scholarly journals Von Hippel-Lindau Disease (VHL): A Rare Radiological Case Report

2020 ◽  
Vol 8 (1) ◽  
pp. 36-39
Author(s):  
Smrutismita Hota ◽  
Abdul Faisal
Keyword(s):  
Lower Limbs ◽  
Pancreatic Cysts ◽  
Renal Lesion ◽  
Lumbar Region ◽  
Von Hippel Lindau ◽  
Chief Complaints ◽  
Von Hippel Lindau Disease ◽  
Spinal Hemangioblastoma ◽  
Vhl Disease

Von Hippel-Lindau disease (VHL) is a rare autosomal dominant syndrome caused by mutation in the VHL tumor suppression gene located on chromosome 3. The presented case was a 13 years male patient who initially presented to our hospital with chief complaints of Weakness in  b/l lower limbs, Low backache, Right-sided flank pain. On Physical examination there was a lump in right lumbar region– which was firm on palpation. On imaging and histopathology examination the patient was found to have multiple simple pancreatic cysts, malignant renal lesion, retialangioma and spinal hemangioblastoma. So a diagnosis of VHL was made. Regular follow-up with imaging (ultrasound, CT, MRI) are necessary to follow the previous lesions and detect any newly-developed VHL-associate tumors. The Importance of screening is emphasized because the lesions in VHL disease are treatable.

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 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.

scholarly journals Pituitary stalk hemangioblastomas in von Hippel–Lindau disease

2009 ◽  
Vol 110 (2) ◽  
pp. 350-353 ◽  
Author(s):  
Russell R. Lonser ◽  
John A. Butman ◽  
Ruwan Kiringoda ◽  
Debbie Song ◽  
Edward H. Oldfield
Keyword(s):  
Case Reports ◽  
Pituitary Stalk ◽  
Anatomical Location ◽  
Clinical Effects ◽  
Laboratory Findings ◽  
Natural History Study ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease ◽  
Vhl Disease

Object Pituitary stalk hemangioblastomas are rare, and information on them is limited to a small number of case reports. To gain insight into the incidence, clinical effects, and management of pituitary stalk hemangioblastomas, the authors analyzed a series of patients with von Hippel–Lindau (VHL) disease. Methods Patients with VHL disease who were enrolled in a prospective National Institutes of Health natural history study were included. Clinical, imaging, and laboratory findings were analyzed. Results Two hundred fifty patients were included in the study (120 male and 130 female patients). In 8 patients (3%), 8 pituitary stalk hemangioblastomas were identified on MR imaging. This anatomical location was the most common supratentorial site for these lesions; 29% of all supratentorial hemangioblastomas were found there. The mean (± standard deviation) pituitary stalk hemangioblastoma volume was 0.5 ± 0.9 cm3 (range 0.08–2.8 cm3). Results of endocrine laboratory profiles were normal in all patients. All patients remained asymptomatic and none required treatment during the follow-up period (mean duration 41.4 ± 14.4 months). Conclusions The pituitary stalk is the most common site for the development of supratentorial hemangioblastomas in patients with VHL disease. Pituitary stalk hemangioblastomas often remain asymptomatic and do not require treatment. These findings indicate that pituitary stalk hemangioblastomas in patients with VHL disease may be managed with observation and that surgery for them can be reserved until associated signs or symptoms occur.

scholarly journals Oral Propranolol in Von Hippel Lindau Ocular Affection

2020 ◽  
Author(s):  
BEATRIZ GONZÁLEZ-RODRÍGUEZ ◽  
MARIA GONZÁLEZ-RODRÍGUEZ ◽  
NATALIA BEJARANO RAMÍREZ ◽  
ROSA MARÍA JIMÉNEZ ESCRIBANO ◽  
FRANCISCO JAVIER REDONDO CALVO
Keyword(s):  
Visual Acuity ◽  
Anterior Segment ◽  
First Year ◽  
Malignant Tumours ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease ◽  
Promising Treatment ◽  
Vhl Disease ◽  
Oral Propranolol

