两家系家族性颅内血管网状细胞瘤的临床特征及诊疗分析  

Clinical features, diagnosis and treatment of 2 pedigrees with familial hemangioblastoma

作　　者：雷琳[1] 黄亚平[1] 朱庆茹[1] 

机构地区：[1]襄阳市中心医院肿瘤科,湖北省441000

出　　处：《中华神经医学杂志》2012年第5期519-521,共3页Chinese Journal of Neuromedicine

摘　　要：目的分析2个家系5名家族性血管网状细胞瘤患者的临床表现及诊断治疗方法。方法湖北省襄阳市中心医院肿瘤科自2005年9月至2011年5月共收治2个家系共5名家族性血管网状细胞瘤患者，回顾性分析患者的临床资料、影像学特征、诊断与治疗方法。结果头颅MRI检查显示家系1中3例患者有2例为囊实性肿瘤，l例为实性肿瘤；家系2中2例患者均为囊实性肿瘤。5例患者均存在突变，均可诊断为VonHippel—Lindau（VHL）病。所有患者均未合并肝脏等其他部位的病变。镜下全切或近全切肿瘤后均行定期随访1年，无复发、无死亡病例。结论头颅磁共振检查仍是目前家族性血管网状细胞瘤最主要的诊断及随访方法，手术仍是最主要的治疗手段。Objective To analyze the clinical features, diagnosis and treatment of 2 pedigrees （5 patients） with familial hemangioblastoma. Methods The detailed clinical and imaging data of 2 pedigrees （5 patients） with familial hemangioblastoma, admitted to our hospital from September 2005 to May 2010, were retrospectively analyzed; their diagnosis and treatment were concluded. Results Among the 3 patients of the first pedigree, 2 patients displayed cystic and solid tumor and 1 cystic tumor under cranial MRI; both 2 patients of the second pedigree displayed cystic solids. All the 5 patients had mutations and could be diagnosed as having von Hippel-Lindau （VHL）. No patients were combined with other parts of the lesion; aiter microscopic total/sub-total resection, no patients existed postoperative occurrence and no patient died. Conclusion MRI is the most important detective method in the diagnosis of patients with familiar hemangioblastomas; microsurgery is still the most important therapy method to familiar hemangioblastomas.

关 键 词：血管网状细胞瘤 Von Hippel-Lindau病 临床特征 

分 类 号：R739.41[医药卫生—肿瘤]