4,151 results match your criteria Von Hippel-Lindau Syndrome


Endocrine Manifestations of Von Hippel-Landau Disease.

Indian J Endocrinol Metab 2019 Jan-Feb;23(1):159-164

Department of Endocrinology, SGPGIMS, Lucknow, Uttar Pradesh, India.

Von Hippel-Lindau (VHL) disease is an autosomal dominant disorder characterized by various endocrine, nonendocrine, benign, and malignant tumors in various organs. VHL tumor suppressor gene, located on short arm of chromosome 3 is responsible for this. Pheochromocytoma (PCC) is one of the important endocrine manifestations that needs to be ruled out in case of VHL suspicion. Read More

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http://www.ijem.in/text.asp?2019/23/1/159/254446
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http://dx.doi.org/10.4103/ijem.IJEM_252_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6446673PMC
April 2019
1 Read

Retinal capillary hemangioblastoma associated with retinochoroidal coloboma in Von Hippel-Lindau disease.

Indian J Ophthalmol 2019 May;67(5):688-690

Department of Ophthalmology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.

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http://dx.doi.org/10.4103/ijo.IJO_1564_18DOI Listing

Acute Angle Closure Glaucoma in Von Hippel-Lindau Syndrome.

Ophthalmology 2019 May;126(5):691

Department of Ophthalmology, Duke Eye Center, Duke University, Durham North Carolina.

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https://linkinghub.elsevier.com/retrieve/pii/S01616420193036
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http://dx.doi.org/10.1016/j.ophtha.2019.02.009DOI Listing
May 2019
3 Reads

Targeting Tyrosine kinases in Renal Cell Carcinoma: "New Bullets against Old Guys".

Int J Mol Sci 2019 Apr 17;20(8). Epub 2019 Apr 17.

Medical Oncology Department, The Ramón y Cajal Health Research Institute (IRYCIS), CIBERONC, Alcalá University, University Hospital Ramon y Cajal, 28034 Madrid, Spain.

Clear cell renal cell carcinoma (ccRCC) is the seventh most frequently diagnosed tumor in adults in Europe and represents approximately 2.5% of cancer deaths. The molecular biology underlying renal cell carcinoma (RCC) development and progression has been a key milestone in the management of this type of tumor. Read More

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https://www.mdpi.com/1422-0067/20/8/1901
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http://dx.doi.org/10.3390/ijms20081901DOI Listing
April 2019
2 Reads

Spontaneous Hyaloidal Contraction and Complex Retinal Detachment in a Patient With Von Hippel-Lindau Syndrome.

Ophthalmic Surg Lasers Imaging Retina 2019 Apr;50(4):238-241

The authors present an interventional case report of a patient with von Hippel-Lindau (VHL) syndrome who developed simultaneous exudative and combined tractional, rhegmatogenous, and exudative retinal detachment (RD) in the right and left eyes, respectively, following uneventful cryotherapy application of retinal capillary hemangioblastoma (RCH). After pars plana vitrectomy combined with encircling scleral buckling with radial element placement and silicone oil injection, complete retinal reattachment was achieved. The exudative RD of the fellow eye was managed initially with intense topical corticosteroid treatment and subsequent placement of a radial scleral buckle due to the presence of clinically apparent traction. Read More

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http://dx.doi.org/10.3928/23258160-20190401-07DOI Listing

68Ga DOTATATE PET/CT Versus 18F-FDG PET/CT for Detecting Intramedullary Hemangioblastoma in a Patient With Von Hippel-Lindau Disease.

Clin Nucl Med 2019 Apr 12. Epub 2019 Apr 12.

Nuclear Medicine & Molecular Imaging Department, Imam Reza International University, Mashhad, Iran.

Von Hippel-Lindau disease is an inherited syndrome associated with several benign and malignant tumors such as central nervous system (CNS) hemangioblastoma. Herein, we report a known case of A Von Hippel-Lindau patient with a cerebral hemangioblastoma who was referred for further evaluation because of recent paraparesis. F-FDG PET/CT showed no focal uptake in the thoracic spine, which demonstrated increased Ga DOTATATE activity, owing to overexpression of somatostatin receptors, suggesting spinal cord hemangioblastoma. Read More

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http://dx.doi.org/10.1097/RLU.0000000000002565DOI Listing
April 2019
1 Read

Photocoagulation for juxtapapillary retinal hemangioma in a young girl: A case report.

