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: 4691968
• 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/4691968
• 关键词: basal cell carcinoma; disease /disorder classification; gene expression; human subject; 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 geneable 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 (May 1985) about twenty-five 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 名患有基底痣的患者，分属于 5 个家庭 细胞癌 (NBCC) 综合征将用于遗传分析， 细胞表型/细胞遗传学和分子合作研究 生物学家试图从其中分离出转化 NBCC 细胞的基因 异常表型到正常表型。 在本研究的部分 指定的“综合征勾画”诊断放射学发挥着重要作用 角色。 许多骨骼异常、内脏病变（通过腹部和 盆腔超声）和脑部发育异常病变（通过 CT 研究） 扫描）被记录下来。 迄今为止（1985 年 5 月）已有约 25 名患者接受了治疗。 承认该协议。 以前未被认识到的骨骼变化 迄今为止，在研究的患者中已发现 NBCC。 我们还有 据记录，这组人的胆结石发病率高于平常 患者与一般人群相比。 较大数字的累积 案件正在等待做出明确的陈述。