von hippel lindau syndrome
Recently Published Documents


TOTAL DOCUMENTS

282
(FIVE YEARS 67)

H-INDEX

25
(FIVE YEARS 2)

2021 ◽  
Vol 9 (1) ◽  
pp. 27-32
Author(s):  
Danilo Coco ◽  
Silvana Leanza

Von Hippel-Lindau syndrome (VHL) is an autosomal dominant disease caused by a genetic aberration of the tumor suppressor gene VHL and characterized by multi-organ tumors. The most common neoplasm is retinal or cerebral hemangioblastoma, although spinal hemangio-blastomas, Renal Clear Cell Carcinoma (RCCC), pheochromocytomas (Pheo), paragangliomas, Pancreatic Neuroendocrine Tumors (PNETs), cystadenomas of the epididymis, and tumors of the lymphatic sac can also be found. Neurological complications from retinal or CNS hemangio-blastoma and metastases of RCCC are the most common causes of death. There is a strong association between pheochromocytoma and VHL syndrome, and pheochromocytoma is often a classic manifestation of the syndrome. RCCCs are often incidental and identified during other tests. Between 35 and 70% of patients with VHL have pancreatic cysts. These can manifest as simple cysts, serous cystoadenomas, or PNETs with a risk of malignant degeneration or metastasis of no more than 8%. The objective of this retrospective study is to analyze abdominal manifestations of VHL from a surgical point of view.


2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Dali Tong ◽  
Yao Zhang ◽  
Jun Jiang ◽  
Gang Bi

Abstract Background Classical von Hippel Lindau (VHL) disease/syndrome includes CNS hemangioblastoma, renal or pancreatic cysts, pheochromocytoma, renal carcinoma and exodermic cystadenoma. The syndrome is caused by mutation of VHL tumor suppressor gene. The most prevalent mutations are present in VHL syndrome. To date, > 500 mutations of gene related to the progression of VHL syndrome have been reported. VHL gene mutation presented in single lung or pancreatic tumor has been reported occasionally, but there is no report of both. Methods In this paper, we used CT scan, pathological and genetic examination methods to diagnose a rare atypical VHL syndrome. Results We reported a rare case of atypical VHL syndrome with authenticated VHL mutation at p.Arg167Gln, that was associated with not only bilateral pheochromocytoma but also lung carcinoid and neuroendocrine tumor of pancreas. Based on literature reviews, the patient was recommended to be further subjected to octreotide-based radionuclide therapy. Conclusions Combined with gene detection and clinical diagnosis, we found the inherent relationship between VHL genotype and phenotype, and constructed the standard diagnosis and treatment process of disease with rare VHL mutation from the perspective of gene therapy.


2021 ◽  
Vol 27 (1) ◽  
Author(s):  
Selvin Theodore Jayanth ◽  
Partho Mukherjee ◽  
Arun Jacob Philip George ◽  
J. Chandrasingh ◽  
T. J. Nirmal ◽  
...  

Abstract Background The management of Von Hippel–Lindau syndrome (VHLS) is multidisciplinary. The urologist is involved in treating the renal, epididymal tumors and often adrenal pheochromocytoma. Preservation of renal and adrenal function is a challenge. We present 17 cases of VHLS in a tertiary care center in South India. Methods A retrospective review of the patients who underwent surgical treatment under urology for VHLS from January 2009 to November 2018 was conducted. The demographic data, the spectrum of manifestation, treatment, change in glomerular filtration rate, adrenal insufficiency, and recurrence-free survival were analyzed. Results There were 17 patients diagnosed with VHLS. The median age of diagnosis was 39 years (range 23–41). The spectrum of clinical manifestation was: multifocal RCC (88%), pancreatic cysts/tumors (70%), cerebellar hemangioblastoma (59%), retinal angiomas (47%), epididymal cysts/tumors (47%), pheochromocytomas (41%), and spinal hemangiomas (30%). There were seven patients with ten pheochromocytoma lesions. Three underwent cortical sparing and seven total adrenalectomies; 13 patients underwent nephron sparing surgery (NSS), of which seven patients had bilateral tumors. The median duration of follow-up was 6.5 years (range 2–12 years). Following NSS, seven patients had a local recurrence, and one developed pancreatic metastasis. Two patients (11%) were lost to follow-up. Renal function was preserved in all patients at the last follow-up, and there was no postoperative adrenal crisis or mortality. Conclusion Nephron sparing surgery and cortical sparing adrenalectomy are the treatment of choice for multifocal RCC and pheochromocytomas in patients with VHLS providing good oncological outcomes and preservation of renal and adrenal function.


2021 ◽  
Vol 14 (8) ◽  
pp. e244077
Author(s):  
Ahmed Adan ◽  
Luke Carine ◽  
Heinrich Heimann ◽  
Marta Ugarte

A 71-year-old Caucasian man presented with an isolated juxtapapillary retinal capillary haemangioblastoma on the superior and temporal left optic disc with active exudation resulting in macular intraretinal and subretinal fluid, reduced vision, scotoma and distortion with progression over 6 weeks. He did not have von Hippel-Lindau syndrome. After proton beam radiotherapy (PBR), the tumour size remained unchanged, but did not stop the exudation. Three anti-vascular endothelial growth factor (VEGF) (ie, bevacizumab) injections at monthly intervals resulted in reduced macular oedema. Combined therapy with PBR and anti-VEGF injections sustained our patient’s vision at 12 months follow-up.


2021 ◽  
Vol 16 (8) ◽  
Author(s):  
Helen Ng ◽  
Vinson Wai-Shun Chan ◽  
Jon Cartledge ◽  
Michael Kimuli ◽  
Christy Ralph ◽  
...  

2021 ◽  
pp. 112067212110356
Author(s):  
Swati Tyagi ◽  
Kritika Chopra Kumar ◽  
Komal Saluja

Background: Von Hippel-Lindau syndrome is a rare autosomal dominantly inherited multisystemic oncologic syndrome, presenting predominantly with angiomatosis in embryologically similar neurologic tissue such as retina, cerebellum and adrenals. Retinal hemangioblastomas are the hallmark ophthalmic finding. In this case report, we describe the importance of timely diagnosis, thorough systemic examination and treatment of bilaterally asymmetrical retinal hemangioblastomas in a young adult male. Case presentation: A 31-year-old male presented with painless diminution of vision in both eyes, associated with eyestrain and headache. Multiple asymmetric retinal lesions and dilated feeder vessels were noted on ophthalmoscopic examination and confirmed by fluorescein angiography to be retinal hemangioblastomas. Comprehensive systemic examination revealed cerebellar hemangioblastomas and multiple pancreatic and renal cysts. Treatment of retinal lesions was done by combination therapy of argon laser photocoagulation and cryopexy, which lead to a good visual outcome. Subsequently, neurosurgical resection of cerebellar hemangioblastoma proved to be lifesaving for the patient. Conclusion: RHBs are the earliest, easiest and the most frequently detected manifestation of VHL. Identification of ocular manifestations play a pivotal role in early diagnosis and timely intervention in VHL syndrome, thereby significantly reducing associated morbidity and mortality. Therefore, an ophthalmologist’s role is crucial in the management of these potentially deadly tumours.


2021 ◽  
Vol 79 ◽  
pp. S295
Author(s):  
R. Giles ◽  
K. Dreijerink ◽  
R.S. Van Leeuwaarde ◽  
A.N. Van Der Horst-Schrivers ◽  
T.P. Links

Sign in / Sign up

Export Citation Format

Share Document