4,124 results match your criteria Von Hippel-Lindau Syndrome


High glucose-induced ubiquitination of G6PD leads to the injury of podocytes.

FASEB J 2019 Feb 20:fj201801921R. Epub 2019 Feb 20.

Division of Endocrinology and Metabolism, Huashan Hospital, Fudan University, Shanghai, China.

Oxidative stress contributes substantially to podocyte injury, which plays an important role in the development of diabetic kidney disease. The mechanism of hyperglycemia-induced oxidative stress in podocytes is not fully understood. Glucose-6-phosphate dehydrogenase (G6PD) is critical in maintaining NADPH, which is an important cofactor for the antioxidant system. Read More

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http://dx.doi.org/10.1096/fj.201801921RDOI Listing
February 2019

Cauda Equina Syndrome as the first Manifestation of von Hippel-Lindau Disease: A Case Report.

World Neurosurg 2019 Feb 16. Epub 2019 Feb 16.

Department of Orthopedics, Zhejiang Provincial People's Hospital, Hangzhou, Zhejiang, China; Hangzhou Medical College People's Hospital, Hangzhou, Zhejiang, China. Electronic address:

Background: Von-Hippel Lindau (VHL) disease is rare neurocutaneous disorder arising from an inactivating mutation of the VHL gene on chromosome 3p35. The disease is inherited in an autosomal dominant fashion and predominantly involves tissues originating from the ectodermal germ layer. Although hemangioblastomas of retina and cerebellum are the most common clinical features, multiple-organ involvement in the form of renal cell carcinomas, spinal hemangioblastomas, renal cysts, pancreatic cysts have also been reported. Read More

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http://dx.doi.org/10.1016/j.wneu.2019.01.269DOI Listing
February 2019

The utility of Gallium-DOTATATE PET/CT in the detection of von Hippel-Lindau disease associated tumors.

Eur J Radiol 2019 Mar 22;112:130-135. Epub 2018 Nov 22.

Endocrine Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, United States; Department of Surgery, The George Washington University, School of Medicine and Health Sciences, Washington, District of Columbia, United States.

Purpose: Patients with von Hippel-Lindau (VHL) disease may develop various tumors, including neuroendocrine tumors of the pancreas (PNETs) and adrenal, central nervous system and retinal hemangioblastomas, kidney tumors and more. Ga-DOTATATE positron emission tomography (PET)/computerized tomography (CT) has been shown to be highly accurate for tumors with cells expressing somatostatin receptors. We aimed to assess the performance of Ga-DOTATATE PET/CT in patients with VHL disease. Read More

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http://dx.doi.org/10.1016/j.ejrad.2018.11.023DOI Listing

Natural history of renal tumours in von Hippel-Lindau disease: a large retrospective study of Chinese patients.

J Med Genet 2019 Feb 11. Epub 2019 Feb 11.

Department of Urology, Peking University First Hospital, Institute of Urology, Peking University, National Urological Cancer Center, Beijing, China.

Background: Historically, renal cell carcinoma (RCC) is one of the main causes of death in von Hippel-Lindau (VHL) disease. However, the natural history of VHL-related RCC has not been thoroughly elucidated to date. This report described the natural history of VHL-related RCC in a large Chinese VHL cohort and might be helpful in the surveillance and treatment of VHL disease. Read More

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http://dx.doi.org/10.1136/jmedgenet-2018-105567DOI Listing
February 2019
1 Read

Resection of a cerebellar hemangioblastoma via a minimally invasive tubular approach.

J Clin Neurosci 2019 Feb 4. Epub 2019 Feb 4.

Department of Neurosurgery, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany. Electronic address:

Hemangioblastomas are rare benign, highly vascularized tumors occurring in the cerebellum and the spinal cord. They often develop tumor-associated cysts multiple times the size of the solid part of the tumor. Patients with von Hippel-Lindau (VHL) disease typically exhibit multiple tumors with the need of repeated surgeries during their lifetime. Read More

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http://dx.doi.org/10.1016/j.jocn.2019.01.045DOI Listing
February 2019

Optimization of next-generation sequencing technologies for von Hippel Lindau (VHL) mosaic mutation detection and development of confirmation methods.

J Mol Diagn 2019 Feb 4. Epub 2019 Feb 4.

UMR-S 1172 - JPARC - Jean-Pierre Aubert Research Center; Inserm, UMR-S 1172, Team "Mucins, Epithelial Differentiation and Carcinogenesis", Lille; Departments of Biochemistry and Molecular Biology. Electronic address:

Von Hippel Lindau disease (VHL) is a monogenic disorder characterized by the development of tumors affecting the central nervous system, kidney, pancreas, or adrenal glands, and due to germline mutations in the VHL tumor suppressor gene. About 5% of patients harboring a typical VHL phenotype have no mutation detected by conventional techniques, so a postzygotic VHL mosaicism can be suspected. The aim of this study was therefore to implement a next-generation sequencing (NGS) strategy for VHL mosaic mutation detection, including an optimization of the original Personal Genome Machine design by enrichment with oligonucleotides corresponding to amplicons with insufficient depth of coverage. Read More

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http://dx.doi.org/10.1016/j.jmoldx.2019.01.005DOI Listing
February 2019

A Nonsense Mitochondrial DNA Mutation Associates with Dysfunction of HIF1 in a Von Hippel-Lindau Renal Oncocytoma.

