中枢神经系统血管母细胞瘤家系及基因学研究

目的探讨家族性中枢神经系统血管母细胞瘤(hemangioblastoma,HB)的临床特点及Von Hippel-Lin-dau(VHL)基因突变情况。方法对一个家族性中枢神经系统血管母细胞瘤所有成员进行临床资料收集及分析,绘制系谱图;并对家系成员进行VHL基因测序。结果该家系有5例患病,其中3例患者均行手术治疗,2例患者因该病死亡。VHL基因检测未发现VHL基因突变。结论早期发现及治疗能降低HB的危害,发现家族性HB应对家系成员进行普查,并行VHL基因检测,确诊为VHL病的患者需终生随访,以便及时处理复发或新发病灶。

Clinical and genetic study of a family central nervous system hemangioblastoma

Objective To investigate the clinical features and VHL gene mutation of familial central nervous system hemangioblastomas （HB）. Methods Clinical data of all family members with central nervous system HB was collected and analysed. A pedigree chart covering three generations was drawn and VHL gene sequencing was conducted on all members. Results This family has five patients in total, three of which underwent surgical treatment （two were gamma knife treatments） ~ while two other patients died due to HB. No VHL gene mutation was found. Conclusion Early de- tection and treatment can reduce the harm of HB. All family members should be examined and should take VHL gene de- tection if familial HB is found in the family. Follow-up visits should be paid to patients diagnosed with VHL disease throughout their lives in order to treat the recurrence or new lesion in time.