Cutaneous Lesions in Neurofibromatosis Type I and Other Pre-cancerous Syndromes

I 型神经纤维瘤病和其他癌前综合征的皮肤病变

• 批准号: 7965580
• 负责人: thomas j hornyak
• 金额: $ 5.89万
• 依托单位: DIVISION OF BASIC SCIENCES - NCI
• 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/7965580
• 关键词: Adult; Benchmarking; Benign; Biopsy; Cancerous; Childhood; Clinical Trials Design; Cutaneous; Dermoscopy; Development; Future; Goals; Growth; Hereditary Disease; Image; Lesion; Malignant Neoplasms; Measures; Methods; Morbidity - disease rate; Multiple Hamartoma Syndrome; Natural History; Neurofibromatosis 1; PTEN gene; Patients; Plexiform Neurofibroma; Population; Predisposition; Recruitment Activity; Sirolimus; Skin; Syndrome; Therapy Clinical Trials; Time; Visual; dermal neurofibroma; digital; skin lesion hyperpigmented; tumor

Digital dermatoscopy is used to capture accurately the time-dependent growth of dermal neurofibromas and cafe-au-lait macules and patches on the skin of NF1 patients. Sequential images of lesions on patients and associated biopsies have been performed on pediatric and adult patients. In 2008, the addition of pediatric patients to this project was accomplished. As the study progesses, we anticipate obtaining quantitative information about the rate of lesion development and change in both the pediatric and adult NF1 population. Additionally, we have begun a study of the cutaneous manifestations of Cowden syndrome. The spectrum of cutaneous findings associated with this genetic condition of germline PTEN is being re-evaluated in patients recruited for a trial of sirolimus therapy. Select cutaneous lesions are imaged dermatoscopically to determine their responsiveness to sirolimus therapy. To date 5 patients have entered this study.

数字皮肤镜检查用于准确捕获NF1患者皮肤上皮肤神经纤维瘤和Cafe-au-lait macules和斑块的时间依赖性生长。对儿科和成年患者进行了对患者和相关活检的病变的顺序图像。在2008年，将小儿患者添加到该项目中。 随着研究的发展，我们预计将获得有关病变发育率和小儿和成人NF1种群变化的定量信息。此外，我们已经开始研究Cowden综合征的皮肤表现。在招募西罗里木司治疗试验的患者中，正在对与这种种系PTEN的这种遗传状况相关的皮肤发现的范围进行重新评估。选择皮肤病变，以皮肤镜检查成像，以确定其对西罗莫司治疗的反应。迄今为止，有5名患者进入了这项研究。