Oxid Med Cell Longev 2019 9;2019:8069583. Epub 2019 Jan 9.

Department of Medical and Surgical Sciences (DIMEC), Unit of Medical Genetics, University of Bologna Medical School, Bologna 40138, Italy.

The Von Hippel-Lindau (VHL) syndrome has been rarely associated with renal oncocytomas, and tumors usually show HIF1 chronic stabilization. By contrast, oncocytomas mainly associated with respiratory chain (RC) defects due to severe mitochondrial DNA (mtDNA) mutations are incapable of stabilizing HIF1, since oxygen consumption by the RC is dramatically diminished and prolylhydroxylase activity is increased by -ketoglutarate accumulation following Krebs cycle slowdown. Here, we investigate the cooccurrence of a pseudohypoxic condition with oncocytic transformation in a case of VHL-associated renal oncocytoma. Read More

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http://dx.doi.org/10.1155/2019/8069583DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6343171PMC
January 2019
3 Reads

[Microcystic serous cystadenoma: An uncommon neoplasm of pancreas. Report of two cases].

Ann Pathol 2019 Jan 30. Epub 2019 Jan 30.

Service d'anatomie et cytologie pathologiques, hôpital de la Source, BP 86709, 45067 Orléans cedex 2, France.

Microcystic variant of serous cystadenoma of the pancreas is a rare neoplasm; essentially located in the body or tail of the pancreas and associated with the von Hippel-Lindau. Often, patients are asymptomatic and the neoplasm is incidentally discovered. Usually radiographic manifestations are characteristic. Read More

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http://dx.doi.org/10.1016/j.annpat.2018.12.007DOI Listing
January 2019

Radiopathological correlation of a von Hippel-Lindau syndrome associated pancreatic neuroendocrine tumour with clear cell features.

BMJ Case Rep 2019 Feb 1;12(2). Epub 2019 Feb 1.

Department of Radiology, Mayo Clinic Arizona, Scottsdale, Arizona, USA.

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http://dx.doi.org/10.1136/bcr-2018-227891DOI Listing
February 2019

Steroid Cell Ovarian Tumor in a Case of von Hippel-Lindau Disease: Demonstrating Lipid Content of the Mass with MR Imaging.

Magn Reson Med Sci 2019 Jan 31. Epub 2019 Jan 31.

Department of Endocrine Neoplasia, The University of Texas MD Anderson Cancer Center.

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http://dx.doi.org/10.2463/mrms.ci.2018-0104DOI Listing
January 2019

Dysphagia: an unusual presentation of Von Hippel-Lindau disease.

Postgrad Med J 2019 Jan 30. Epub 2019 Jan 30.

Department of Endocrinology, Post Graduate Institute for Medical Education and Research, Chandigarh, India

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http://dx.doi.org/10.1136/postgradmedj-2018-136033DOI Listing
January 2019
1 Read

Targeting angiogenesis in metastatic renal cell carcinoma.

Expert Rev Anticancer Ther 2019 Mar 6;19(3):245-257. Epub 2019 Feb 6.

a Division of Translational Oncology , I.R.C.C.S. Istituti Clinici Scientifici Maugeri , Pavia , Italy.

Introduction: Renal cell carcinoma (RCC), and particularly its clear cell histological subtype, is commonly characterized by genetic alterations in the Von Hippel Lindau (VHL) tumor suppressor gene, leading to a typically exasperated angiogenesis. However, other biological and genetic peculiarities contribute to differentiate this malignancy from other solid tumors, including its immunogenicity. Areas covered: This review focuses on the present and future role of antiangiogenic drugs, administered either alone (as it has been in the past few years), or in combination with other agents (e. Read More

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https://www.tandfonline.com/doi/full/10.1080/14737140.2019.1
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http://dx.doi.org/10.1080/14737140.2019.1574574DOI Listing
March 2019
9 Reads

Disseminated central nervous system hemangioblastoma in a patient with no clinical or genetic evidence of von Hippel-Lindau disease-a case report and literature review.

Acta Neurochir (Wien) 2019 Feb 17;161(2):343-349. Epub 2019 Jan 17.

Department of Oncology, Oslo University Hospital, Oslo, Norway.

Background: Hemangioblastomas (HB) are benign tumors of the central nervous system (CNS) that can appear sporadic or as part of von Hippel-Lindau (VHL) disease. It is often curable with surgical resection, but upon relapse, the disease exhibits a treatment-refractory course.

Case Report: A patient treated for sporadic cerebellar HB relapsed 12 years post-surgery. Read More

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http://dx.doi.org/10.1007/s00701-019-03800-zDOI Listing
February 2019
3 Reads

Rectovaginal fistula during treatment with axitinib in a patient with renal cell carcinoma: a case report and review of the literature.

