scholarly journals Multiple VHL-related hemangioblastomas and holocord syrinx: identifying the causative lesion. Illustrative case

2021 ◽  
Vol 2 (11) ◽  
Author(s):  
Armin Mortazavi ◽  
Diana Nwokoye ◽  
David T. Asuzu ◽  
Gretchen Scott ◽  
Panagiotis Mastorakos ◽  
...  
Keyword(s):  
Spinal Cord ◽  
Surgical Intervention ◽  
Neurological Deficits ◽  
Illustrative Case ◽  
Significant Morbidity ◽  
Common Cause ◽  
Von Hippel Lindau ◽  
Treatment Plans ◽  
Vhl Disease ◽  
Common Manifestation

BACKGROUND Brainstem and spinal cord hemangioblastomas are a common manifestation of von Hippel–Lindau (VHL) disease. Cysts and associated syringes are the most common cause of significant morbidity in these patients. Surgical treatment of symptomatic hemangioblastomas are often complicated by the presence of multiple potential lesions, leading to cyst and syrinx formation. OBSERVATIONS The authors present a case of a patient with multiple VHL-related hemangioblastomas who presented with syringobulbia and holocord syrinx. Resection of two cyst wall hemangioblastomas and one cervical hemangioblastoma only transiently improved syringobulbia. Eventual resolution of syringobulbia and collapse of the holocord syrinx only occurred following removal of a large lower thoracic hemangioblastoma. LESSONS Surgical management of hemangioblastomas and associated cysts in patients with VHL should only target lesions most likely contributing to neurological deficits as excess surgical intervention risks treatment-related morbidity. The authors illustrate how anatomical and pathophysiological considerations as well as patient symptoms are key to identifying target lesions for resection and developing deliberate treatment plans.

Surgical management of spinal cord hemangioblastomas in patients with von Hippel—Lindau disease

2003 ◽  
Vol 98 (1) ◽  
pp. 106-116 ◽  
Author(s):  
Russell R. Lonser ◽  
Robert J. Weil ◽  
John E. Wanebo ◽  
Hetty L. Devroom ◽  
Edward H. Oldfield
Keyword(s):  
Spinal Cord ◽  
Surgical Management ◽  
Postoperative Outcome ◽  
Tumor Location ◽  
Neurological Dysfunction ◽  
Autosomal Dominant Disorder ◽  
Content Type ◽  
Von Hippel Lindau ◽  
Vhl Disease ◽  
Fine Print

Object. Von Hippel—Lindau (VHL) disease is an autosomal-dominant disorder frequently associated with hemangioblastomas of the spinal cord. Because of the slow progression, protean nature, and high frequency of multiple spinal hemangioblastomas associated with VHL disease, the surgical management of these lesions is complex. Because prior reports have not identified the factors that predict which patients with spinal cord hemangioblastomas need surgery or what outcomes of this procedure should be expected, the authors have reviewed a series of patients with VHL disease who underwent resection of spinal hemangioblastomas at a single institution to identify features that might guide surgical management of these patients. Methods. Forty-four consecutive patients with VHL disease (26 men and 18 women) who underwent 55 operations with resection of 86 spinal cord hemangioblastomas (mean age at surgery 34 years; range 20–58 years) at the National Institutes of Health were included in this study (mean clinical follow up 44 months). Patient examination, review of hospital charts, operative findings, and magnetic resonance imaging studies were used to analyze surgical management and its outcome. To evaluate the clinical course, clinical grades were assigned to patients before and after surgery. Preoperative neurological status, tumor size, and tumor location were predictive of postoperative outcome. Patients with no or minimal preoperative neurological dysfunction, with lesions smaller than 500 mm3, and with dorsal lesions were more likely to have no or minimal neurological impairment. Syrinx resolution was the result of tumor removal and was not influenced by whether the syrinx cavity was entered. Conclusions. Spinal cord hemangioblastomas can be safely removed in the majority of patients with VHL disease. Generally in these patients, hemangioblastomas of the spinal cord should be removed when they produce symptoms or signs.

