Von Hippel-Lindau Disease: A Genetic and Clinical Review

Haddad, Nagib; Cavallerano, Jerry D.; Silva, Paolo S.

doi:10.3109/08820538.2013.825281

Cited by 48 publications

(37 citation statements)

References 72 publications

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“…However, most data pertain to angiogenic tumors (43,45,46). So far, no epidemiological data describe the relationship between VHL diseases and viral infection.…”

Section: Discussionmentioning

confidence: 99%

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pVHL Negatively Regulates Antiviral Signaling by Targeting MAVS for Proteasomal Degradation

Zhang

et al. 2015

The Journal of Immunology

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The von Hippel–Lindau (VHL) gene is a well-defined tumor suppressor linked to human heredity cancer syndromes. As a component of the VHL-elongin B/C E3 ligase complex, pVHL performs its tumor function by targeting proteins for proteasomal degradation. It is largely unknown whether pVHL functions in antiviral immunity. In this article, we identify that pVHL negatively regulates innate antiviral immunity, which acts mainly by inducing degradation of mitochondrial antiviral-signaling protein (MAVS, also known as Cardif, IPS-1, or VISA). Overexpression of pVHL abrogated the cellular response to viral infection, whereas knockdown of pVHL exerted the opposite effect. pVHL targeted the K420 residue of MAVS to catalyze the formation of K48-linked polyubiquitin chains, leading to proteasomal degradation of MAVS. After viral infection, Mavs levels remained low in wild type zebrafish embryos but became much higher in vhl-deficient (vhl−/−) zebrafish embryos. Higher MAVS levels correlated with a greatly exaggerated antiviral response. In this work, we demonstrate that pVHL exhibits a previously unknown role in innate antiviral immunity.

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“…However, most data pertain to angiogenic tumors (43,45,46). So far, no epidemiological data describe the relationship between VHL diseases and viral infection.…”

Section: Discussionmentioning

confidence: 99%

“…As a well-known disorder, VHL disease has attracted much attention from clinicians and biologists (43)(44)(45)(46), culminating in the collection of much clinical and epidemiological data. However, most data pertain to angiogenic tumors (43,45,46).…”

Section: Discussionmentioning

confidence: 99%

pVHL Negatively Regulates Antiviral Signaling by Targeting MAVS for Proteasomal Degradation

Zhang

et al. 2015

The Journal of Immunology

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“…Patients with a complete deletion of the VHL gene have been found to have increased visual acuity and decreased incidence of retinal hemangioblastoma when compared with patients with a missense mutation. [10]…”

Section: Discussionmentioning

confidence: 99%

Hemangioblastoma of the optic nerve producing bilateral optic tract edema in a patient with von Hippel-Lindau disease

et al. 2014

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Background:The authors present a novel case of a hemangioblastoma of the optic nerve producing bilateral optic tract edema in a patient with von Hippel–Lindau disease (VHL). This is the only case in the literature documenting optic tract edema secondary to a hemangioblastoma of the optic nerve.Case Description:The patient was a 34-year-old female in whom this lesion was causing retro-orbital pain and proptosis. She had previously lost vision in the symptomatic eye secondary to a retinal hemangioblastoma. The optic nerve lesion was excised by sectioning the optic nerve both proximally and distally to the lesion. There were no complications and patient's symptoms resolved postoperatively. A follow-up magnetic resonance imaging (MRI) scan revealed complete excision of the mass and resolution of the optic tract edema.Conclusion:Optic nerve hemangioblastomas in patients with VHL are rare, but are manageable with meticulous microneurosurgery and with appropriate patient expectations. This is the first known case of an optic nerve hemangioblastoma producing bilateral optic tract edema, which resolved after resection of the prechiasmal tumor. Hemangioblastoma should remain in the differential diagnosis of optic nerve tumors, especially in the setting of VHL.

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“…Patients with von Hippel-Lindau syndrome are predisposed to develop SCAs, as well as a variety of other clear cell neoplasms. The syndrome is caused by a germline (autosomal dominant) mutation of VHL with inactivating alteration or loss of the other functioning allele, further highlighting the critical role of this gene in SCA formation [108]. VHL alterations (intragenic mutations or LOH at 3p) can be used to help identify a cystic tumor as an SCA, and since virtually all SCAs are benign, these patients, if asymptomatic, can be safely followed up and unnecessary surgery can be avoided.…”

Section: Serous Cystadenomasmentioning

confidence: 99%

The genetic classification of pancreatic neoplasia

2015

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Cancer is caused by the accumulation of inherited and/or acquired alterations in specific genes. The recent decline in the cost of DNA sequencing has allowed tumor sequencing to be conducted on a large scale, which, in turn, has led to an unprecedented understanding of the genetic events that drive neoplasia. This understanding, when integrated with meticulous histologic analyses and with clinical findings, has direct clinical implications. The recent sequencing of all of the major types of cystic and noncystic neoplasms of the pancreas has revealed opportunities for molecular diagnoses and for personalized treatment. This review summarizes the results from these recent studies focusing on the clinical relevance of genomic data.

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Von Hippel-Lindau Disease: A Genetic and Clinical Review

Cited by 48 publications

References 72 publications

pVHL Negatively Regulates Antiviral Signaling by Targeting MAVS for Proteasomal Degradation

pVHL Negatively Regulates Antiviral Signaling by Targeting MAVS for Proteasomal Degradation

Hemangioblastoma of the optic nerve producing bilateral optic tract edema in a patient with von Hippel-Lindau disease

The genetic classification of pancreatic neoplasia

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