Von Hippel-Lindau Disease in a Large British Family: Clinicopathological Features and Recommendations for Screening and Follow-up

QJM ◽  
1988 ◽  
Keyword(s):  
Clinicopathological Features ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease

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.

scholarly journals Novel insights into the polycythemia–paraganglioma–somatostatinoma syndrome

2016 ◽  
Vol 23 (12) ◽  
pp. 899-908 ◽  
Author(s):  
Roland Därr ◽  
Joan Nambuba ◽  
Jaydira Del Rivero ◽  
Ingo Janssen ◽  
Maria Merino ◽  
...  
Keyword(s):  
Gallbladder Disease ◽  
Hypoxia Inducible Factor ◽  
Somatic Mosaicism ◽  
Clinical Aspects ◽  
Von Hippel Lindau ◽  
Pet Ct ◽  
Von Hippel Lindau Disease ◽  
Long Term Prognosis

Worldwide, the syndromes of paraganglioma (PGL), somatostatinoma (SOM) and early childhood polycythemia are described in only a few patients with somatic mutations in the hypoxia-inducible factor 2 alpha (HIF2A). This study provides detailed information about the clinical aspects and course of 7 patients with this syndrome and brings into perspective these experiences with the pertinent literature. Six females and one male presented at a median age of 28 years (range 11–46). Two were found to have HIF2A somatic mosaicism. No relatives were affected. All patients were diagnosed with polycythemia before age 8 and before PGL/SOM developed. PGLs were found at a median age of 17 years (range 8–38) and SOMs at 29 years (range 22–38). PGLs were multiple, recurrent and metastatic in 100, 100 and 29% of all cases, and SOMs in 40, 40 and 60%, respectively. All PGLs were primarily norepinephrine-producing. All patients had abnormal ophthalmologic findings and those with SOMs had gallbladder disease. Computed tomography (CT) and magnetic resonance imaging revealed cystic lesions at multiple sites and hemangiomas in 4 patients (57%), previously thought to be pathognomonic for von Hippel–Lindau disease. The most accurate radiopharmaceutical to detect PGL appeared to be [18F]-fluorodihydroxyphenylalanine ([18F]-FDOPA). Therefore, [18F]-FDOPA PET/CT, not [68Ga]-(DOTA)-[Tyr3]-octreotate ([68Ga]-DOTATATE) PET/CT is recommended for tumor localization and aftercare in this syndrome. The long-term prognosis of the syndrome is unknown. However, to date no deaths occurred after 6 years follow-up. Physicians should be aware of this unique syndrome and its diagnostic and therapeutic challenges.

Optimal follow-up intervals in active surveillance of renal masses in patients with von Hippel-Lindau disease

2015 ◽  
Vol 25 (7) ◽  
pp. 2025-2032
Author(s):  
Fabio Pomerri ◽  
Giuseppe Opocher ◽  
Chiara Dal Bosco ◽  
Pier Carlo Muzzio ◽  
Gisella Gennaro
Keyword(s):  
Active Surveillance ◽  
Renal Masses ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease

scholarly journals Oral Propranolol in Von Hippel Lindau Ocular Affection

2021 ◽  
Author(s):  
BEATRIZ GONZÁLEZ-RODRÍGUEZ ◽  
MARIA GONZÁLEZ-RODRÍGUEZ ◽  
NATALIA BEJARANO RAMÍREZ ◽  
ROSA MARÍA JIMÉNEZ ESCRIBANO ◽  
FRANCISCO JAVIER REDONDO CALVO
Keyword(s):  
Visual Acuity ◽  
Malignant Tumors ◽  
Anterior Segment ◽  
First Year ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease ◽  
Promising Treatment ◽  
Vhl Disease ◽  
Oral Propranolol

Abstract Purpose. von Hippel Lindau (VHL) disease is a familiar syndrome associated with benign and malignant tumors. These tumors appear in the retina, cerebellum, spinal cord, and kidney. Retinal hemangioblastomas are one of the earliest and most frequent manifestations of this entity, and they can lead to blindness at a young age. Propranolol could be a promising treatment for retinal hemangioblastomas in von Hippel Lindau disease. Methods. Prospective cohort study. Seven patients with VHL disease and ocular affection that had rejected conventional treatment were included. Prospective analysis of seven patients was performed. We evaluated them for three years, with a complete ophthalmic evaluation that included: visual acuity, intraocular pressure, an examination of the anterior segment of the eye, fundoscopy, retinography, and optical coherence tomography (OCT). Heart rate and blood pressure on each patient were also measured. During the follow-up evaluation, two patients discontinued the treatment with propranolol after the first year and rejected any further treatment for their ocular affection; the rest continued therapy for the three years. Results: Visual acuity and tumor areas remained stable in 4 patients. Increased and new retinal exudation area was found in the two patients that discontinued the treatment with oral propranolol. Conclusions: Oral propranolol has shown a role in the reabsorption of retinal exudates in patients with von Hippel Lindau affection. It could delay or stabilize the ocular disease, maintaining visual acuity, and avoiding further complications in these patients. It is a well-known and available drug, without so many secondary effects, that could also have a role in other ocular diseases that course with exudation.

