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.

scholarly journals Investigation and Management of Apparently Sporadic Central Nervous System Haemangioblastoma for Evidence of Von Hippel–Lindau Disease

Genes ◽  
2021 ◽  
Vol 12 (9) ◽  
pp. 1414
Author(s):  
Hugh Furness ◽  
Louay Salfity ◽  
Johanna Devereux ◽  
Dorothy Halliday ◽  
Helen Hanson ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Genetic Testing ◽  
Clinical Genetics ◽  
Ophthalmological Examination ◽  
Von Hippel Lindau ◽  
History Of ◽  
Von Hippel Lindau Disease ◽  
Vhl Disease

Haemangioblastomas are rare, highly vascularised tumours that typically occur in the cerebellum, brain stem and spinal cord. Up to a third of individuals with a haemangioblastoma will have von Hippel–Lindau (VHL) disease. Individuals with haemangioblastoma and underlying VHL disease present, on average, at a younger age and frequently have a personal or family history of VHL disease-related tumours (e.g., retinal or central nervous system (CNS) haemangioblastomas, renal cell carcinoma, phaeochromocytoma). However, a subset present an apparently sporadic haemangioblastoma without other features of VHL disease. To detect such individuals, it has been recommended that genetic testing and clinical/radiological assessment for VHL disease should be offered to patients with a haemangioblastoma. To assess “real-world” clinical practice, we undertook a national survey of clinical genetics centres. All participating centres responded that they would offer genetic testing and a comprehensive assessment (ophthalmological examination and CNS and abdominal imaging) to a patient presenting with a CNS haemangioblastoma. However, for individuals who tested negative, there was variability in practice with regard to the need for continued follow-up. We then reviewed the results of follow-up surveillance in 91 such individuals seen at four centres. The risk of developing a potential VHL-related tumour (haemangioblastoma or RCC) was estimated at 10.8% at 10 years follow-up. The risks of developing a recurrent haemangioblastoma were higher in those who presented <40 years of age. In the light of these and previous findings, we propose an age-stratified protocol for surveillance of VHL-related tumours in individuals with apparently isolated haemangioblastoma.

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. 

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.

Clinical features of patients bearing central nervous system hemangioblastoma in von Hippel-Lindau disease

2012 ◽  
Vol 155 (1) ◽  
pp. 1-7 ◽  
Author(s):  
Hiroshi Kanno ◽  
Jun-ichi Kuratsu ◽  
Ryo Nishikawa ◽  
Kazuhiko Mishima ◽  
Atushi Natsume ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Clinical Features ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease ◽  
Central Nervous System Hemangioblastoma

scholarly journals SURG-32. DIFFERENCES IN SURGICAL OUTCOME BETWEEN VON HIPPEL-LINDAU DISEASE RELATED AND SPORADIC HEMANGIOBLASTOMAS IN THE CENTRAL NERVOUS SYSTEM

2020 ◽  
Vol 22 (Supplement_2) ◽  
pp. ii210-ii210
Author(s):  
Shohei Nambu ◽  
Shunsaku Takayanagi ◽  
Hirokazu Takami ◽  
Taichi Kin ◽  
Shota Tanaka ◽  
...  
Keyword(s):  
Spinal Cord ◽  
Central Nervous System ◽  
Nervous System ◽  
Medulla Oblongata ◽  
Surgical Outcome ◽  
Vascular Tumor ◽  
Von Hippel Lindau ◽  
Significant Difference ◽  
Sporadic Cases ◽  
Vhl Disease

Abstract Central nervous system hemangioblastoma (CNS HB) is a benign but highly vascular tumor, which accounts for 1.7% of all intracranial tumors. CNS HBs predominantly arise in the cerebellum, brainstem, and spinal cord. Approximately 20% of CNS HB is related to von-Hippel-Lindau (VHL) disease and repeated surgical resections are often required in VHL patients due to the presence of multiple CNS HBs. To explore the differences of surgical effect between VHL disease related and sporadic CNS HBs, outcome analyses were performed based on the tumor locations. PATIENT AND METHODS: A total 83 cases that underwent surgical resections of CNS HBs at Tokyo University in 1996-2019 were included. Clinical information including age, sex, number of past surgical resections, pre- and post-operative modified Rankin Scale(mRS) were examined. RESULTS: Regarding the etiology, 46 VHL cases(cerebellum:30, medulla oblongata:6, spinal cord:10) and 37 sporadic cases (cerebellum: 28, medulla oblongata:4, spinal cord:5) were enrolled. The average changes in the postoperative mRS minus preoperative mRS were cerebellum -0.9/medulla oblongata -0.5/spinal cord -0.8 for VHL cases, and cerebellum -0.75/medulla oblongata -1/spinal cord -1 for sporadic cases. Fisher`s exact tests were used for between-group comparison. DISCUSSION: The study showed no statistically significant difference between cerebellar and spinal cord cases regarding the perioperative change in the patient capability. Because of multiple lesions and repeated surgeries, VHL patients have a possibility to present with worse neurology after surgery. Further analysis is needed to clarify differences in surgical outcome for VHL disease related and sporadic related CNS HBs.

scholarly journals Diagnosis, treatment, and misdiagnosis analysis of 28 cases of central nervous system echinococcosis

