INI1 Mutation Analysis and Expression Profiling of Embryonal CNS Tumors
试验速览
- 阶段
- 不适用
- 状态
- 终止
- 发起方
- 入组人数
- 38
- 试验地点
- 4
- 主要终点
- Deletions and mutations of the INI1 gene in infants with AT/RT, medulloblastoma, PNET, or choroid plexus carcinoma
研究概览
简要总结
RATIONALE: Genetic studies may help in understanding the genetic processes involved in the development of some types of cancer.
PURPOSE: Genetic study to understand how genes may be involved in the development of brain tumors in young children.
详细描述
OBJECTIVES:
- Determine the frequency and type of deletions and mutations of the INI1 gene in infants with embryonal central nervous system tumors.
- Compare the gene expression profiles in infants with atypical teratoid/rhabdoid tumors vs medulloblastoma or primitive neuroectodermal tumor.
OUTLINE: This is a multicenter study.
Tumor samples are analyzed by fluorescence in situ hybridization (FISH) for deletions of INI1 gene in chromosome band 22q11.2. Tumors without demonstration of deletions of INI1 gene by FISH are examined by polymerase chain reaction (PCR)-based microsatellite analysis for loss of heterozygosity using markers that map to 22q11.2.
DNA from tumor tissue is analyzed for mutations in the exons of the INI1 gene. Isolated matched normal DNA may be analyzed for identification of germline mutations. Parental DNA may be analyzed to identify inherited germline mutations of the INI1 gene.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Only
- 时间视角
- Cross Sectional
入排标准
- 年龄范围
- — 至 3 Years（Child）
- 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
Deletions and mutations of the INI1 gene in infants with AT/RT, medulloblastoma, PNET, or choroid plexus carcinoma
次要结局
未报告次要终点