scholarly journals Pathology of the Nervous System in Von Hippel-Lindau Disease

2015 ◽  
Vol 2 (3) ◽  
pp. 114-129 ◽  
Author(s):  
Alexander O. Vortmeyer ◽  
Ahmed K. Alomari
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Hypoxia Inducible Factors ◽  
Metastatic Renal Cancer ◽  
Vhl Gene ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease ◽  
The Central Nervous System ◽  
Vhl Disease ◽  
Common Manifestation

Von Hippel-Lindau (VHL) disease is a tumor syndrome that frequently involves the central nervous system (CNS). It is caused by germline mutation of the VHL gene. Subsequent VHL inactivation in selected cells is followed by numerous well-characterized molecular consequences, in particular, activation and stabilization of hypoxia-inducible factors HIF1 and HIF2. The link between VHL gene inactivation and tumorigenesis remains poorly understood. Hemangioblastomas are the most common manifestation in the CNS; however, CNS invasion by VHL disease-associated endolymphatic sac tumors or metastatic renal cancer also occur, and their differentiation from primary hemangioblastoma may be challenging. Finally, in this review, we present recent morphologic insights on the developmental concept of VHL tumorigenesis which is best explained by pathologic persistence of temporary embryonic progenitor cells. 

A 10-year retrospective study of hemangioblastomas of the central nervous system with reference to von Hippel–Lindau (VHL) disease

2011 ◽  
Vol 18 (7) ◽  
pp. 939-944 ◽  
Author(s):  
Somanath Padhi ◽  
RajLaxmi Sarangi ◽  
Sundaram Challa ◽  
Priyatamjee Bussary ◽  
Manas K. Panigrahi ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Retrospective Study ◽  
Von Hippel Lindau ◽  
The Central Nervous System ◽  
Vhl Disease

scholarly journals Propranolol and Somatostatin Agonist Therapy Resulting in Symptom Improvement and Stabilization of von Hippel-Lindau-Associated Hemangioblastoma: A Case Report

2021 ◽  
Author(s):  
Maran Ilanchezhian ◽  
Reinier Alvarez ◽  
Amanda Carbonell ◽  
Brigitte C. Widemann ◽  
Prashant Chittiboina ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Autosomal Dominant ◽  
Symptom Improvement ◽  
Agonist Therapy ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease ◽  
The Central Nervous System ◽  
Tumor Types ◽  
Systemic Therapies

Abstract Von Hippel-Lindau disease is an inherited, autosomal dominant tumor predisposition syndrome which leads to susceptibility for developing hemangioblastomas of the central nervous system and retina, as well as other tumor types. No approved systemic therapies exist for this disease. Here, we present a patient diagnosed with Von Hippel-Lindau disease, with central nervous system and retinal hemangioblastomas, treated with propranolol and subsequently with Lanreotide. On both treatments, the patient showed notable symptom improvement. In addition, since starting Lanreotide, the patients hemangioblastoma has remained stable on imaging. Based on the symptom improvement in this patient and other reported findings in the literature, propranolol and somatostatin agonist therapy may have an anti-tumor effect in Von Hippel-Lindau associated hemangioblastomas; however, further investigation is warranted.

scholarly journals Characterization of Hemangioblastomas of Spinal Nerves

Neurosurgery ◽  
2005 ◽  
Vol 56 (3) ◽  
pp. 503-509 ◽  
Author(s):  
Sven Gläsker ◽  
Ansgar Berlis ◽  
Axel Pagenstecher ◽  
Vassilios I. Vougioukas ◽  
Vera Van Velthoven
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Case Reports ◽  
Vascular Supply ◽  
Spinal Nerve ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease ◽  
The Central Nervous System ◽  
Clinically Significant ◽  
Permanent Neurological Deficit