The natural history of hemangioblastomas of the central nervous system in patients with von Hippel—Lindau disease

2003 ◽  
Vol 98 (1) ◽  
pp. 82-94 ◽  
Author(s):  
John E. Wanebo ◽  
Russell R. Lonser ◽  
Gladys M. Glenn ◽  
Edward H. Oldfield
Keyword(s):  
Spinal Cord ◽  
Natural History ◽  
Mass Effect ◽  
Content Type ◽  
Von Hippel Lindau ◽  
History Of ◽  
The Central Nervous System ◽  
Brainstem Tumors ◽  
Vhl Disease ◽  
Fine Print

Object. The goals of this study were to define the natural history and growth pattern of hemangioblastomas of the central nervous system (CNS) that are associated with von Hippel—Lindau (VHL) disease and to correlate features of hemangioblastomas that are associated with the development of symptoms and the need for treatment. Methods. The authors reviewed serial magnetic resonance images and clinical histories of 160 consecutive patients with VHL disease who harbored CNS hemangioblastomas and serially measured the volumes of tumors and associated cysts. Six hundred fifty-five hemangioblastomas were identified in the cerebellum (250 tumors), brainstem (64 tumors, all of which were located in the posterior medulla oblongata), spinal cord (331 tumors, 96% of which were located in the posterior half of spinal cord), and the supratentorial brain (10 tumors). The symptoms were related to a mass effect. A serial increase in hemangioblastoma size was observed in cerebellar, brainstem, and spinal cord tumors as patients progressed from being asymptomatic to symptomatic and requiring surgery (p < 0.0001). Twenty-one (72%) of 29 symptom-producing cerebellar tumors had an associated cyst, whereas only 28 (13%) of 221 nonsymptomatic cerebellar tumors had tumor-associated cysts (p < 0.0001). Nine (75%) of 12 symptomatic brainstem tumors had associated cysts, compared with only four (8%) of 52 nonsymptomatic brainstem lesions (p < 0.0001). By the time the symptoms appeared and surgery was required, the cyst was larger than the causative tumor; cerebellar and brainstem cysts measured 34 and 19 times the size of their associated tumors at surgery, respectively. Ninety-five percent of symptom-producing spinal hemangioblastomas were associated with syringomyelia. The clinical circumstance was dynamic. Among the 88 patients who had undergone serial imaging for 6 months or longer (median 32 months), 164 (44%) of 373 hemangioblastomas and 37 (67%) of 55 tumor-associated cysts enlarged. No tumors or cysts spontaneously diminished in size. Symptomatic cerebellar and brainstem tumors grew at rates six and nine times greater, respectively, than asymptomatic tumors in the same regions. Cysts enlarged seven (cerebellum) and 15 (brainstem) times faster than the hemangioblastomas causing them. Hemangioblastomas frequently demonstrated a pattern of growth in which they would enlarge for a period of time (growth phase) and then stabilize in a period of arrested growth (quiescent phase). Of 69 patients with documented tumor growth, 18 (26%) harbored tumors with at least two growth phases. Of 160 patients with hemangioblastomas, 34 patients (median follow up 51 months) were found to have 115 new hemangioblastomas and 15 patients new tumor-associated cysts. Conclusions. In this study the authors define the natural history of CNS hemangioblastomas associated with VHL disease. Not only were cysts commonly associated with cerebellar, brainstem, and spinal hemangioblastomas, the pace of enlargement was much faster for cysts than for hemangioblastomas. By the time symptoms appeared, the majority of mass effect—producing symptoms derived from the cyst, rather than from the tumor causing the cyst. These tumors often have multiple periods of tumor growth separated by periods of arrested growth, and many untreated tumors may remain the same size for several years. These characteristics must be considered when determining the optimal timing of screening for individual patients and for evaluating the timing and results of treatment.