Anticancer Drugs 2019 Jan 11. Epub 2019 Jan 11.

Department of Medical Oncology, ASST-Settelaghi, Circolo Hospital, Varese, Italy.

Renal cell carcinoma (RCC) is one of the most frequent malignancies of the adults. Its incidence has been increasing steadily by 2-4% each year. Up to 30% of patients present with metastases at diagnosis. Read More

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http://dx.doi.org/10.1097/CAD.0000000000000742DOI Listing
January 2019
2 Reads

Duodenal somatostatinoma presenting as obstructive jaundice with the coexistence of a gastrointestinal stromal tumour in neurofibromatosis type 1: a case with review of the literature.

BMJ Case Rep 2019 Jan 10;12(1). Epub 2019 Jan 10.

Division of Endocrinology, Department of Internal Medicine, Texas Tech University Health Science Center School of Medicine, Lubbock, Texas, USA.

Somatostatinomas are rare neuroendocrine tumours, mostly located in the pancreas or duodenum, with an estimated incidence of 1 in 40 million. Duodenal somatostatinomas (DSs) are usually found in association with neurofibromatosis type 1 (NF1), tuberous sclerosis and Von Hippel-Lindau syndrome. Gastrointestinal stromal tumours (GIST) have also been described in NF1, but the association with somatostatinoma is very uncommon. Read More

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http://dx.doi.org/10.1136/bcr-2018-226702DOI Listing
January 2019
3 Reads

Pharmacologic Targeting of Hypoxia-Inducible Factors.

Authors:
Gregg L Semenza

Annu Rev Pharmacol Toxicol 2019 Jan;59:379-403

Institute for Cell Engineering, McKusick-Nathans Institute of Genetic Medicine, and Departments of Pediatrics, Medicine, Oncology, Radiation Oncology, and Biological Chemistry, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA; email:

Hypoxia-inducible factors (HIFs) control transcriptional responses to reduced O availability. HIFs are heterodimeric proteins composed of an O-regulated HIF-α subunit and a constitutively expressed HIF-1β subunit. HIF-α subunits are subject to prolyl hydroxylation, which targets the proteins for degradation under normoxic conditions. Read More

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https://www.annualreviews.org/doi/10.1146/annurev-pharmtox-0
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http://dx.doi.org/10.1146/annurev-pharmtox-010818-021637DOI Listing
January 2019
7 Reads

Hypoxia, angiogenesis, and metabolism in the hereditary kidney cancers.

J Clin Invest 2019 Feb 7;129(2):442-451. Epub 2019 Jan 7.

Vanderbilt-Ingram Cancer Center, Departments of Medicine and Biochemistry, Division of Hematology and Oncology, Vanderbilt University Medical Center, Nashville, Tennessee, USA.

The field of hereditary kidney cancer has begun to mature following the identification of several germline syndromes that define genetic and molecular features of this cancer. Molecular defects within these hereditary syndromes demonstrate consistent deficits in angiogenesis and metabolic signaling, largely driven by altered hypoxia signaling. The classical mutation, loss of function of the von Hippel-Lindau (VHL) tumor suppressor, provides a human pathogenesis model for critical aspects of pseudohypoxia. Read More

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http://dx.doi.org/10.1172/JCI120855DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6355237PMC
February 2019
1 Read

Clinical Syndromes and Genetic Screening Strategies of Pheochromocytoma and Paraganglioma.

J Kidney Cancer VHL 2018 27;5(4):14-22. Epub 2018 Dec 27.

Department of Urology, Xiangya Hospital, Central South University, Changsha, China.

Pheochromocytomas (PCCs) are rare neuroendocrine tumors that originate from chromaffin cells of the adrenal medulla, and paragangliomas (PGLs) are extra-adrenal pheochromocytomas. These can be mainly found in clinical syndromes including multiple endocrine neoplasia (MEN), von Hippel-Lindau (VHL) syndrome, neurofibromatosis-1 (NF-1) and familial paraganglioma (FPGL). PCCs and PGLs are thought to have the highest degree of heritability among human tumors, and it has been estimated that 60% of the patients have genetic abnormalities. Read More

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http://dx.doi.org/10.15586/jkcvhl.2018.113DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6308242PMC
December 2018
1 Read

Disturbed Flow Increases UBE2C (Ubiquitin E2 Ligase C) via Loss of miR-483-3p, Inducing Aortic Valve Calcification by the HIF-1α (Hypoxia-Inducible Factor-1α) Pathway in Endothelial Cells.

Arterioscler Thromb Vasc Biol 2019 Jan 3:ATVBAHA118312233. Epub 2019 Jan 3.

From the Wallace H. Coulter Department of Biomedical Engineering, Georgia Institute of Technology and Emory University, Atlanta (J.F.E., N.V.-R., S.K., L.G., W.R.T., A.P.Y., H.J.).

