RADIOGRAPHIC MANIFESTATIONS OF THE NEVOID BASAL CELL CARCINOMA SYNDROME

痣基底细胞癌综合征的放射学表现

• 批准号: 3963144
• 负责人: B PASTAKIA
• 金额: --
• 依托单位: CLINICAL CENTER
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/3963144
• 关键词: basal cell carcinoma; computed axial tomography; disease /disorder classification; gene expression; human subject; molecular pathology; neoplasm /cancer epidemiology; neoplasm /cancer radiodiagnosis; pigmented nevus; skeletal disorder

A total of 100 patients belonging to five families with the Nevoid Basal Cell Carcinoma (NBCC) Syndrome are to be studied for genetic analysis, cellular phenotype/cytogenetics and collaborative studies with molecular biologists in an attempt to isolate a gene able to transform NBCC cells from an abnormal phenotype to a normal phenotype. In the portion of this study designated "syndrome delineation" diagnostic radiology plays a significant role. Numerous skeletal abnormalities, visceral lesions (studied by abdominal and pelvic ultrasound) and dysplastic lesions in the brain (studied by CT scans) are noted. So far about 25 patients have been admitted to this protocol. Previously unrecognized skeletal changes in NBCC have been found in the patients studied to date. We have also documented a higher than usual incidence of gallstones in this group of patients as compared to the general population. Accrual of larger numbers of cases is awaited to make definitive statements.

共有100名患者属于5个家庭与痣基底 细胞癌（NBCC）综合征将被研究用于遗传分析， 细胞表型/细胞遗传学和与分子生物学的合作研究 生物学家试图分离出一种能够转化NBCC细胞的基因， 从异常表型转变为正常表型。 在这一部分中， 研究指定的“综合征描绘”诊断放射学发挥了 重要作用。 许多骨骼异常、内脏病变（通过腹部和腹部检查研究） 盆腔超声）和脑发育异常病变（通过CT研究 扫描）。 到目前为止，大约有25名患者接受了治疗。 议定书 在NBCC中发现了以前未被认识到的骨骼变化， 在迄今为止研究的患者中。 我们还记录了一个高于 这组患者中胆结石的通常发病率与 一般人口。 更多案件的累积有待作出 明确的声明。