Comprehensive Genome Sequencing of Desmoplastic Small Round Cell Tumors
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 20
- 主要终点
- Identification of genomic regions involved in pathogenesis of DSRCT
研究概览
简要总结
RATIONALE: Studying samples of blood and tumor tissue from patients with cancer in the laboratory may help doctors learn more about changes that occur in DNA and identify biomarkers related to cancer.
PURPOSE: This research study is studying genes in samples from younger patients with desmoplastic small round cell tumor registered on COG-D9902 or COG-ABTR01B1.
详细描述
OBJECTIVES:
- To perform whole-exome sequencing on desmoplastic small round cell tumor (DSRCT) samples and their available matched normal samples to identify novel mutations, single nucleotide polymorphisms, or copy number changes associated with these tumors.
- To identify regions of interest that may be involved in the pathogenesis (including the region of EWSR1-WT1 translocation) from the whole-exome sequencing and perform detailed resequencing and transcriptone sequencing to further define the molecular aberrations at the RNA level.
OUTLINE: This is a multicenter study.
Archived tumor tissue samples are analyzed for DNA sequencing, effects of RNA on gene expression levels, novel RNA isoforms, splice variants, and translocations.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Control
- 时间视角
- Retrospective
入排标准
- 年龄范围
- — 至 50 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- 未提供
排除标准
- 未提供
结局指标
主要结局
Identification of genomic regions involved in pathogenesis of DSRCT
Identification of novel mutations, single nucleotide polymorphisms, and copy number changes associated with DSRCT
次要结局
未报告次要终点