Objective- Calcific aortic valve (AV) disease, characterized by AV sclerosis and calcification, is a major cause of death in the aging population; however, there are no effective medical therapies other than valve replacement. AV calcification preferentially occurs on the fibrosa side, exposed to disturbed flow (d-flow), whereas the ventricularis side exposed to predominantly stable flow remains protected by unclear mechanisms. Here, we tested the role of novel flow-sensitive UBE2C (ubiquitin E2 ligase C) and microRNA-483-3p (miR-483) in flow-dependent AV endothelial function and AV calcification. Read More

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http://dx.doi.org/10.1161/ATVBAHA.118.312233DOI Listing
January 2019
6.000 Impact Factor

Von Hippel-Lindau Disease.

Adv Exp Med Biol 2018 ;1085:201-203

Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA.

Phakomatoses (phakoma = birthmark) are a group of diseases or syndromes that have hamartomas (tumorous malformations composed of tissues normally present at the location where they develop) of the skin, brain, and eye (oculoneurocutaneous syndromes). Read More

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http://link.springer.com/10.1007/978-3-319-95046-4_42
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http://dx.doi.org/10.1007/978-3-319-95046-4_42DOI Listing
January 2018
5 Reads

Optic Nerve Haemangioblastoma: Signs of Chronicity.

Ocul Oncol Pathol 2018 Nov 23;4(6):370-374. Epub 2018 Feb 23.

Sheffield Ocular Oncology Service, Royal Hallamshire Hospital, Sheffield, United Kingdom.

Optic nerve haemangioblastomas remain exceedingly rare extrinsic tumours of the optic nerve, often associated with von Hippel-Lindau disease. The authors report a 25-year-old female with a slowly progressive unilateral optic nerve lesion, causing reduced vision and bilateral optic tract oedema. A diagnosis of optic nerve haemangioblastoma with piloid gliosis was made histologically after surgical resection. Read More

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http://dx.doi.org/10.1159/000486863DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6288663PMC
November 2018

Sporadic Hemangioblastoma of the Cavernous Sinus and Meckel's Cave.

J Neurol Surg Rep 2018 Oct 12;79(4):e98-e102. Epub 2018 Dec 12.

Department of Radiology, University of Alabama at Birmingham, Birmingham, Alabama, United States.

 To describe an extremely rare case of sporadic hemangioblastoma (HB) within the cavernous sinus and Meckel's cave with extension to the cerebellopontine angle (CPA) cistern.  A 73-year-old male presented with hearing loss, unilateral ptosis, and facial numbness.  The imaging showed a complex cystic-solid mass centered at the left cavernous sinus and Meckel's cave with extension to the CPA cistern. Read More

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http://dx.doi.org/10.1055/s-0038-1676455DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6291399PMC
October 2018

Exosomal microRNA-21 derived from bronchial epithelial cells is involved in aberrant epithelium-fibroblast cross-talk in COPD induced by cigarette smoking.

Theranostics 2018 29;8(19):5419-5433. Epub 2018 Oct 29.

Institute of Toxicology, School of Public Health, Nanjing Medical University, Nanjing 211166, Jiangsu, People's Republic of China.

Aberrant bronchial epithelium-fibroblast communication is essential for the airway remodeling that contributes to chronic obstructive pulmonary disease (COPD). Exosomes have emerged as novel mediators of intercellular communication, but their role in cigarette smoke (CS)-induced COPD is unknown. Here, we investigated the role of exosomal miR-21 in the dysfunctional epithelium-fibroblast cross-talk caused by CS. Read More

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http://dx.doi.org/10.7150/thno.27876DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6276085PMC
October 2018
1 Read

Differentiation of clear cell and non-clear cell renal cell carcinomas by all-relevant radiomics features from multiphase CT: a VHL mutation perspective.

Eur Radiol 2018 Dec 6. Epub 2018 Dec 6.

Institute of Biomedical and Health Engineering, Shenzhen Institutes of Advanced Technology, Chinese Academy of Sciences, Shenzhen, China.

Objectives: To develop a radiomics model with all-relevant imaging features from multiphasic computed tomography (CT) for differentiating clear cell renal cell carcinoma (ccRCC) from non-ccRCC and to investigate the possible radiogenomics link between the imaging features and a key ccRCC driver gene-the von Hippel-Lindau (VHL) gene mutation.

Methods: In this retrospective two-center study, two radiomics models were built using random forest from a training cohort (170 patients), where one model was built with all-relevant features and the other with minimum redundancy maximum relevance (mRMR) features. A model combining all-relevant features and clinical factors (sex, age) was also built. Read More

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http://dx.doi.org/10.1007/s00330-018-5872-6DOI Listing
December 2018

Differential Expression of PD-L1 Between Sporadic and VHL-Associated Hereditary Clear-Cell Renal Cell Carcinoma and Its Correlation With Clinicopathological Features.

Clin Genitourin Cancer 2018 Nov 13. Epub 2018 Nov 13.

Department of Urology, Peking University First Hospital, Beijing, China; Institute of Urology, Peking University, Beijing, China; National Urological Cancer Center, Beijing, China. Electronic address:

Background: Programmed death ligand-1 (PD-L1) is a potential predictive biomarker for immunotherapy in several malignancies. However, the expression level and clinical significance of PD-L1 in von Hippel-Lindau (VHL)-associated hereditary clear-cell renal cell carcinoma (ccRCC) remain unclear.