Mol Clin Oncol 2019 May 14;10(5):521-523. Epub 2019 Mar 14.

Department of Ophthalmology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Hokkaido 060-8638, Japan.

von Hippel Lindau (VHL) disease is caused by inactivation of the VHL tumor suppressor gene, resulting in formation of multiple systemic tumors. Juxtapapillary retinal capillary hemangioma (JRCH) is one of the major manifestations in VHL disease; however, treatments are challenging, especially in children. The present study reports the case of a 6-year-old girl with suspected VHL disease presenting with JRCH. Read More

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http://www.spandidos-publications.com/10.3892/mco.2019.1824
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http://dx.doi.org/10.3892/mco.2019.1824DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6449904PMC
May 2019
11 Reads

A synonymous VHL variant in exon 2 confers susceptibility to familial pheochromocytoma and von Hippel-Lindau disease.

J Clin Endocrinol Metab 2019 Apr 4. Epub 2019 Apr 4.

Division of Hematology and Medical Oncology, Department of Medicine, Mays Cancer Center, UT Health San Antonio, San Antonio, TX, USA.

Context: von Hippel-Lindau disease, comprising renal cancer, hemangioblastoma and/or pheochromocytoma (PHEO) is caused by missense or truncating variants of the VHL tumor suppressor gene, which is involved in degradation of hypoxia inducible factors (HIFs). However, the role of synonymous VHL variants in the disease is unclear.

Objective: We evaluated a synonymous VHL variant in patients with familial PHEO or VHL disease without a detectable pathogenic VHL mutation. Read More

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http://dx.doi.org/10.1210/jc.2019-00235DOI Listing
April 2019
3 Reads

Distinctive clinicopathological features of Von Hippel-Lindau-associated hereditary renal cell carcinoma: A single-institution study.

Oncol Lett 2019 May 1;17(5):4600-4606. Epub 2019 Mar 1.

Department of Urology, Peking University First Hospital, Beijing 100034, P.R. China.

Von Hippel-Lindau (VHL) disease is a genetic syndrome that involves the development of tumors in numerous organs. The kidney is one of the most frequently affected organs, and patients with VHL and renal tumors require repeated nephrectomy. The present study aimed to further determine the clinicopathological characteristics of patients with VHL-associated renal cell carcinoma (RCC), which may allow more rational clinical treatment decisions. Read More

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http://dx.doi.org/10.3892/ol.2019.10091DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6444392PMC
May 2019
2 Reads

Genotype-phenotype relations of the von Hippel-Lindau tumor suppressor inferred from a large-scale analysis of disease mutations and interactors.

PLoS Comput Biol 2019 Apr 3;15(4):e1006478. Epub 2019 Apr 3.

Department of Biomedical Sciences, University of Padova, Padova, Italy.

Familiar cancers represent a privileged point of view for studying the complex cellular events inducing tumor transformation. Von Hippel-Lindau syndrome, a familiar predisposition to develop cancer is a clear example. Here, we present our efforts to decipher the role of von Hippel-Lindau tumor suppressor protein (pVHL) in cancer insurgence. Read More

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http://dx.doi.org/10.1371/journal.pcbi.1006478DOI Listing
April 2019
4 Reads

SEGMENTAL DIFFUSE VASCULAR LEAKAGE: A FLUORESCEIN ANGIOGRAPHIC FINDING IN PATIENTS WITH VON HIPPEL-LINDAU DISEASE.

Retin Cases Brief Rep 2019 Mar 28. Epub 2019 Mar 28.

Department of Ophthalmology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois.

Purpose: To describe a novel fluorescein angiographic finding in patients with von Hippel-Lindau disease.

Methods: Retrospective case series of patients diagnosed with retinal capillary hemangioblastoma (RCH) in the setting of von Hippel-Lindau.

