Genetic Analysis of Pheochromocytomas, Paragangliomas and Associated Conditions
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 2,000
- 试验地点
- 1
- 主要终点
- Identification of germline driver mutation
研究概览
简要总结
Pheochromocytomas and paragangliomas are neural crest-derived tumors of the nervous system that are often inherited and genetically heterogeneous. Genetic screening is recommended for patients and their relatives, and can guide clinical decisions. However, a mutation is not found in all cases. The aims of this proposal are to: 1) to map gene(s) involved in pheochromocytoma, and 2) identify genotype-phenotype correlations in patients with pheochromocytoma/paraganglioma of various genetic origins.
详细描述
Pheochromocytoma and paragangliomas are tumors originated from neuroectoderm cells located in the adrenal or extra-adrenal paraganglia, often leading to increased secretion of hormones known as catecholamines. These tumors represent a potentially curable cause of hypertension and are malignant in about 10-15% of the cases. Approximately 40% of patients with pheochromocytomas and/or paraganglioma have an inherited mutation. In addition, some patients and/or their relatives that are mutation carriers can develop other tumors as part of inherited cancer susceptibility syndromes. Therefore, detection of the susceptibility mutation is important for diagnosis and follow up. However, the susceptibility gene mutation cannot be identified in all cases. Studies that aim to identify novel susceptibility genes for pheochromocytoma are required.
The fist aim of this study is to identify novel pheochromocytoma susceptibility genes. Characterization of such gene(s) can improve our understanding of the pathogenesis pheochromocytoma and paraganglioma and have an impact in diagnosis, therapeutic planning and genetic screening of relatives.
The second aim of this project is to characterize relationships between mutations and clinical features that can provide insights into clinical surveillance and screening of at-risk individuals.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Other
入排标准
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •diagnosis of pheochromocytoma and or paraganglioma
- •family member with diagnosis of pheochromocytoma and or paraganglioma
- •diagnosis of a pheochromocytoma- and or paraganglioma-associated condition
- •family member with diagnosis of a pheochromocytoma- and or paraganglioma-associated condition
排除标准
- •unconfirmed diagnosis of pheochromocytoma and/or paraganglioma or associated condition
结局指标
主要结局
Identification of germline driver mutation
时间窗: through study completion- average time approximately 6 months
Genetic screen detects a mutation that is likely responsible for tumor development
Identification of somatic driver mutation
时间窗: through study completion- average time approximately 6 months
Genetic screen detects a mutation that is likely responsible for tumor development
次要结局
- Identification of additional, potentially pathogenic genetic variants(through study completion- average time approximately 6 months)
- Identification of clinical features other than pheochromocytoma and/or paraganglioma that segregate with disease(through study completion- average time approximately 6 months)