Abstract OBJECTIVE: Hemangioblastoma is classified as a benign tumor of the central nervous system. Peripheral nervous system hemangioblastomas to date have been described only in a few case reports. Experience in treating patients with these rare lesions, which harbor diagnostic and therapeutic pitfalls, is limited. METHODS: To characterize these lesions better, we reviewed our hemangioblastoma database for patients who underwent surgery for extradural hemangioblastoma of the spinal nerve. RESULTS: Between 1983 and 2003, six patients underwent surgery for spinal nerve hemangioblastomas at our institution. These tumors occurred in 2% of all patients with hemangioblastomas of the central nervous system, or 6% of all patients with spinal hemangioblastomas. The occurrence did not differ in von Hippel-Lindau disease cases versus sporadic cases. Radiographically, the tumors easily could be mistaken for schwannomas or metastases; however, they did have some typical features. If a hemangioblastoma was not suspected primarily, profuse bleeding could complicate surgery. Most of the tumors arose from the dorsal sensory fascicles. The vascular supply was from extradural circulation. In general, the surgical outcome of these lesions was good, and permanent neurological deficit was rare. However, local recurrence was observed in three of six patients. CONCLUSION: These tumors harbor diagnostic and therapeutic pitfalls. In general, the tumors are surgically more challenging, and clinically significant bleeding as well as local tumor recurrence is more common than in intradural hemangioblastomas, mostly because of the frequency of incorrect initial radiographic diagnosis. We suggest that because of the surgical consequences, hemangioblastoma should always be considered to be an important radiological differential diagnosis for nerve sheath tumors. Angiography can bring clarification to ambiguous cases.

Hemangioblastomas of the Central Nervous System in von Hippel-Lindau Syndrome and Sporadic Disease

Neurosurgery ◽  
2001 ◽  
Vol 48 (1) ◽  
pp. 55-63 ◽  
Author(s):  
James E. Conway ◽  
Dean Chou ◽  
Richard E. Clatterbuck ◽  
Henry Brem ◽  
Donlin M. Long ◽  
...  
Keyword(s):  
Spinal Cord ◽  
Central Nervous System ◽  
Nervous System ◽  
Von Hippel Lindau ◽  
Multiple Lesions ◽  
Younger Age ◽  
The Central Nervous System ◽  
Sporadic Disease ◽  
Vhl Disease

Abstract 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, radiological, 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.

Hemangioblastomatosis of the central nervous system without von Hippel–Lindau Disease: a case report

2005 ◽  
Vol 72 (3) ◽  
pp. 267-270 ◽  
Author(s):  
Masayasu Kato ◽  
Naoyuki Ohe ◽  
Ayumi Okumura ◽  
Jun Shinoda ◽  
Asuka Nomura ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Case Report ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease ◽  
The Central Nervous System

scholarly journals Pathological and Clinical Features and Management of Central Nervous System Hemangioblastomas in von Hippel-Lindau Disease

2014 ◽  
Vol 1 (4) ◽  
pp. 46-55 ◽  
Author(s):  
Hiroshi Kanno ◽  
Natsuki Kobayashi ◽  
Satoshi Nakanowatari
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Clinical Features ◽  
Vascular Tumor ◽  
Preoperative Embolization ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease ◽  
Vhl Disease ◽  
Perioperative Hemorrhage

Central nervous system (CNS) hemangioblastoma is the most common manifestation of von Hippel-Lindau (VHL) disease. It is found in 70-80% of VHL patients. Hemangioblastoma is a rare form of benign vascular tumor of the CNS, accounting for 2.0% of CNS tumors. It can occur sporadically or as a familial syndrome. CNS hemangioblastomas are typically located in the posterior fossa and the spinal cord. VHL patients usually develop a CNS hemangioblastoma at an early age. Therefore, they require a special routine for diagnosis, treatment and follow-up. The surgical management of symptomatic tumors depends on many factors such as symptom, location, multiplicity, and progression of the tumor. The management of asymptomatic tumors in VHL patients is controversial since CNS hemangioblastomas grow with intermittent quiescent and rapid-growth phases. Preoperative embolization of large solid hemangioblastomas prevents perioperative hemorrhage but is not necessary in every case. Radiotherapy should be reserved for inoperable tumors. Because of complexities of VHL, a better understanding of the pathological and clinical features of hemangioblastoma in VHL is essential for its proper management.

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