Phase II study of pazopanib in patients with von Hippel-Lindau disease.

2017 ◽  
Vol 35 (15_suppl) ◽  
pp. 4516-4516 ◽  
Author(s):  
Eric Jonasch ◽  
Dan S. Gombos ◽  
Steven G. Waguespack ◽  
Valerie Marcott ◽  
Diane D Liu ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Clinical Features ◽  
Surgical Intervention ◽  
Standards Of Care ◽  
Common Side Effect ◽  
Drug Discontinuation ◽  
Best Interest ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease ◽  
Vhl Disease

4516 Background: Von Hippel-Lindau disease (VHL) is an autosomal dominant inherited disorder. Affected individuals develop vascular neoplastic lesions in multiple sites including eye, brain, pancreas, adrenal and kidney. Standards of care include surveillance imaging and surgical intervention. We hypothesized that treatment of VHL related lesions with an antiangiogenic agent would result in shrinkage of all lesion types. We chose the multikinase inhibitor pazopanib to test this hypothesis. Methods: After obtaining IRB approval, patients with clinical features or genetic confirmation of VHL disease and with measurable lesions were treated with pazopanib 800mg PO daily for two 12-week cycles. Efficacy was determined by RECIST after two cycles. Patients had the option to continue therapy if considered in patient’s best interest. Continuous monitoring for any lesion progression and drug discontinuation due to toxicity during the whole period of the treatment was planned. Results: Patients were enrolled (N=32) and treated (N=31) between 1/2012 and 6/2016. Median age was 37 (range 19-67). 23 patients had genomically confirmed VHL disease; four had family and personal history but had not undergone genetic testing, and five patients had clinical features of VHL disease and negative genetic testing. A median of two cycles (range 1-12) of therapy was administered. Of 31 evaluable patients, 13 (42%) showed a response, 18 patients had stable disease and no patients had PD as best response. Responses were seen in renal (2 CR and 29 PR/59 total), pancreatic (9 PR/17 total) and CNS 2 PR/49 total) target lesions. The most common side effect was diarrhea (grades 1 and 2) experienced in 14 patients. Twelve patients dose reduced to 600 mg and 6 to 400 mg pazopanib PO daily. Eight patients discontinued therapy due to adverse events of whom 4 experienced transaminitis. One patient experienced a grade V CNS hemorrhage. Conclusions: This is the largest prospective VHL disease specific therapeutic study performed to date. Pazopanib resulted in significant and sustained disease control for the majority of VHL patients enrolled on the study, with an acceptable safety profile. This agent may be considered as an alternative to surgical intervention in patients with VHL disease. Clinical trial information: NCT01436227.

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. 

scholarly journals Spinal cord hemangioblastomas: significance of intraoperative neurophysiological monitoring for resection and long-term outcome

2017 ◽  
Vol 26 (4) ◽  
pp. 483-493 ◽  
Author(s):  
Sebastian Siller ◽  
Andrea Szelényi ◽  
Lisa Herlitz ◽  
Joerg Christian Tonn ◽  
Stefan Zausinger
Keyword(s):  
Spinal Cord ◽  
Intraoperative Neurophysiological Monitoring ◽  
Neurophysiological Monitoring ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Von Hippel Lindau ◽  
Sensorimotor Deficits ◽  
Vhl Disease

