中枢神经系统血管母细胞瘤的诊断与治疗

目的：分析中枢神经系统血管母细胞瘤(Hemangioblastomas)的临床特点。方法：回顾性分析我科1989—2002年收治的198例中枢神经系统血管母细胞瘤，均经手术及病理证实。结果：肿瘤常见发病年龄为20-45岁，多见于后颅窝，囊性152例，实质性46例，绝大部分行CT检查，57例行MRI检查，5例行DSLA检查。囊性瘤全切147例，死亡3例；实质性肿瘤全切38例，部分切除8例，死亡6例。结论：CT、MRI和DSA检查是明确诊断的必要手段；手术切除肿瘤仍是最重要的治疗措施；术前栓塞供血动脉、术中控制性降压和术后立体定向放射神经外科治疗是实质性血管母细胞瘤的有效辅助治疗方法。     

Low frequency of VHL germline mutations in Norwegian patients presenting with isolated central nervous system hemangioblastomas – a population‐based study

Rønning P, Andresen PA, Hald JK, Heimdal K, Scheie D, Schreiner T, Helseth E. Low frequency of VHL germline mutations in Norwegian patients presenting with isolated central nervous system hemangioblastomas – a population‐based study.
Acta Neurol Scand: 2010: 122: 124–131.
© 2009 The Authors Journal compilation © 2009 Blackwell Munksgaard. Objectives – Explore the genetic and clinical incidence of von Hippel–Lindau disease in patients presenting with isolated central nervous system hemangioblastomas. Results – We report a 3.2% (1/31) and 25% (8/32) incidence of genetic and clinical VHL, respectively. One patient tested positive for a VHL mutation that has not previously been reported. This genotype phenotypically predicts VHL type 2B. We had seven patients with renal cysts. In a total follow‐up of 33 person years, none of these cysts progressed to renal cell carcinoma. Conclusion – von Hippel‐Lindau disease anchored in germline mutations of the VHL gene is rare in the Norwegian population as opposed to clinical VHL disease, which appears to be relatively common in patients with apparently sporadic hemangioblastomas. There exists insufficient data regarding the natural history of patients with renal cysts, which makes it difficult to include or disregard these lesions as an entity of VHL disease.     

Juxtapapillary Retinal Hemangioblastoma (Angiomatosis Retinae) in an Infant: Light Microscopical and Ultrastructural Examination

A retinal tumor in an 8-month-old boy clinically resembled a retinoblastoma. Light microscopic and ultrastructural examination revealed a hemangioblastoma (von Hippel's disease). It was mainly composed of large, light, lipid-containing cells (so-called stroma cells) lying between numerous vessels, which ultra-structurally were seen to be surrounded by several layers of pericytes separated by abundant basement membrane material. The origin of the stromal cells is discussed in particular. Ultrastructural examination of this tumor has not previously been performed in such an early case, but 2 adult cases have been recorded. Based on their findings the authors favor a vascular origin but conclude that the derivation of the stroma cell is still unresolved.     

Endolymphatic sac tumor with von Hippel-Lindau disease: report of a case with atypical pathology of endolymphatic sac tumor

The authors described a case of a patient with co-existing endolymphatic sac tumor (ELST) and hemangioblastoma in the posterior cranial fossa, which belonged to a subtype of Von Hippel-Lindau (VHL) disease confirmed by the test of VHL-gene. The signs in this 42-year-old female included intermittent headache and dizziness. Imaging revealed a giant mass in the right cerebellopontine angle (CPA) region and another lesion in the left cerebellar hemisphere. The results of biopsy after two operations confirmed the diagnosis respectively. Both of the tumors were resected totally. Nevertheless, we had to confess the misdiagnosis as vascular tumor instead of ELST at the initial diagnosis because of the rarity of ELST associated with atypical histological characteristics. The purposes we reported this case were to describe the atypical pathological feature of ELST and the mutation of germline VHL not mentioned in previously literature, furthermore, to foster understanding of ELSTs with the avoidance of the similar misdiagnosis as far as possible in future.     

