SOMATIC MUTATION ANALYSIS OF NEUROFIBROMATOSIS TYPE I

神经纤维瘤病，I型(NF1)，是一种遗传的显性特征，非常常见，全世界大约每3500人中就有一人受到影响。这种疾病的临床表现非常多变，只有三分之一的受影响个人会出现严重到需要干预的医疗并发症。目前尚不清楚NF1基因的特定突变是否与特定的临床表现有关。该方案的目的是确定临床症状相似的患者是否有类似的NF1突变。由于一些NF1患者在之前的良性神经纤维瘤中发生了恶性变化，维斯科奇尔博士正在尝试识别随着肿瘤从良性向恶性发展而出现的更多突变。这些研究是与不列颠哥伦比亚大学的简·弗里德曼博士合作完成的。

Neurofibromatosis, type I (NF1), is inherited as a dominant trait, and is extremely common, affecting approximately one in every 3,500 individuals worldwide. The disorder is highly variable in its clinical presentation, and only one-third of affected individuals develop medical complications severe enough to require intervention. It is not known if specific mutations of the NF1 gene are associated with specific clinical presentations. The objective of this protocol is to determine if patients with similar clinical syndromes have similar NF1 mutations. Because some NF1 patients develop malignant changes in their previously benign neurofibromas, Dr. Viskochil is attempting to identify additional mutations as tumors progress from benign to malignant. These studies are being done in cooperation with Dr. Jan Friedman at the University of British Columbia.