OBJECTIVE Spinal cord hemangioblastomas are rare benign tumors developing either sporadically or as part of von Hippel-Lindau (VHL) disease. Generally, resection is the treatment of choice. However, the significance of intraoperative neurophysiological monitoring (IONM) for resection and postoperative outcome is still controversial. The authors analyzed the surgical and clinical courses of patients who had undergone resection of spinal cord hemangioblastoma, with special attention to preoperative imaging, the use of IONM, and short- and long-term outcomes. METHODS A series of 24 patients (male/female 1:1, lesion sporadic/associated with VHL 2.4:1) who had undergone 26 operations for the resection of 27 spinal cord hemangioblastomas was analyzed. All patients had undergone pre- and postoperative contrast-enhanced MRI. In all cases, microsurgical tumor removal had been performed under continuous IONM of both somatosensory and transcranial motor evoked potentials as well as electromyographic recording. Clinical characteristics, imaging findings, and operative records were retrospectively analyzed. Outcome parameters included short- and long-term status as regards sensorimotor deficits and a questionnaire on general performance, patient satisfaction, and Oswestry Disability Index (ODI) at the end of the follow-up period. The impact of IONM findings on postoperative deficits and outcome parameters as well as risk factors affecting functional prognosis was statistically assessed. RESULTS Preoperative symptoms (mean duration 16.2 ± 22.0 months) included sensory changes (100.0%), pain (66.7%), spinal ataxia (66.7%), motor deficit (41.7%), and bladder/bowel dysfunction (12.5%). Average age at the first operation was 36.8 ± 12.8 years. Most tumors (21 intramedullary, 6 intra- and/or extramedullary) were located dorsally (92.6%) and cervically (77.8%) and were accompanied by peritumoral edema and/or syringomyelia (81.5%). Tumor resection was achieved via laminectomy for 15 tumors, hemilaminectomy for 5, laminoplasty for 6, and interlaminar approach for 1. Gross-total resection was accomplished for 26 tumors (96.3%) with no local tumor recurrence during follow-up. Intraoperative neurophysiological monitoring was nonpathological in 11 operations (42.3%) and pathological in 15 (57.7%). Patients with nonpathological IONM had significantly fewer new sensorimotor deficits (p = 0.005). Long-term follow-up evaluation (mean 7.9 ± 4.0 years postoperatively, 7 patients lost to follow-up) revealed a stable or improved McCormick myelopathy grade in 88.2% of the patients, and 88.2% reported a stable or improved overall outcome according to Odom's criteria. Long-term general performance was excellent with 88.2% having a WHO/Eastern Cooperative Oncology Group (ECOG) Performance Status grade ≤ 1, 76.5% a Karnofsky Performance Scale score ≥ 80, and 70.6% a Barthel Index (BI) of 100. The mean ODI (11.4% ± 12.5%) indicated only minimal disability. There was a significant correlation between pathological IONM findings and a worse long-term status according to the BI and ODI (p = 0.011 and 0.024, respectively). Additionally, VHL disease was a risk factor affecting functional prognosis (p = 0.044). CONCLUSIONS Microsurgical removal of spinal cord hemangioblastomas with IONM facilitates a satisfying long-term outcome for patients. Nonpathological IONM findings are associated with a lower risk of new sensorimotor deficits and correlate with a better overall long-term outcome. von Hippel–Lindau disease is a risk factor for a worse long-term prognosis.

Functional outcome after resection of spinal cord hemangioblastomas associated with von Hippel-Lindau disease

2010 ◽  
Vol 12 (3) ◽  
pp. 233-242 ◽  
Author(s):  
Gautam U. Mehta ◽  
Ashok R. Asthagiri ◽  
Kamran D. Bakhtian ◽  
Sungyoung Auh ◽  
Edward H. Oldfield ◽  
...  
Keyword(s):  
Spinal Cord ◽  
Effective Means ◽  
Neurological Function ◽  
Von Hippel Lindau ◽  
Presenting Symptoms ◽  
Increased Risk ◽  
Functional Scores ◽  
Vhl Disease