Abstract Background. von Hippel Lindau (VHL) disease is a familial syndrome associated with benign and malignant tumours. These tumours appear in the retina, among other locations. The 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 of seven patients with VHL disease and ocular affection that had rejected conventional treatment, taking oral propranolol. 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 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. Results. Visual acuity and tumour 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 VHL affection. It could delay or stabilise 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. Trial registration. VHL-HOPE-2014-1. EudraCT Number: 2014-003671-30; Registered 22 September 2014 - https://www.clinicaltrialsregister.eu/ctr-search/trial/2014-003671-30/ES

Metastases to hemangioblastomas in von Hippel–Lindau disease

2006 ◽  
Vol 105 (2) ◽  
pp. 256-263 ◽  
Author(s):  
S. Taylor Jarrell ◽  
Alexander O. Vortmeyer ◽  
W. Marston Linehan ◽  
Edward H. Oldfield ◽  
Russell R. Lonser
Keyword(s):  
Pancreatic Neuroendocrine Tumor ◽  
Von Hippel Lindau ◽  
Increased Risk ◽  
Age At Surgery ◽  
Von Hippel Lindau Disease ◽  
The Central Nervous System ◽  
Histological Characteristics ◽  
Tumor Metastases ◽  
Vhl Disease

Object Patients with hereditary cancer syndromes may be at increased risk for the development of tumor-to-tumor metastases. To gain insight into the biological nature of these lesions in the central nervous system (CNS), to determine their prevalence in a familial neoplasia syndrome, and to better define their management, the authors retrospectively examined a series of cases in which metastatic lesions developed within hemangioblastomas in patients with von Hippel–Lindau (VHL) disease. Methods The study included all cases of VHL disease in which patients underwent resection of a CNS hemangioblastoma that contained a metastasis or were found at autopsy to have a metastasis to a hemangioblastoma between January 2002 and December 2005 at the National Institute of Neurological Disorders and Stroke (NINDS). Clinical, histopathological, imaging, and surgical and/or autopsy findings were analyzed. Metastasis to a CNS hemangioblastoma was found in six resected tumors (8% of all hemangioblastomas resected from patients with VHL disease at the NINDS during the study period) from six patients (five women, one man; mean age at surgery 42.5 years). The primary site of metastatic disease was the kidney in five patients (renal cell carcinoma) and the pancreas in one (a pancreatic neuroendocrine tumor). Only one patient had systemic metastases at the time of resection of the hemangioblastoma containing the metastasis. Neurologically, all patients had remained at baseline or were improved at last clinical follow-up examination (mean follow-up duration 16.5 months, range 3–40 months). In all cases, postoperative imaging revealed that the hemangioblastoma resection was complete, and there was no evidence of recurrence in any of the patients at the last follow up. Two patients (including one who was also in the surgical group) were found at autopsy to have CNS metastases exclusively to spinal hemangioblastomas. Conclusions Hemangioblastomas are an early and preferred site for metastasis in VHL disease. Emerging histopathological techniques may lead to recognition of an increasing number of cases of tumor-to-hemangioblastoma metastasis. Management of cases involving tumor-to-hemangioblastoma metastases in VHL disease should be based on the histological characteristics of the primary tumor, extent of the primary disease, and completeness of the resection.

Effect of pregnancy on hemangioblastoma development and progression in von Hippel-Lindau disease

2012 ◽  
Vol 117 (5) ◽  
pp. 818-824 ◽  
Author(s):  
Donald Y. Ye ◽  
Kamran D. Bakhtian ◽  
Ashok R. Asthagiri ◽  
Russell R. Lonser
Keyword(s):  
Growth Rates ◽  
Reproductive Age ◽  
Imaging Findings ◽  
Von Hippel Lindau ◽  
Pregnancy Cohort ◽  
Significant Difference ◽  
Von Hippel Lindau Disease ◽  
The Mean ◽  
Vhl Disease

