Incidence and Molecular Pathogenesis of Solid Tumors in RASopathies
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 100
- 试验地点
- 2
- 主要终点
- Prevalence of solid tumors in RASopathies
研究概览
简要总结
RASopathies are a group of syndromes, caused by variants of genes involved in the regulation of the Ras/MAP/ERK pathway. This intracellular transduction pathway profoundly affects embryogenic development, organogenesis, synaptic plasticity and neuronal growth.
RASopathies are characterized by multi-organ involvement, growth delay, premature aging and haemato-oncological manifestations.
Based on evidences provided by literature, cancer screening protocols are applied in some individuals affected by RASopathies, even though detailed information about prevalence and molecular pathogenesis of such tumors is still not clearly elucidate.
详细描述
To define the prevalence of solid (non-haematological) neoplasms in a monocentric cohort of patients affected by RASopathies To perform Next Generation Sequencing (NGS) analysis on tissue samples to preliminarily characterize the molecular pathogenesis of solid tumors in these patients' categories.
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Diagnostic
- 盲法
- None
入排标准
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Clinical and molecularly confirmed diagnosis of a RASopathy
排除标准
- •Clinical diagnosis of RASopathy without molecular characterization
结局指标
主要结局
Prevalence of solid tumors in RASopathies
时间窗: 5 years
To detect prevalence of solid tumors in monocentric cohort of RASopathies
次要结局
- Molecular characterization of solid tumors in RASopathies(5 years)