Hemangioblastomas of the central nervous system in von Hippel-Lindau syndrome and sporadic disease
Hemangioblastomas of the central nervous system in von Hippel-Lindau syndrome and sporadic disease
复制标题
DOI：
10.1097/00006123-200101000-00009
复制
发表时间：
2001-01-01
期刊：
影响因子：
4.8
通讯作者：
Rigamonti, D
中科院分区：
文献类型：
--
作者：
Conway, JE;Chou, D;Rigamonti, D
目的：我们分析了1973年至1999年在我们机构就诊的血管母细胞瘤（VHL）综合征和散发性疾病患者的表现、筛查、治疗和临床结局。我们检索了本机构的外科病理学数据库，以确定1973年至1999年发生的所有经组织学证实的CNS血管母细胞瘤患者。回顾性分析这些患者的医疗、放射学、手术、病理和尸检记录并进行统计学分析。结果：40例患者（21例男性和19例女性）患有中枢神经系统血管母细胞瘤。25例患者（62%）患有散发性血管母细胞瘤。15例患者（38%）有VHL综合征。这40例患者有61个血管母细胞瘤（8例患者有多个病灶）。10名患者（25%）患有脊髓血管母细胞瘤（5名患者有多个病灶）。与散发性疾病患者相比，VHL疾病患者倾向于在更年轻的年龄出现神经系统症状和体征（P = 0.09），出现多处病变（53%），并出现新病变（发生率，1处病变/2.1年）。脊髓血管母细胞瘤在VHL综合征患者中更常见（P = 0.024）。VHL综合征患者的神经放射学筛查允许在出现症状之前识别超过75%的新病变。进行了66例外科手术（12例患者需要多次手术）。6例VHL综合征患者需要手术治疗新病变。6例患者（15%）发生手术并发症。在88%的患者中记录了1年时症状缓解或进展停止。8例患者（20%）部分切除病变后症状复发。未发生与手术相关的死亡。1例散发性疾病和1例VHL综合征（5%）死亡的结果，从中枢神经系统血管母细胞瘤的晚期内科并发症。结论：手术治疗结果与中枢神经系统血管母细胞瘤患者是有利的。然而，血管母细胞瘤的管理是一个更困难和长期的奋进与VHL综合征患者。对于VHL综合征患者，神经放射学筛查可以在病变出现症状之前对其进行识别。由于VHL综合征患者有发生新病变的风险，因此需要终身随访。
OBJECTIVE: The presentation, screening, management, and clinical outcomes of patients who presented to our institution from 1973 to 1999 with central nervous system (CNS) hemangioblastomas in von Hippel-Lindau (VHL) syndrome and sporadic disease were analyzed.METHODS: The surgical pathology database of our institution was searched to identify all patients with histologically verified CNS hemangioblastomas occurring from 1973 to 1999. The medical, radioiogical, surgical, pathological, and autopsy records from these patients were reviewed retrospectively and statistically analyzed.RESULTS: Forty patients (21 males and 19 females) presented with CNS hemangioblastomas. Twenty-five patients (62%) harbored sporadic hemangioblastomas. Fifteen patients (38%) had VHL syndrome. These 40 patients presented with 61 hemangioblastomas (8 patients had multiple lesions). Ten patients (25%) harbored spinal cord hemangioblastomas (5 patients had multiple lesions). Patients with VHL disease tended to present with neurological symptoms and signs at a younger age than patients with sporadic disease (P = 0.09), to present with multiple lesions (53%), and to develop new lesions (rate, 1 lesion/2.1 yr). Hemangioblastomas of the spinal cord were more prevalent in patients with VHL syndrome (P = 0.024). Neuroradiological screening of patients with VHL syndrome allowed identification of more than 75% of new lesions before they became symptomatic. Sixty-six surgical procedures were performed (12 patients required multiple operations). Six patients with VHL syndrome required surgery for new lesions. Surgical complications occurred in six patients (15%). Symptom resolution or arrest of progression at 1 year was documented in 88% of patients. Recurrence of symptoms from partially resected lesions occurred in eight patients (20%). No deaths associated with surgery occurred. One patient with sporadic disease and one patient with VHL syndrome (5%) died as a result of late medical complications from CNS hemangioblastomas.CONCLUSION: Surgical outcomes for patients with CNS hemangioblastomas are favorable. However, management of hemangioblastomas is a more difficult and prolonged endeavor for patients with VHL syndrome. In patients with VHL syndrome, neuroradiological screening allows identification of lesions before they become symptomatic. Because patients with VHL syndrome are at risk for development of new lesions, they require lifelong follow-up.