家族性脑血管母细胞瘤10例分析

Analysis for Ten Cases of Familial Hemangioblastoma

背景与目的:家族性脑血管母细胞瘤是一种特殊的脑血管母细胞瘤,临床对其认识不足,发现率较低。本文探讨家族性脑血管母细胞瘤的临床特点和适宜的外科处置。方法:采用回顾方法对10例经手术和病理证实的家族性血管母细胞瘤进行临床分析。结果:本组病例占同期血管母细胞瘤8.92%(10/112)。家族性血管母细胞瘤产生新病灶率(40%)明显高于散发性血管母细胞瘤(3.92%);肿瘤全切除18枚(其中囊结节肿瘤13枚,实质性肿瘤5枚),手术死亡1例,出院9例中5例复发,复发间隔4～127个月,平均42个月。恢复劳动或工作6例,生活自理2例,仍需他人照料1例。结论:家族性脑血管母细胞瘤较散发性血管母细胞瘤易产生新病灶和复发,预后较差,应终身随访;临床应加强对家族性脑血管母细胞瘤的认识,VHL基因诊断是现今可取的诊断手段,并改变患者及家族成员的处置过程。

BACKGROUND ＆ OBJECTIVE：To study the clinical features and proper surgical treatment of familial hemangioblastomas. METHODS： Ten eases of familial hemangioblastomas proved by operation and pathology were analyzed retrospectively. RESULTS： They accounted for 8.92% of all hemangioblastomas. These patients with the familial hemangioblastoma developed new lesions in 40% of eases, comparing to 3.92% in sporadic hemangioblastoma. Eighteen tumors were eompletely removed of which 13 had mural nodular tumors and 5 had solid masses. One ease died after surgery. Nine patients were followed up with a mean time of 42 months, ranging from 4 to 127 months. Among them 6 eases are able to return to their previous work, and 2 cases have normal daily living activities, and 1 ease is still dependent. CONCLUSION： Patients with familial hemangioblastomas had a poor long-term prognosis, and tend to present with new lesions and recur than those patients with sporadic hemangioblastomas. Because patients with familial hemangioblastomas are at risk of development of new lesions, they require lifelong follow-up and neurosurgeons should pay more attention to it. A molecular diagnosis of VHL is nowadays available and this may change the clinical management of patients and their families.