2021 ◽  
Vol 7 (1) ◽  
Author(s):  
Guojia Du ◽  
Yandong Li ◽  
Pan Wu ◽  
Xin Wang ◽  
Riqing Su ◽  
...  
Keyword(s):  
Spinal Cord ◽  
Central Nervous System ◽  
Nervous System ◽  
Clinical Features ◽  
Multiple Organ ◽  
Pathological Examination ◽  
Surgical Removal ◽  
Surgical Treatments

Abstract Background To explore central nervous system (CNS) involvement in this disease, from the perspectives of diagnosis, treatment, and misdiagnosis Methods Twenty-eight patients with CNS echinococcosis were included in this retrospective study, including 18 males (64.3%) and 10 (35.7%) females. The average age of all the patients were 23.5 years (ranged 4–60 years). Twenty-three (23) patients (82.1%) received the first surgical resection in our hospital. Five (5) patients (17.9%) gave up surgical treatment for multiple-organ hydatidosis and previous surgery history at other hospitals, and albendazole was applied for a long-term (3–6 months) adjunct therapy for the 5 patients. The average follow-up time was 8 years. Results For the 28 patients, 23 cases received surgical treatments, and the diagnosis was confirmed by pathological examinations. The diagnosis of 4 cases of brain echinococcosis and 2 cases of spinal cord echinococcosis could not be confirmed, resulting in a misdiagnosis rate of 21.4% (6/28). For the pathological examination, a total of 17 cases were infected with Echinococcus granulosus (including 2 cases of spinal cord echinococcosis), and 6 cases were infected with Echinococcus alveolaris. Conclusion The diagnosis should be specifically considered in endemic regions. The clinical features of CNS hydatidosis were intracranial space-occupying lesions. For the treatment, the surgical removal of cysts should be necessary. In addition, the adjuvant therapy with drug and intraoperative prophylaxis is also suggested. The misdiagnosis may have resulted from atypical clinical features and radiographic manifestations, as well as the accuracy of hydatid immunologic test.

scholarly journals Adrenal Cortex-Sparing Surgery for Bilateral Multiple Pheochromocytomas in a Patient with Von Hippel-Lindau Disease

2012 ◽  
Vol 2012 ◽  
pp. 1-5 ◽  
Author(s):  
Tarık Esen ◽  
Ömer Acar ◽  
Ahmet Tefekli ◽  
Ahmet Musaoğlu ◽  
İzzet Rozanes ◽  
...  
Keyword(s):  
Adrenal Cortex ◽  
Adrenocortical Function ◽  
Renal Masses ◽  
Von Hippel Lindau ◽  
Pancreatic Masses ◽  
Adrenal Pheochromocytoma ◽  
Von Hippel Lindau Disease ◽  
Vhl Disease

Pheochromocytomas can be a part of familial neoplastic syndromes, in which case they tend to be multiple and involve both adrenal glands. Therefore, sparing adrenocortical function represents a major concern while dealing with these hereditary lesions. Herein, we describe the clinical characteristics and the management strategy of a patient with von Hippel-Lindau (VHL) disease who had multiple, bilateral pheochromocytomas as well as bilateral renal masses, pancreatic masses, and a paracaval mass. Only a portion of the left adrenal gland has remained in situ after two consecutive open surgeries and a percutaneous radiofrequency ablation which have been performed to treat the various components of this syndrome. No adrenal or extra-adrenal pheochromocytoma recurrences have been detected during a follow-up period of more than 2 years. Pancreatic and adrenal functions were normal throughout the postoperative period and never necessitated any replacement therapy. Adrenal cortex-sparing surgery is a valid option for VHL disease patients who present with synchronous bilateral adrenal pheochromocytomas.

Endocrine Manifestations of von Hippel–Lindau Disease

2015 ◽  
Vol 139 (2) ◽  
pp. 263-268 ◽  
Author(s):  
Clarissa Cassol ◽  
Ozgur Mete
Keyword(s):  
Neuroendocrine Tumors ◽  
Autosomal Dominant ◽  
Suppressor Gene ◽  
Autosomal Dominant Disorder ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease ◽  
Sporadic Cases ◽  
Vhl Disease

von Hippel–Lindau (VHL) disease is an autosomal dominant disorder caused by heterozygous mutations in the VHL tumor suppressor gene that is characterized by the occurrence of multiple endocrine and nonendocrine lesions. This review focuses on the endocrine manifestations of VHL disease. Pancreatic neuroendocrine proliferations (ductuloinsular complexes, islet dysplasia, endocrine microadenoma, and neuroendocrine tumors), pheochromocytomas, and extra-adrenal paragangliomas are important endocrine manifestations of VHL disease. They frequently display characteristic clinical, biochemical, and histopathologic features that, although not pathognomonic, can be helpful in suggesting VHL disease as the underlying etiology and distinguishing these tumors from sporadic cases. Recent improvements in treatment and outcomes of renal cell carcinomas have allowed pancreatic neuroendocrine tumors to emerge as a significant source of metastatic disease, making the accurate recognition and classification of these neoplasms by the pathologist of utmost importance to determine prognosis, treatment, and follow-up strategies for affected patients.

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