Patients And Methods: Surgical specimens were recruited from 129 patients with sporadic ccRCC and 26 patients with VHL-associated hereditary ccRCC. Read More

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http://dx.doi.org/10.1016/j.clgc.2018.11.001DOI Listing
November 2018
2 Reads

Spontaneous Arrest of Sporadic Spinal Hemangioblastoma Growth after Postoperative Nodular Recurrence: Case Report.

Cureus 2018 Sep 28;10(9):e3380. Epub 2018 Sep 28.

Neurosurgery, The Icahn School of Medicine at Mount Sinai, New York, USA.

Hemangioblastomas are rare, slow-growing, highly vascularized tumors of the central nervous system which often occur in the spinal cord. When presenting as sporadic, isolated tumors without Von-Hippel Lindau disease, they are curable through surgery with a low rate of recurrence. Tumor recurrence in these cases is usually associated with prior subtotal resection. Read More

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http://dx.doi.org/10.7759/cureus.3380DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6263517PMC
September 2018
1 Read

The Rare Neurocutaneous Disorders: Update on Clinical, Molecular, and Neuroimaging Features.

Top Magn Reson Imaging 2018 Dec;27(6):433-462

Division of Pediatric Radiology and Pediatric Neuroradiology, Russell H. Morgan Department of Radiology and Radiological Science, Johns Hopkins University School of Medicine, Baltimore, MD.

Phakomatoses, also known as neurocutaneous disorders, comprise a vast number of entities that predominantly affect structures originated from the ectoderm such as the central nervous system and the skin, but also the mesoderm, particularly the vascular system. Extensive literature exists about the most common phakomatoses, namely neurofibromatosis, tuberous sclerosis, von Hippel-Lindau and Sturge-Weber syndrome. However, recent developments in the understanding of the molecular underpinnings of less common phakomatoses have sparked interest in these disorders. Read More

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http://dx.doi.org/10.1097/RMR.0000000000000185DOI Listing
December 2018
7 Reads

68Ga-DOTA-TOC PET/CT of von Hippel-Lindau Disease.

Clin Nucl Med 2019 Feb;44(2):125-126

From the Divisions of Nuclear Medicine, and.

We present a rare case of a 42-year-old man with a long history of von Hippel-Lindau disease that was scanned with Ga-DOTA-TOC PET/CT for suspicion of disease relapse. Ga-DOTA-TOC imaging demonstrated increased DOTA-TOC uptake in pancreas tail and intramedullary and extramedullary spinal hemangioblastomas, only some of which have already been highlighted at MRI examination. This case illustrates the significant role the Ga-labeled somatostatin receptor analogs PET/CT in the management of the von Hippel-Lindau disease. Read More

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http://dx.doi.org/10.1097/RLU.0000000000002395DOI Listing
February 2019
1 Read

Mutated Von Hippel-Lindau-renal cell carcinoma (RCC) promotes patients specific natural killer (NK) cytotoxicity.

J Exp Clin Cancer Res 2018 Dec 4;37(1):297. Epub 2018 Dec 4.

Functional Genomics, Istituto Nazionale per lo Studio e la Cura dei Tumori, Fondazione "G. Pascale"-IRCCS, Via Semmola, 80131, Naples, Italy.

Background: Previous evidence demonstrated that restoration of wild type VHL in human renal cancer cells decreased in vitro NK susceptibility. To investigate on the role of tumoral VHL status versus NK capability in renal cancer patients, 51 RCC patients were characterized for VHL mutational status and NK function.

Methods: VHL mutational status was determined by direct DNA sequencing on tumor tissue. Read More

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https://jeccr.biomedcentral.com/articles/10.1186/s13046-018-
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http://dx.doi.org/10.1186/s13046-018-0952-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6278085PMC
December 2018
8 Reads

[Mutation analysis for a family affected with von Hippel-Lindau syndrome].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2018 Dec;35(6):860-863

Yinfeng Medical Laboratory, Jinan, Shandong 250000, China.

Objective: To detect VHL gene mutation in a pedigree affected with von Hippel-Lindau syndrome (VHL).

Methods: Clinical data of the pedigree was reviewed. Patients were subjected to Sanger sequencing to detect mutation of the VHL gene. Read More

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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2018.06.020DOI Listing
December 2018
6 Reads

Repurposing propranolol as an antitumor agent in von Hippel-Lindau disease.

J Neurosurg 2018 Oct 1:1-9. Epub 2018 Oct 1.

1Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland.

OBJECTIVEVon Hippel-Lindau disease (VHL) is a tumor predisposition syndrome characterized by CNS hemangioblastomas (HBs) and clear cell renal cell carcinomas (RCCs) due to hypoxia-inducible factor activation (pseudohypoxia). Because of the lack of effective medical therapies for VHL, HBs and RCCs account for significant morbidity and mortality, ultimately necessitating numerous neurological and renal surgeries. Propranolol is an FDA-approved pan-beta adrenergic antagonist with antitumor effects against infantile hemangiomas (IHs) and possibly VHL HBs. Read More

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http://dx.doi.org/10.3171/2018.5.JNS172879DOI Listing
October 2018
1 Read
3.737 Impact Factor

Proposed Classification System for Retinal Capillary Angiomatosis.

