Von Hippel-Lindau病及其相关神经系统病变的研究进展

Von Hippel-Lindau(VHL)病是一种常染色体显性遗传性肿瘤综合征,可累及多个器官,中枢神经系统血管母细胞瘤和内淋巴囊肿瘤是涉及神经外科的VHL相关疾患.VHL基因的发现和从分子生物学机制对VHL发病机制的阐述是近年来VHL病最大的研究进展.随着近年来影像技术发展、基因检测的普及以及神经外科技术的提高,VHL病及其相关神经系统疾患的诊治手段都有了很大的进步,而VHL家庭联盟的建立可能会为VHL病患者和其家庭提供相互支持帮助的平台.

Advances in Research of von Hippel-Lindau Disease and Its Nervous System Related Lesion

VHL disease is an autosomal dominant cancer syndrome predisposing to multiple organ lesions. Central nervous system Hemangioblastoma and Endolymphatic sac tumor are the major clinical manifestations in neurosurgery. The identification of the VHL disease gene and the theory of molecular-based pathngenesis of VHL disease are the most important progress in the study of VHL disease. Progress in medical image technology, genetic testing technology and neurosurgery technology is expected to show the improvement in the diagnosis and treatment of VHL disease and its neurosurgery related disorders. The establishment of VHL Family Alliance maybe is useful to provide mutual help for both the VHL patients and their families.