"researchProjects":[],"grants":[],"relatedPublications":[{"title":"Integrated diagnosis based on transcriptome analysis in suspected pediatric sarcomas","doi":"https://doi.org/10.1038/s41525-021-00210-y","datasets":["JGAD000390"]}],"datasets":["JGAD000390"],"controlledAccessUsers":[]}