Object Spinal cord hemangioblastomas are a common protean manifestation of von Hippel-Lindau (VHL) disease and can be associated with significant morbidity. To better define expected outcome and optimal management of these tumors in the context of this neoplasia syndrome, the authors analyzed the findings from patients with VHL disease who underwent resection of spinal cord hemangioblastomas. Methods Consecutive patients with VHL disease who underwent surgery for spinal cord hemangioblastomas with > 6 months follow-up were included in the study. Serial clinical examinations, functional scores, imaging findings, and operative records were analyzed. Results One hundred eight patients (57 male, 51 female) underwent 156 operations for resection of 218 spinal cord hemangioblastomas. One hundred forty-six operations (94%) were performed for symptom-producing tumors. The most common presenting symptoms included hypesthesia (64% of resections), hyperreflexia (57%), dysesthesia (43%), and weakness (36%). Mean follow-up was 7.0 ± 5.0 years (range 0.5–20.9 years). Complete resection was achieved for 217 tumors (99.5%). At 6-months follow-up, patients were stable or improved after 149 operations (96%) and worse after 7 operations (4%). Ventral tumors (OR 15.66, 95% CI 2.54–96.45; p = 0.003) or completely intramedullary tumors (OR 10.74, 95% CI 2.07–55.66; p = 0.005) were associated with an increased risk of postoperative worsening. The proportion of patients remaining functionally stable at 2, 5, 10, and 15 years' follow-up was 93, 86, 78, and 78%. Long-term functional decline was caused by extensive VHL-associated CNS disease (6 patients), VHL-associated visceral disease (1 patient), or non-VHL disease (2 patients). Conclusions Resection of symptomatic spinal cord hemangioblastomas is a safe and effective means of preserving neurological function in patients with VHL disease. Tumor location (ventral or completely intramedullary) can be used to assess functional risk associated with surgery. Long-term decline in neurological function is usually caused by VHL-associated disease progression.

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.

Comparison of anterior and posterior surgical approaches in the treatment of ventral spinal hemangioblastomas in patients with von Hippel—Lindau disease

2003 ◽  
Vol 98 (1) ◽  
pp. 117-124 ◽  
Author(s):  
Ryszard M. Pluta ◽  
Brian Iuliano ◽  
Hetty L. Devroom ◽  
Tung Nguyen ◽  
Edward H. Oldfield
Keyword(s):  
Spinal Cord ◽  
Anterior Approach ◽  
Posterior Approach ◽  
Long Term Results ◽  
Surgical Approaches ◽  
Content Type ◽  
Von Hippel Lindau ◽  
Vhl Disease ◽  
Ventral Spinal Cord ◽  
Fine Print

Object. Von Hippel—Lindau (VHL) disease is an autosomal-dominant neoplastic syndrome with manifestations in multiple organs, which is evoked by the deletion or mutation of a tumor suppressor gene on chromosome 3p25. Spinal hemangioblastomas (40% of VHL disease—associated lesions of the central nervous system) arise predominantly in the posterior aspect of the spinal cord and are often associated with an intraspinal cyst. Rarely, the tumor develops in the anterior aspect of the spinal cord. Ventral spinal hemangioblastomas are a surgical challenge because of difficult access and because vessels feeding the tumor originate from the anterior spinal artery. The goal of this study was to clarify whether an anterior or posterior surgical approach is better for management of hemangioblastomas of the ventral spinal cord. Methods. The authors performed a retrospective analysis of clinical outcomes and findings on magnetic resonance (MR) imaging studies in eight patients (two women and six men with a mean age of 34 ± 15 years) who underwent resection of ventral spinal hemangioblastomas (nine tumors: five cervical and four thoracic). Two surgical approaches were used to resect these tumors. A posterior approach was selected to treat five patients (laminectomy and posterior myelotomy in four patients and the posterolateral approach in one patient); an anterior approach (corpectomy and arthrodesis) was selected to treat the remaining three patients. Immediately after surgery, the ability to ambulate remained unchanged in patients in whom an anterior approach had been performed, but deteriorated significantly in patients in whom a posterior approach had been used, because of motor weakness (four of five patients) and/or proprioceptive sensory loss (three of five patients). This difference in ambulation, despite significant improvements over time among patients in the posterior access group, remained significant 6 months after surgery. In all cases, MR images revealed complete resection of the tumor and in five patients significant or complete resolution of the intramedullary cyst was demonstrated (present in six of eight patients). Conclusions. The outcomes of these eight patients with hemangioblastomas of the ventral spinal cord indicate that both immediate and long-term results are better when an anterior approach is selected for resection.