Ophthalmic Res 2019 29;61(2):115-119. Epub 2018 Nov 29.

Retina and Uvea Services, Dr. R. P. Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi,

Retinal angiomas are rare tumors that develop within the vascular bed of the retina. Their occurrence may be sporadic or as part of the multisystem disorder called von Hippel-Lindau disease. It is well established in literature that retinal angiomas have a natural history of evolving as small aneurysmal dilatations and progressing to vision-threatening retinal detachments. Read More

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http://dx.doi.org/10.1159/000494498DOI Listing
November 2018
1 Read

A novel mutation in the VHL gene in a Chinese family with von Hippel-Lindau disease.

BMC Med Genet 2018 Nov 26;19(1):204. Epub 2018 Nov 26.

Department of Ophthalmology, Chinese PLA General Hospital, Beijing, 100853, China.

Background: Von Hippel-Lindau (VHL) disease is an autosomal dominant inherited cancer syndrome, and VHL is identified as a tumor suppressor gene. The main objective of this study was to identify disease-causing mutations in a Chinese family affected with VHL disease.

Methods: Genomic DNA was extracted from peripheral blood from a Chinese family with VHL. Read More

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https://bmcmedgenet.biomedcentral.com/articles/10.1186/s1288
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http://dx.doi.org/10.1186/s12881-018-0716-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6258150PMC
November 2018
10 Reads

Recognizing Hereditary Renal Cancers Through the Microscope: A Pathology Update.

Surg Pathol Clin 2018 Dec 17;11(4):725-737. Epub 2018 Oct 17.

Department of Pathology, Memorial Sloan Kettering Cancer Center, 1275 York Avenue, New York, NY 10065, USA. Electronic address:

A heightened understanding of hereditary renal cancer syndromes and their molecular basis has led to an increased awareness and recognition of these renal neoplasms by pathologists. Because a diagnosis of hereditary renal cell carcinoma has a profound impact on the patient and family members, when and how to raise such a suspicion via pathologic assessment has become an important yet very challenging task. This review discusses key clinicopathologic, immunohistochemical, and genetic characteristics of hereditary renal cancer syndromes, and important differential diagnostic challenges, emphasizing recent pathologic and molecular advances. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S18759181183006
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http://dx.doi.org/10.1016/j.path.2018.07.010DOI Listing
December 2018
11 Reads

[Renal cell carcinoma in von Hippel-Lindau disease. Nephron sparing surgery.]

Arch Esp Urol 2018 Nov;71(9):757-764

Hospital Universitario Cruces. Baracaldo. Bizkaia. España.

Objectives: We reviewed the feasibility and safety of nephron sparing surgery for renal cell carcinoma in patients with von Hippel Lindau (VHL) disease.

Methods: We selected 22 patients with (VHL) disease with a mean age of 43 (range 30-56), from whom 16 underwent radical nephrectomy or nephron sparing surgery at our department between 2000 and 2015.

Results: A total of 33 tumors were treated, by either tumorectomy (n=20), partial nephrectomy (n=5), percutaneous renal radiofrequency ablation (n=3) edaor radical nephrectomy (n=5). Read More

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November 2018
12 Reads

[Diagnosis and treatment of pancreatic neuroendocrine neoplasmas in Von Hippel-Lindau syndrome].

Zhonghua Wai Ke Za Zhi 2018 Nov;56(11):869-872

Department of General Surgery, Peking University First Hospital, Beijing 100034, China.

Von Hippel-Lindau(VHL) syndrome is a rare autosomal dominant hereditary disease, and pancreas is one of the frequently involved intra-abdominal organs, including simple pancreatic cysts, pancreatic serous cystadenomas and neuroendocrine neoplasmas. Most of the VHL-related pancreatic neuroendocrine neoplasmas (VHL-pNEN)were non-functional, but they still have a tendency to be malignant. Treatment options for VHL-pNEN include regular follow-up, surgical resection, and medication therapy. Read More

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http://dx.doi.org/10.3760/cma.j.issn.0529-5815.2018.11.017DOI Listing
November 2018

Epiglottic cyst in von Hippel-Lindau syndrome: Shared pathology or a separate entity?

J Anaesthesiol Clin Pharmacol 2018 Jul-Sep;34(3):413-414

Department of Neuroanaesthesiology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, Kerala, India.

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http://dx.doi.org/10.4103/joacp.JOACP_360_15DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6194852PMC
November 2018

Renal Cell Carcinoma in the Era of Precision Medicine: From Molecular Pathology to Tissue-Based Biomarkers.

J Clin Oncol 2018 Oct 29:JCO2018792259. Epub 2018 Oct 29.

Sabina Signoretti and Abdallah Flaifel, Brigham and Women's Hospital; Sabina Signoretti, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA; Ying-Bei Chen and Victor E. Reuter, Memorial Sloan Kettering Cancer Center; and Victor E. Reuter, Weill Cornell Medical College, New York, NY.