Results: We identified six eyes of three patients with von Hippel-Lindau and leaky retinal vessels. Read More

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http://dx.doi.org/10.1097/ICB.0000000000000868DOI Listing
March 2019
1 Read

Fully endoscopic minimally-invasive tumor resection for cystic cerebellar hemangioblastoma: Technical Note.

World Neurosurg 2019 Mar 25. Epub 2019 Mar 25.

Department of Neurosurgery, the University of Tokyo Hospital, Tokyo, Japan.

Background: von-Hippel Lindau disease (VHL)-related hemangioblastoma is likely to occur in the cerebellum and accompany a cyst. Since multiple hemangioblastomas commonly occur in VHL and multiple surgeries may thus be necessary, a minimally-invasive surgical strategy is of great importance.

Methods: We present two patients with VHL-related hemangioblastomas successfully treated by a fully-endoscopic transcranial approach via a short skin incision and a 2 cm × 2 cm small bony window. Read More

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http://dx.doi.org/10.1016/j.wneu.2019.03.158DOI Listing

Adrenal adenoma in von Hippel-Lindau syndrome: A case report with review of literature.

J Cancer Res Ther 2019 Mar;15(Supplement):S163-S166

Department of Pathology, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, India.

A 29-year-old hypertensive male with von Hippel-Lindau (VHL) syndrome came to the Endocrinology department for evaluation. Contrast-enhanced computed tomography of the abdomen revealed an adrenal mass, bilateral renal cell carcinoma, and multiple pancreatic cysts. The hormonal investigations for adrenal mass were normal. Read More

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http://dx.doi.org/10.4103/jcrt.JCRT_127_18DOI Listing
March 2019
2 Reads

Long-Term Combinatorial Exposure to Trichloroethylene and Inorganic Arsenic in Genetically Heterogeneous Mice Results in Renal Tubular Damage and Cancer-Associated Molecular Changes.

G3 (Bethesda) 2019 Mar 21. Epub 2019 Mar 21.

Texas A&M University

Trichloroethylene (TCE) and inorganic arsenic (iAs) are environmental contaminants that can target the kidney. Chronic exposure to TCE is associated with increased incidence of renal cell carcinoma, while co-exposure to TCE and iAs likely occurs in exposed human populations, such as those near Superfund sites. In order to better understand the kidney health consequences of TCE and/or iAs exposure, a genetically heterogeneous mouse population derived from FVB/NJ and CAST/EiJ mouse strains and deficient for multidrug resistance genes ( ) was chronically exposed for 52-weeks to varying concentrations of TCE and iAs. Read More

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http://dx.doi.org/10.1534/g3.119.400161DOI Listing
March 2019
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Familial Cavernous Hemangioma.

J Neuroophthalmol 2019 Mar 18. Epub 2019 Mar 18.

Baylor College of Medicine (GT), Houston, Texas; Department of Ophthalmology (ATK, BAO, AGL), Blanton Eye Institute, Houston Methodist Hospital, Houston, Texas; The Houston Methodist Research Institute (AGL), Houston Methodist Hospital, Houston, Texas; Departments of Ophthalmology, Neurology, and Neurosurgery (AGL), Weill Cornell Medicine, New York, New York; Department of Ophthalmology (AGL), University of Texas Medical Branch, Galveston, Texas; University of Texas MD Anderson Cancer Center (AGL), Houston, Texas; Texas A and M College of Medicine (AGL), Bryan, Texas; and Department of Ophthalmology (AGL), The University of Iowa Hospitals and Clinics, Iowa City, Iowa.

A 30-year-old woman presented with diplopia after resection of an intracranial cavernous malformation. Fundus examination showed an asymptomatic intraocular cavernous hemangioma of the retina. Clinicians should be aware of the potential coexistence of intraocular and intracranial cavernous malformations; the presence of both should suggest familial etiology. Read More

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http://dx.doi.org/10.1097/WNO.0000000000000778DOI Listing
March 2019
4 Reads

von Hippel-Lindau mutants in renal cell carcinoma are regulated by increased expression of RSUME.

Cell Death Dis 2019 Mar 19;10(4):266. Epub 2019 Mar 19.

Instituto de Investigación en Biomedicina de Buenos Aires (IBioBA)-CONICET-Partner Institute of the Max Planck Society, Godoy Cruz 2390, C1425FQD, Buenos Aires, Argentina.