STEREOTACTIC RADIOSURGICAL TREATMENT OF CRANIAL AND SPINAL HEMANGIOBLASTOMAS

Neurosurgery ◽  
2009 ◽  
Vol 65 (1) ◽  
pp. 79-85 ◽  
Author(s):  
Jason M. Moss ◽  
Clara Y.H. Choi ◽  
John R. Adler ◽  
Scott G. Soltys ◽  
Iris C. Gibbs ◽  
...  
Keyword(s):  
Stereotactic Radiosurgery ◽  
Treatment Effectiveness ◽  
Attractive Alternative ◽  
Von Hippel Lindau ◽  
Spinal Lesions ◽  
Large Patient ◽  
Von Hippel Lindau Disease ◽  
The Mean

ABSTRACT OBJECTIVE Stereotactic radiosurgery has been used for nearly 2 decades to treat hemangioblastomas, particularly those that are in surgically inaccessible locations or that are multiple, as is common in von Hippel-Lindau disease. There is a paucity of long-term published radiosurgical treatment outcomes, particularly for spinal lesions, in a large patient population. The purpose of this study was to provide a long-term retrospective evaluation of radiosurgical hemangioblastoma treatment effectiveness, with a special emphasis on the relatively recent use of frameless, image-guided radiosurgery in the treatment of spinal lesions. METHODS From 1991 to 2007, 92 hemangioblastomas in 31 patients, 26 with von Hippel-Lindau disease, were treated with radiosurgery (27 tumors treated with frame-based linear accelerator radiosurgery, and 67 tumors were treated with CyberKnife radiosurgery). The mean patient age was 41 years (range, 18–81 years). The radiation dose to the tumor periphery averaged 23.4 Gy (range, 12–40 Gy). The mean tumor volume was 1.8 cm3 (range, 0.058–65.4 cm3). Tumor response was evaluated in serial, contrast-enhanced, computed tomographic, and magnetic resonance imaging scans. RESULTS Clinical and radiographic follow-up data were available for 82 hemangioblastoma tumors. Only 13 (16%) of the treated hemangioblastomas progressed, whereas 18 tumors (22%) showed radiographic regression, and 51 tumors (62%) remained unchanged in size. With median follow-up of 69 months (range, 5–164 months), the actuarial local control rates at 36 and 60 months were 85% and 82%, respectively. Radiosurgery improved lesion-associated symptoms in 36 of 41 tumors. During the follow-up period, 9 patients died of causes unrelated to the progression of their treated hemangioblastomas, and 5 patients developed radiation necrosis. CONCLUSION Stereotactic radiosurgery is safe and effective in the treatment of hemangioblastomas and is an attractive alternative to surgery for patients, including those with von Hippel-Lindau disease.

Treatment of Intramedullary Hemangioblastomas, with Special Attention to von Hippel-Lindau Disease

Neurosurgery ◽  
2003 ◽  
Vol 53 (6) ◽  
pp. 1306-1314 ◽  
Author(s):  
Vera Van Velthoven ◽  
Peter C. Reinacher ◽  
Joachim Klisch ◽  
Hartmut P.H. Neumann ◽  
Sven Gläsker
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Timing Of Surgery ◽  
Vascular Tumors ◽  
Resonance Imaging ◽  
Surgical Morbidity ◽  
Von Hippel Lindau ◽  
Asymptomatic Patients ◽  
Von Hippel Lindau Disease

