Cervio A, Villalonga J F, Mormandi R, Alcorta S Condomí, Sevlever G, Salvat J
Department of Neurosurgery, Institute for Neurological Research FLENI, Buenos Aires, Argentina.
Department of Pathology, Institute for Neurological Research FLENI, Buenos Aires, Argentina.
Surg Neurol Int. 2017 Aug 1;8:163. doi: 10.4103/sni.sni_490_16. eCollection 2017.
Hemangioblastomas (HBL) are uncommon tumors of the central nervous system (CNS), corresponding to 1-2.5% of all intracranial tumors. They can present sporadically or in patients with von Hippel-Lindau (VHL) disease and are most often located in the cerebellum, brainstem, and spinal cord. VHL disease is a multiple neoplasia syndrome inherited in an autosomal dominant fashion and caused by a VHL suppressor gene deletion. We present our experience in the management of patients with cerebellar HBL.
Thirty consecutive patients with cerebellar HBL were included in this study. Hospital charts, radiological images, and operative records were reviewed. Modified Rankin scores were used to evaluate the clinical course.
Thirty patients diagnosed with cerebellar HBL were operated. Complete total resection was achieved in 93% of the cases. Postoperatively, 83% of the patients showed good functional recovery.
HBL of the cerebellum should be resected when symptomatic or when the tumor (or a tumor-associated cyst) shows signs of enlargement. Surgical intent should seek en bloc resection to minimize intraoperative bleeding. Patients with HBLs must be tested for VHL gene mutations, and in confirmed cases, relatives should be offered genetic counseling.
血管母细胞瘤（HBL）是中枢神经系统（CNS）的罕见肿瘤，占所有颅内肿瘤的1%-2.5%。它们可散发出现，或见于患有冯·希佩尔-林道（VHL）病的患者，最常位于小脑、脑干和脊髓。VHL病是一种以常染色体显性方式遗传的多肿瘤综合征，由VHL抑癌基因缺失引起。我们介绍我们在小脑HBL患者管理方面的经验。
本研究纳入了30例连续的小脑HBL患者。回顾了医院病历、影像学图像和手术记录。采用改良Rankin评分评估临床病程。
30例诊断为小脑HBL的患者接受了手术。93%的病例实现了完全全切除。术后，83%的患者显示功能恢复良好。
有症状时或肿瘤（或与肿瘤相关的囊肿）出现增大迹象时，应切除小脑HBL。手术目的应是整块切除，以尽量减少术中出血。必须对HBL患者进行VHL基因突变检测，确诊病例的亲属应接受遗传咨询。