Renal cell carcinoma (RCC) is not a single entity but includes various tumor subtypes that have been identified on the basis of either characteristic pathologic features or distinctive molecular changes. Clear cell RCC is the most common type of RCC and is characterized by dysregulation of the von Hippel Lindau/hypoxia-inducible factor pathway. Non-clear cell RCC represents a more heterogeneous group of tumors with diverse histopathologic and molecular features. Read More

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http://ascopubs.org/doi/10.1200/JCO.2018.79.2259
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http://dx.doi.org/10.1200/JCO.2018.79.2259DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6299340PMC
October 2018
13 Reads

Black swans - neuroendocrine tumors of rare locations.

Rev Endocr Metab Disord 2018 Jun;19(2):111-121

ENDOC Center for Endocrine Tumors, Hamburg, Germany.

Neuroendocrine neoplasms (NEN) are rare and heterogeneous. Therefore, they often remain unrecognized for many years, causing significant disease burden. We here report on four unusual NEN presentations including a metastatic NEN of the kidney, hypoglycemia caused by an insulin-like growth factor-2-oma (previously called non-islet-cell tumor hypoglycemia), multifocal pheochromocytoma in von Hippel Lindau syndrome, and ileal NEN metastatic to the heart. Read More

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http://link.springer.com/10.1007/s11154-018-9473-0
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http://dx.doi.org/10.1007/s11154-018-9473-0DOI Listing
June 2018
12 Reads

Expression of renal cell markers and detection of 3p loss links endolymphatic sac tumor to renal cell carcinoma and warrants careful evaluation to avoid diagnostic pitfalls.

Acta Neuropathol Commun 2018 Oct 19;6(1):107. Epub 2018 Oct 19.

Department of Pathology and Laboratory Medicine, Medical University of South Carolina, 171 Ashley Ave, Charleston, 29425, SC, USA.

Endolymphatic sac tumor (ELST) is a rare neoplasm arising in the temporal petrous region thought to originate from endolymphatic sac epithelium. It may arise sporadically or in association with Von-Hippel-Lindau syndrome (VHL). The ELST prevalence in VHL ranges from 3 to 16% and may be the initial presentation of the disease. Read More

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https://actaneurocomms.biomedcentral.com/articles/10.1186/s4
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http://dx.doi.org/10.1186/s40478-018-0607-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6194746PMC
October 2018
10 Reads

VHL-Mediated Regulation of CHCHD4 and Mitochondrial Function.

Front Oncol 2018 4;8:388. Epub 2018 Oct 4.

Department of Medicine, University of Cambridge, Cambridge, United Kingdom.

Dysregulated mitochondrial function is associated with the pathology of a wide range of diseases including renal disease and cancer. Thus, investigating regulators of mitochondrial function is of particular interest. Previous work has shown that the von Hippel-Lindau tumor suppressor protein (pVHL) regulates mitochondrial biogenesis and respiratory chain function. Read More

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https://www.frontiersin.org/article/10.3389/fonc.2018.00388/
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http://dx.doi.org/10.3389/fonc.2018.00388DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6180203PMC
October 2018
13 Reads

Concurrent Schwannoma and Meningioma Arising in the Same Spinal Level: A Report of Two Cases.

NMC Case Rep J 2018 Oct 13;5(4):105-109. Epub 2018 Sep 13.

Department of Neurosurgery, Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima, Hiroshima, Japan.

Concurrent multiple tumors developing in the spinal cord are rare, except for in genetic disorders, such as neurofibromatosis and von Hippel-Lindau disease. Furthermore, concurrent tumors arising in the same spinal level with discrete histopathology are much rarer. We report two such cases. Read More

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https://www.jstage.jst.go.jp/article/nmccrj/5/4/5_cr.2017-02
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http://dx.doi.org/10.2176/nmccrj.cr.2017-0207DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6187259PMC
October 2018
15 Reads

Hemangioblastoma of the optic nerve.

Surv Ophthalmol 2019 Mar - Apr;64(2):175-184. Epub 2018 Oct 13.

Sheffield Ocular Oncology Service, Royal Hallamshire Hospital, Sheffield, UK.

Optic nerve hemangioblastoma is a rare tumor that is usually unilateral and most commonly occurs in the context of von Hippel-Lindau disease. Differential diagnosis is based on clinical history and imaging. Magnetic resonance imaging with gadolinium enhancement is the most useful imaging modality as it can reveal flow voids and an absence of dural attachment, differentiating optic nerve hemangioblastoma from other more commonly encountered optic nerve tumors. Read More

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http://dx.doi.org/10.1016/j.survophthal.2018.10.002DOI Listing
October 2018
3 Reads

[Genetics of pheochromocytoma and the relevance in surgery].

Chirurg 2019 Jan;90(1):15-22

Medizinische Universitätsklinik, Universitätsklinikum Freiburg, Freiburg, Deutschland.