Abstract OBJECTIVE Hemangioblastomas of the central nervous system are rare vascular tumors that can occur as sporadic lesions or as component tumors of autosomal dominant von Hippel-Lindau disease. With the availability of magnetic resonance imaging, asymptomatic tumors are detected more frequently, especially among patients with von Hippel-Lindau disease, and the questions of whether and when these lesions should be treated arise. To identify surgical outcomes and the timing of surgery for intramedullary hemangioblastomas, we retrospectively analyzed data for a series of 28 consecutive patients whom we surgically treated for intramedullary hemangioblastomas in the past 10 years. METHODS All tumors were completely removed. Functional grades, according to the McCormick scale, were determined before and after surgery and in follow-up assessments. Several clinical characteristics were correlated with changes in functional grades in follow-up assessments, compared with preoperative grades. RESULTS Functional grades in follow-up assessments improved for 28.6% of the patients and remained unchanged for 71.4%. No patient was in worse condition, compared with preoperative status. Peritumoral edema on preoperative magnetic resonance imaging scans was correlated with significantly higher surgical morbidity rates. Four asymptomatic patients were surgically treated because of tumor or pseudocyst progression on serial magnetic resonance imaging scans. All of those patients remained asymptomatic postoperatively. CONCLUSION Intramedullary hemangioblastomas can be removed with low surgical morbidity rates and excellent long-term prognoses. The timing of surgery for patients with von Hippel-Lindau disease and multiple lesions remains a matter of debate. On the basis of our data, we established the strategy of operating also on asymptomatic lesions that exhibit radiological progression, before significant neurological deficits occur, which are often not reversible.

Safety of Radiosurgery Applied to Conditions with Abnormal Tumor Suppressor Genes

Neurosurgery ◽  
2007 ◽  
Vol 60 (5) ◽  
pp. 860-864 ◽  
Author(s):  
Jeremy Rowe ◽  
Alison Grainger ◽  
Lee Walton ◽  
Matthias Radatz ◽  
Andras Kemeny
Keyword(s):  
Cohort Study ◽  
Tumor Suppressor Genes ◽  
Retrospective Cohort ◽  
Treatment Options ◽  
The Other ◽  
Von Hippel Lindau ◽  
Increased Risk ◽  
Risk Of Malignancy ◽  
Von Hippel Lindau Disease

Abstract OBJECTIVE To assess the risk of radiosurgery inducing malignancy in neurofibromatosis-2 (NF2) and von Hippel-Lindau disease. METHODS A retrospective cohort study of 118 NF2 and 19 von Hippel-Lindau disease patients, totalling 906 and 62 patient-years of follow-up data, respectively. RESULTS Two cases of intracranial malignancy were identified, both of which occurred in NF2 patients. One of these was thought to have arisen before the radiosurgery; the other was a glioblastoma diagnosed 3 years after radiosurgery. CONCLUSION Because gliomas may occur in as many as 4% of NF2 patients, this may not represent an increased risk. We continue to offer radiosurgery treatment to selected NF2 and von Hippel-Lindau disease patients and consider that the late risk of malignancy arising after irradiation must be put in the context of the condition being treated, the treatment options available to these individuals, and their life expectancy.

scholarly journals Repeat Percutaneous Radiofrequency Ablation of T1 Renal Cell Carcinomas is Safe in Patients with Von Hippel–Lindau Disease

2021 ◽  
Author(s):  
Joel Wessendorf ◽  
Alexander König ◽  
Hendrik Heers ◽  
Andreas H. Mahnken
Keyword(s):  
Radiofrequency Ablation ◽  
Renal Cell ◽  
Case Series ◽  
Progression Free Survival ◽  
Renal Cell Carcinomas ◽  
Ct Guided ◽  
Free Survival ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease

Abstract Purpose Patients with Von Hippel-Lindau disease often develop multifocal, metachronous renal cell carcinomas which require therapy. The purpose of this retrospective single-center study is to evaluate the outcomes of radiofrequency ablation (RFA) in the treatment of renal cell carcinomas in patients with Von Hippel-Lindau disease. Materials and Methods 9 patients (4 male, 5 female, 47.9 ± 10.7 y/o) with Von Hippel-Lindau disease underwent 18 CT-guided percutaneous RFA procedures for the treatment 21 renal cell carcinomas (largest diameter: 32.9 ± 8.6 mm, cT1a: 16, cT1b: 5). Seven patients were previously treated either by partial or radical nephrectomy. Technical success, effectiveness, safety, progression-free survival, overall survival and tumor characteristics were analyzed. Results All RFA procedures were technically successful without major complications. There were 5 minor complications. No residual or recurrent tumor was seen in the ablation zone during a follow-up of 34.0 ± 18.1 months (0–58 months). No patient required dialysis during follow-up. One patient died after 63 months after the first treatment due to complications from a cerebellar hemangioblastoma. No endpoint was reached for overall or progression-free survival. Conclusions The results from this limited case series suggest that RFA of RCCs in patients with VHL is a safe and effective therapy, which can preserve sufficient renal function even after renal surgery.

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