Prospective Evaluation of High Resolution Dual Energy Computed Tomographic Imaging, Noninvasive (Liquid) Biopsies, and Minimally Invasive Surgical Surveillance for Early Detection of Mesotheliomas in Patients With BAP1 Tumor Predisposition Syndrome
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 300
- 试验地点
- 1
- 主要终点
- Prospectively gather information related to the use of dual energy computed tomographic imaging (DECT) together with minimally invasive surveillance for early detection of mesotheliomas in patients with BAP1 TPDS
研究概览
简要总结
Background:
A germline mutation is a change to a person s genes that is carried through their DNA. These mutations can be passed on from parents to their offspring. Germline mutations in a gene called BAP1 are linked to the development of mesothelioma and other cancers. Researchers want to follow people with these mutations to learn more.
Objective:
To see if researchers can improve how people who have or are suspected to have a BAP1 mutation are monitored over time.
Eligibility:
People age 30 and older who are suspected to have a BAP1 germline mutation.
Design:
Participants will be screened with a personal and family medical history. Their medical records may be reviewed. They will give a blood or saliva sample to test for a BAP1 mutation. They will get genetic counseling.
To take part in this study, participants will enroll on 2 to 3 other protocols.
Participants will have a physical exam. They may have a tumor biopsy. They will give blood and urine samples. They will have skin and eye exams.
Some participants will have video-assisted thoracoscopy to examine the chest and lungs and diagnose suspicious areas. For this, a small camera is inserted into the chest through a small incision.
Some participants will have laparoscopy to examine the organs inside the abdomen. For this, a small camera is inserted into the abdomen through a small incision.
Participants will have imaging scans of the chest, abdomen, and pelvis. They may have brain scans.
Participants will visit the NIH once a year for follow-up exams.
Participation lasts indefinitely.
详细描述
Background:
- Mutations involving BRCA1-Associated Protein-1 (BAP1), a nuclear deubiquitinase involved in epigenetic regulation of gene expression, DNA repair, and cellular energetics, have emerged as one of the most common somatic mutations in malignant mesotheliomas.
- Germline mutations involving BAP1 predispose individuals to mesothelioma as well as a variety of other malignancies including melanoma and lung, renal, gastric, breast, and biliary tract cancers.
- The cancer penetrance of germline BAP1 mutations is nearly 100%, with most patients developing multiple neoplasms.
- Presently there are no established guidelines for surveillance of cancer patients with germline BAP1 mutations or of cancer-free individuals with germline BAP1 mutations.
Objectives:
To prospectively gather information related to the use of dual energy computed tomographic imaging (DECT) together with minimally invasive surgical surveillance for early detection of pleural or peritoneal mesothelioma in participants with BAP1 tumor predisposition syndrome (TPDS)
Eligibility:
研究设计
- 研究类型
- Observational
- 观察模型
- Case Only
- 时间视角
- Prospective
入排标准
- 年龄范围
- 30 Years 至 120 Years（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •for Genetic Testing
- •Eligible participants include:
- •-Individuals with a history of any malignancy with known or suspected germline mutations involving BAP1
- •-First- or second-degree relatives of patients (with or without cancer) with documented BAP1 tumor predisposition syndrome (TPDS)
- •Age >= 30 years.
- •All participants must understand and be willing to sign a written informed consent document.
- •Inclusion Criteria for Surveillance
- •Eligible participants include those who completed step 1 genetic testing with study-confirmed BAP1 or other germline TPDS mutation.
- •Completed co-enrollment on protocol 06C0014, "Prospective Evaluation of Genetic and Epigenetic Alterations in Patients with Thoracic Malignancies."
排除标准
- 未提供
研究组 & 干预措施
Relatives of cancer patients
First- or second-degree relatives of a cancer patient (with or without cancer) with documented BAP1 tumor predisposition syndrome (TPDS)
Cancer patients
Individuals with history of cancer and detected or suspected germline mutation in BAP1 TPDS
结局指标
主要结局
Prospectively gather information related to the use of dual energy computed tomographic imaging (DECT) together with minimally invasive surveillance for early detection of mesotheliomas in patients with BAP1 TPDS
时间窗: annual or biennial follow-up, 5 years interim analysis
Documentation of the counts, incidence, and frequencies of cancers from dual energy computed tomographic imaging and minimally invasive surveillance results will be analyzed for statistical analysis for the early detection of mesotheliomas in patients with BAP1 TPDS.
次要结局
- To investigate the biological mechanisms associated with prolonged survival in participants with mesothelioma that carry germline BAP1 mutations(once during follow-up per participant agreement)
- To characterize the epigenetic features of mesotheliomas associated with germline mutations in BAP1(at clinical visits, annual or bi-annual follow-up)