Chromaffin tumors, e.g. pheochromocytomas and paragangliomas are caused by germline mutations of several susceptibility genes in 30-40% of the patients. Read More

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http://link.springer.com/10.1007/s00104-018-0741-z
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http://dx.doi.org/10.1007/s00104-018-0741-zDOI Listing
January 2019
12 Reads

Peripheral retinal nonperfusion using widefield imaging with von Hippel-Lindau disease.

Int J Retina Vitreous 2018 3;4:36. Epub 2018 Oct 3.

3Ocular Oncology Service, Wills Eye Hospital, Thomas Jefferson University, 840 Walnut Street, 14th Floor, Philadelphia, PA 19107 USA.

Background: To describe a case of von Hippel-Lindau disease with peripheral retinal nonperfusion.

Case Presentation: A 66-year-old female with known cerebellar and midbrain hemangioblastomas was evaluated for a retinal hemangioblastoma in the right eye. She underwent widefield fluorescein angiography, which showed hyperfluorescence localized to the hemangioblastoma surrounded by peripheral retinal nonperfusion in the same quadrant. Read More

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http://dx.doi.org/10.1186/s40942-018-0139-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6168996PMC
October 2018
1 Read

Cumulative Radiation Exposures from CT Screening and Surveillance Strategies for von Hippel-Lindau-associated Solid Pancreatic Tumors.

Radiology 2019 Jan 9;290(1):116-124. Epub 2018 Oct 9.

From the Neuroendocrine Tumors Service, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel 52621 (A.T.); Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel (A.T.); Division of Cancer Epidemiology and Genetics (N.J., C. Lee, A.B.d.G.), Department of Radiology and Imaging Sciences (L.R.F., J.Y., W.K., A.M.), and Urologic Oncology Branch (C. Leite, W.M.L.), National Cancer Institute, National Institutes of Health, Bethesda, Md; Centre for Research in Epidemiology and Population Health (CESP), INSERM U1018, Villejuif, France (N.J.); and Department of Surgery and Stanford Cancer Institute, Stanford University, Stanford, Calif (E.K.).

Purpose To assess the potential ionizing radiation exposure from CT scans for both screening and surveillance of patients with von Hippel-Lindau (VHL) syndrome. Materials and Methods For this retrospective study, abdomen-pelvic (AP) and chest-abdomen-pelvic (CAP) CT scans were performed with either a three-phase (n = 1242) or a dual-energy virtual noncontrast protocol (VNC; n = 149) in 747 patients with VHL syndrome in the National Institutes of Health Clinical Center between 2009 and 2015 (mean age, 47.6 years ± 14. Read More

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http://dx.doi.org/10.1148/radiol.2018180687DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6312431PMC
January 2019
21 Reads

CAIX and pax-8 Commonly Immunoreactive in Endolymphatic Sac Tumors: A Clinicopathologic Study of 26 Cases with Differential Considerations for Metastatic Renal Cell Carcinoma in von Hippel-Lindau Patients.

Head Neck Pathol 2018 Oct 5. Epub 2018 Oct 5.

University of Texas, Southwestern Medical Center, Dallas, TX, USA.

Endolymphatic sac tumors (ELSTs) are rare, slowly growing temporal bone neoplasms which show a high association with von Hippel-Lindau (VHL) syndrome. The immunohistochemistry evaluation of these papillary-cystic neoplasms frequently raises the differential diagnosis with renal cell carcinoma, among other metastatic neoplasms, whether in VHL patients or not. A cohort of 26 patients with ELSTs were evaluated for histologic features, immunohistochemistry findings, and association with VHL. Read More

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http://link.springer.com/10.1007/s12105-018-0973-8
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http://dx.doi.org/10.1007/s12105-018-0973-8DOI Listing
October 2018
4 Reads

Von Hippel-Lindau with early onset of hemangioblastoma and multiple drop-metastases like spinal lesions: A case report.

Medicine (Baltimore) 2018 Sep;97(39):e12477

School of Medicine, Texas Tech University Health Science Center, Lubbock, TX.

Rationale: Hemangioblastoma is a rare tumor of the central nervous system (CNS). It is usually observed in patients with von-Hippel Lindau (VHL). The peak age for hemangioblastoma is between 20 and 50 years of age with very few cases over 65 or below 18 years of age. Read More

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http://Insights.ovid.com/crossref?an=00005792-201809280-0005
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http://dx.doi.org/10.1097/MD.0000000000012477DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6181531PMC
September 2018
7 Reads

Management and outcomes of pregnant patients with central nervous system hemangioblastoma.

J Clin Neurosci 2018 Nov 24;57:126-130. Epub 2018 Sep 24.

Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, People's Republic of China. Electronic address:

The study aims to assess the management and maternal and fetal outcomes of pregnancies complicated by central nervous system (CNS) hemangioblastoma. Twenty-four female patients with CNS hemangioblastoma, who were pregnant in a tumor-burden status, were identified. Their medical charts, treatments, and follow-up materials were carefully reviewed. Read More

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http://dx.doi.org/10.1016/j.jocn.2018.08.009DOI Listing
November 2018
4 Reads