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.

Long-term natural history of hemangioblastomas in patients with von Hippel–Lindau disease: implications for treatment

2006 ◽  
Vol 105 (2) ◽  
pp. 248-255 ◽  
Author(s):  
Joshua M. Ammerman ◽  
Russell R. Lonser ◽  
James Dambrosia ◽  
John A. Butman ◽  
Edward H. Oldfield
Keyword(s):  
Spinal Cord ◽  
Growth Rates ◽  
Tumor Size ◽  
Radiographic Progression ◽  
Symptom Development ◽  
Von Hippel Lindau ◽  
Need For Treatment ◽  
Vhl Disease ◽  
Symptom Formation ◽  
Cyst Growth

Object In the course of their lives most patients with von Hippel–Lindau (VHL) disease require treatment for several symptom-producing hemangioblastomas of the cerebellum, brainstem, or spinal cord. However, many tumors never produce symptoms and do not require treatment. Detection at an early stage of lesions that will later produce symptoms and ultimately require treatment would allow for earlier excision of hemangioblastomas of the spinal cord, brainstem, or cerebellum, and may identify cerebellar hemangioblastomas that can be treated with radiosurgery at a stage before treatment is contraindicated because of tumor size or the presence of an associated cyst. Methods To identify features predictive of symptom development that might allow for earlier treatment of smaller, presymptomatic hemangioblastomas in patients with VHL disease, the authors reviewed and analyzed the serial clinical and imaging findings in all patients with VHL disease who were followed up at the National Institutes of Health for more than 10 years. Features predictive of symptom formation were determined by recursive partition and regression analyses. Nineteen patients (10 men and nine women; mean age 32.6 ± 11.6 years) harboring a total of 143 hemangioblastomas were identified (mean follow-up duration 12.4 ± 1.4 years). Hemangioblastomas were located in the cerebellum (68 hemangioblastomas, 48% of patients), brainstem (17 hemangioblastomas, 12% of patients), and spinal cord (58 hemangioblastomas, 40% of patients). Despite measurable growth in almost all hemangioblastomas (138 lesions, 97% of patients), only 58 (41% of patients) became symptomatic. Hemangioblastomas grew in a stuttering pattern. (mean growth period 13 ± 15 months, mean quiescent period 25 ± 19 months). Twenty-six (45%) of the hemangioblastomas that eventually produced symptoms were not among the tumors that were apparent on the initial MR imaging study. Depending on location, the hemangioblastoma size and/or tumor and cyst growth rates predicted symptom development and the need for treatment (p < 0.05). Cerebellar hemangioblastomas growing faster than 112 mm3/ month or larger than 69 mm3 with associated tumor and cyst growth rates greater than 14 mm3/month became symptomatic (100% sensitivity, 72% specificity). Brainstem hemangioblastomas larger than 245 mm3 with growth rates greater than 0.1 mm3/month became symptomatic (75% sensitivity, 89% specificity). Spinal hemangioblastomas larger than 22 mm3 became symptomatic (79% sensitivity, 94% specificity). Conclusions Because hemangioblastomas exhibit a stuttering growth pattern, frequently remain asymptomatic, and do not require treatment for long intervals, unqualified radiographic progression is not an indication for treatment. Basing the decision to intervene in individual tumors solely on radiographic progression would have resulted in approximately four additional procedures per patient during the 10-year study period. Threshold values are presented for tumor size and/or tumor and cyst growth rates that can be used to predict symptom formation and future need for treatment.

Sign in / Sign up

Export Citation Format

Share Document