Object Prior cases suggest that pregnancy increases the development and progression of CNS hemangioblastomas and/or peritumoral cysts. To determine the effect of pregnancy on CNS hemangioblastomas and peritumoral cysts, the authors prospectively evaluated serial clinical and imaging findings in patients with von Hippel-Lindau (VHL) disease who became pregnant and compared findings during pregnancy to findings in the same patients when they were not pregnant as well as to findings from a cohort of VHL patients who did not become pregnant. Methods Female VHL disease patients enrolled in a prospective natural history study who were of reproductive age (16–35 years at study entrance) were included. Analysis of serial clinical and imaging findings was performed. Results Thirty-six consecutive female VHL disease patients harboring 177 hemangioblastomas were included (mean follow-up [± SD] 7.5 ± 2.3 years). Nine patients (25%) became pregnant (pregnancy cohort). The mean rates of development of new hemangioblastomas and peritumoral cysts in these women during pregnancy (0.4 ± 0.4 tumors/year; 0.1 ± 0.2 cysts/year) did not differ significantly (p > 0.05) from the mean rates in the same group during nonpregnant periods (0.3 ± 0.4 tumors/year; 0.1 ± −0.1 cysts/year) or from the rate in the 27 patients who did not become pregnant (the no-pregnancy cohort: 0.3 ± 0.5 tumors/year; 0.1 ± 0.2 cysts/year). Hemangioblastoma growth rates were similar (p > 0.05) during pregnancy (mean 29.8% ± 42.7% increase in volume per year) compared with during nonpregnant periods (41.4% ± 51.4%) in the pregnancy cohort and the no-pregnancy cohort (34.3% ± 55.3%). Peritumoral cyst growth rates during pregnancy (571.0% ± 887.4%) were similar (p > 0.05) to those of the no-pregnancy cohort (483.9% ± 493.9%), but the rates were significantly higher for women in the pregnancy cohort during nonpregnant periods (2373.6% ± 3392.9%; p < 0.05 for comparison with no-pregnancy cohort). There was no significant difference (p > 0.05) in the need for resection or the mean age at resection between the pregnancy (28% of hemangioblastomas in cohort; mean patient age at resection 30.2 ± 2.6 years) and no-pregnancy cohorts (19%; 32.3 ± 5.6 years). Conclusions Pregnancy is not associated with increased hemangioblastoma or peritumoral cyst development or progression in patients with VHL disease.

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 Biological and clinical impact of hemangioblastoma-associated peritumoral cysts in von Hippel-Lindau disease

2016 ◽  
Vol 124 (4) ◽  
pp. 971-976 ◽  
Author(s):  
Kristin Huntoon ◽  
Tianxia Wu ◽  
J. Bradley Elder ◽  
John A. Butman ◽  
Emily Y. Chew ◽  
...  
Keyword(s):  
Clinical Impact ◽  
Anatomical Location ◽  
Von Hippel Lindau ◽  
Study Enrollment ◽  
Common Location ◽  
Younger Age ◽  
The Mean ◽  
A Prospective Study ◽  
Vhl Disease

OBJECT Peritumoral cysts are frequently associated with CNS hemangioblastomas and often underlie neurological morbidity and mortality. To determine their natural history and clinical impact, the authors prospectively analyzed hemangioblastoma-associated peritumoral cysts in patients with von Hippel-Lindau (VHL) disease. METHODS Patients with VHL disease who had 2 or more years of follow-up and who were enrolled in a prospective study at the National Institutes of Health were included. Serial prospectively acquired laboratory, genetic, imaging, and clinical data were analyzed. RESULTS One hundred thirty-two patients (of 225 in the VHL study with at least 2 years of follow-up) had peritumoral cysts that were followed for more than 2 years (total of 292 CNS peritumoral cysts). The mean age at study entrance was 37.4 ± 13.1 years ([mean ± SD], median 37.9, range 12.3–65.1 years). The mean follow-up was 7.0 ± 1.7 years (median 7.3, range 2.1–9.0 years). Over the study period, 121 of the 292 peritumoral cysts (41.4%) became symptomatic. Development of new cysts was associated with a larger number cysts at study enrollment (p = 0.002) and younger age (p < 0.0001). Cyst growth rate was associated with anatomical location (cerebellum cysts grew faster than spine and brainstem cysts; p = 0.0002 and p = 0.0008), younger age (< 35 years of age; p = 0.0006), and development of new neurological symptoms (p < 0.0001). Cyst size at symptom production depended on anatomical location (p < 0.0001; largest to smallest were found, successively, in the cerebellum, spinal cord, and brainstem). The most common location for peritumoral cysts was the cerebellum (184 cysts [63%]; p < 0.0001). CONCLUSIONS Peritumoral cysts frequently underlie symptom formation that requires surgical intervention in patients with VHL disease. Development of new cysts was associated with a larger number of cysts at study enrollment and younger age. Total peritumoral cyst burden was associated with germline partial deletion of the VHL gene.

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