小脑实质性血管网织细胞瘤（附10例报告）

目的 探讨小脑实质性血管网织细胞瘤的诊断与治疗。方法 回顾性分析10例小脑实质性血管网织细胞瘤的临床表现及辅助检查、手术方法。结果 术后病人均明确诊断为小脑实质性血管网织细胞瘤，手术全切难度大。结论 术前栓塞供血动脉、术中先处理供血动脉、静脉后再切除肿瘤，能降低手术风险和肿瘤术后复发率。     

Diagnosis and treatment of intramedullary hemangioblastoma of cervical spinal cord

ObjectiveTo investigate the diagnosis and surgical techniques of intramedullary hemangioblastoma of the cervical spinal cord.MethodsMR imaging and the methods and results of surgery were analyzed in 21 patients.ResultsThe tumors were divided into three types on MR imaging. ① Syringeal type, where the tumor varied in size and was accompanied by syringobulbia and syringomyelia; ② Cystic type, where the tumor presented as a cyst with a small mural node; and ③ Solid type, where the tumor was revealed as a huge solid mass. All tumors were totally removed and diagnosis was confirmed by histological study. Post-operative neurological status was improved in 20 patients and aggravated in 1.Conclusions The localization and the nature diagnosis of the tumor can be made by cervical MR imaging. Operative methods vary with tumor types. It is the most important that the tumor is dissected along the right interface and removed after devascularization.     

Congenital supratentorial hemangioblastoma as an unusual cause of simultaneous supra- and infratentorial intracranial hemorrhage: case report

Summary Congenital supratentorial hemangioblastomas are extremely rare tumors even in pediatric population. A 57-day-old female neonate presented with a pure motor seizure. On imaging studies, intracranial hemorrhagic lesions containing multiple cystic components in the cerebral and cerebellar areas were revealed, simultaneously. After the emergency surgical evacuation only to a fatal supratentorial lesion, an infratentorial lesion also regressed spontaneously. The authors report a case of full-term neonate presenting with supra- and infratentorial hemorrhagic lesions, which occurred as a result of congenital supratentorial hemangioblastoma bleeding. Address for offprints: Jae Min Kim, Department of Neurosurgery, College of Medicine, Hanyang University Guri Hospital, 249-1 Gyomun-dong, Guri, Gyunggi-do, 471-701 Guri, Korea; Tel.: +82-31-560-2323; Fax: +82-31-560-2327; E-mail: kjm2323@hanyang.ac.kr     

Von Hippel-Lindau disease: a radiological essay

Von Hippel-Lindau disease is a progressive autosomal dominant disorder with multi-organ involvement. A variety of benign and malignant disease processes lie within the spectrum of disease processes associated with this condition. Early detection and treatment of complications is paramount in the management of these patients. The purpose of this pictorial review is to depict the various radiological manifestations that are commonly seen in this disease.     

Hemangioblastomas: Immunohistochemical and ultrastructural study of the stromal cells

An immunohistochemical study of 36 hemangioblastomas (Hmbl) from 32 patients was performed to clarify the cytogenesis of stromal cells (SC). In 19 of 29 Hmbl, SC revealed glial fibrillary acidic protein-immunolabeling with an antigen retrieval by trypsinization, and were also positive for S-100 protein, αB crystallin, neuron-specific enolase and vimentin. Ultrastructurally, SC contained lipid droplets, unevenly distributed intermediate filaments with occasional myelin figures, primitive desmosomal junctions and, although rare, Rosenthal fibers or a cilium. It is concluded that SC associated with Hmbl exhibit markers consistent with an astrocytic origin.     

Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma

Von Hippel-Lindau (VHL) disease is a dominantly inherited disorder predisposing those afflicted to hemangioblastomas of the central nervous system and the retina, renal cell carcinomas, pheochromocytomas, and pancreatic tumors. The disease has been associated with mutations of the VHL gene. The screening of 92 unrelated patients with VHL disease for point mutations in this gene revealed 61 DNA variants. In addition, a search for EcoR1 rearrangements revealed germline anomalies in 5 patients. The 61 variants could be subdivided in 20 mutations predicted to alter the open reading frame (8 nonsense mutations, 8 frame shift mutations, and 4 mutations in consensus splicing sites) and 43 DNA sequence variants of a priori unknown biological consequence (4 in-frame insertions or deletions, 36 missense mutations, and 3 apparently silent variations). The 3′ end of the coding sequence of the VHL gene, which encodes the Elongin binding domain was the site of 5 of 20 truncating mutations (25%) and of 18 of 41 DNA variants (44%) causing uncertain functional impairment. A similar screening in 18 patients with sporadic hemangioblastoma revealed 2 missense DNA variants. In order to corroborate this latter observation, a systematic screening for germline alteration of the VHL gene might be performed in a larger series of sporadic hemangioblastoma. If this preliminary result is confirmed, more than 10% of sporadic hemangioblastoma might be related to a mild VHL disease, thus a follow-up program similar to that recommended in cases of VHL disease should probably be discussed in the corresponding families. Hum Mutat 12:424–430, 1998. © 1998 Wiley-Liss, Inc.