NCT01773655已完成不适用
Clinical and Histopathologic Characteristics of BAP1 Mutations
适应症
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 196
- 试验地点
- 2
- 主要终点
- determine the prevalence of germline BAP1 mutations
研究概览
简要总结
The goal of this protocol is to determine the prevalence of somatic and germline mutations in BAP1 (BRCA associated protein-1) among patients with mesothelioma , choroidal nevus, primary uveal melanoma (UM), or metastatic UM seen at our institution.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •All consents:
- •> or = to 18 years of age
- •Ability to provide informed consent
- •Mesothelioma
- •Histologically proven diagnosis of Mesothelioma OR Choroidal nevus
- •Diagnosis of choroidal nevus by direct examination and/or ultrasound/optical coherence tomography and possibly fluorescein angiography OR Primary uveal melanoma
- •Diagnosis of uveal melanoma by direct examination and/or ultrasound/optical coherence tomography and possibly fluorescein angiography
- •Mesothelioma
- •Histologically proven diagnosis of Mesothelioma AND
- •BAP1 mutation or loss of expression identified in tumor sample
- •OR one of the following:
- •Age<50 at diagnosis
- •No history of asbestos exposure
- •Personal history of choroidal nevus, uveal melanoma, melanoma, renal cell carcinoma, or cholangiocarcinoma
- •Family history of choroidal nevus, uveal melanoma, mesothelioma, renal cell carcinoma, or cholangiocarcinoma
- •History of malignancy in more than two first-degree relatives OR Choroidal nevus
- •Diagnosis of choroidal nevus by direct examination and/or ultrasound/optical coherence tomography and possibly fluorescein angiography AND one of the following:
- •More than one clinical risk factor, which may include: orange pigment, thickness > 1 < 2.5mm
- •Personal history of uveal melanoma, skin melanoma, mesothelioma renal cell carcinoma, or cholangiocarcinoma
- •Family history of choroidal nevus, uveal melanoma, mesothelioma renal cell carcinoma, or cholangiocarcinoma OR Primary uveal melanoma
- •Diagnosis of uveal melanoma by direct examination and/or ultrasound/optical coherence tomography and possibly fluorescein angiography
- •AND one of the following:
- •Personal history of uveal melanoma, skin melanoma, mesothelioma, renal cell carcinoma, or cholangiocarcinoma
- •Family history of choroidal nevus, uveal melanoma, mesothelioma, renal cell carcinoma, or cholangiocarcinoma
- •History of malignancy in more than two first-degree relatives OR Metastatic uveal melanoma
- •Histologically proven diagnosis of metastatic uveal melanoma AND
- •BAP1 mutation or loss of expression identified in tumor sample
- •OR one of the following:
- •Personal history of uveal melanoma, skin melanoma, mesothelioma renal cell carcinoma, or cholangiocarcinoma
- •Family history of choroidal nevus, uveal melanoma, mesothelioma renal cell carcinoma, or cholangiocarcinoma
- •History of malignancy in more than two first-degree relatives
- •Relative of patient with germline BAP1 mutation identified through identified testing
排除标准
- 未提供
结局指标
主要结局
determine the prevalence of germline BAP1 mutations
时间窗: 2 years
Prevalence will be estimated as the proportion of all specimens who tested positive for mutation, and reported along with the corresponding exact 95% confidence intervals.
次要结局
- prevalence of somatic BAP1 mutations in disease mesothelioma and metastatic uveal melanoma.(2 years)
研究者
研究点 (2)
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