Renal cell carcinoma (RCC) is the major cause of death among patients with von Hippel-Lindau (VHL) disease. Resistance to therapies targeting tumor angiogenesis opens the question about the underlying mechanisms. Previously we have described that RWDD3 or RSUME (RWD domain-containing protein SUMO Enhancer) sumoylates and binds VHL protein and negatively regulates HIF degradation, leading to xenograft RCC tumor growth in mice. Read More

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http://dx.doi.org/10.1038/s41419-019-1507-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6424967PMC
March 2019
1 Read

Retinal Capillary Hemangioblastomas in a Parent and Child With von Hippel-Lindau Disease.

JAMA Ophthalmol 2019 Mar 14;137(3):e186508. Epub 2019 Mar 14.

Department of Ophthalmology, Wake Forest University School of Medicine, Winston-Salem, North Carolina.

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http://dx.doi.org/10.1001/jamaophthalmol.2018.6508DOI Listing

Von Hippel Lindau Disease.

J Pediatr 2019 Mar 7. Epub 2019 Mar 7.

Department of Ophthalmology, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.

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http://dx.doi.org/10.1016/j.jpeds.2019.01.053DOI Listing

Pharmacological restoration of visual function in a zebrafish model of von-Hippel Lindau disease.

Dev Biol 2019 Feb 27. Epub 2019 Feb 27.

UCD School of Biomolecular & Biomedical Science, UCD Conway Institute, University College Dublin, D04 V1W8, Ireland. Electronic address:

Von Hippel-Lindau (VHL) syndrome is a rare, autosomal dominant disorder, characterised by hypervascularised tumour formation in multiple organ systems. Vision loss associated with retinal capillary hemangioblastomas remains one of the earliest complications of VHL disease. The mortality of Vhl mice in utero restricted modelling of VHL disease in this mammalian model. Read More

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http://dx.doi.org/10.1016/j.ydbio.2019.02.008DOI Listing
February 2019
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High kinesin family member 11 expression predicts poor prognosis in patients with clear cell renal cell carcinoma.

J Clin Pathol 2019 May 28;72(5):354-362. Epub 2019 Feb 28.

State Key Laboratory of Reproductive Regulation & Breeding of Grassland Livestock, College of Biological Sciences, Inner Mongolia University, Inner Mongolia, China

Aims: Kinesin family member 11 (Kif11) is a member of the kinesin family motor proteins, which is associated with spindle formation and tumour genesis. In this study, we investigated the relationship between Kif11 expression and clear cell renal cell carcinoma (CCRCC) development.

Methods: The relationship between Kif11 expression and CCRCC development was analysed by quantitative real-time (qRT)-PCR analyses, and tissue immunohistochemistry. Read More

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http://dx.doi.org/10.1136/jclinpath-2018-205390DOI Listing
May 2019
1 Read

Vitamin D/VDR signaling inhibits LPS-induced IFNγ and IL-1β in Oral epithelia by regulating hypoxia-inducible factor-1α signaling pathway.

Cell Commun Signal 2019 02 27;17(1):18. Epub 2019 Feb 27.

Department of Oral Medicine, Shanxi Medical University School and Hospital of Stomatology, NO. 56 Xinjian South Road, Taiyuan, 030001, Shanxi, China.

Background: Oral lichen planus (OLP) is known as a chronic inflammatory disease. Our recent studies have suggested that vitamin D/vitamin D receptor (VDR) signaling exerts its protective effects on oral keratinocyte apoptosis by regulating microRNA-802 and p53-upregulated modulator of apoptosis (PUMA), but its roles in oral epithelial inflammatory responses in OLP are still unknown. Herein, we identify lipopolysaccharide (LPS) is able to enhance interferon gamma (IFNγ) and interleukin-1 beta (IL-1β) productions in human oral keratinocytes (HOKs) dependent on hypoxia-inducible factor-1α (HIF-1α). Read More

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http://dx.doi.org/10.1186/s12964-019-0331-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6391768PMC
February 2019

VEGFC acts as a double-edged sword in renal cell carcinoma aggressiveness.

Theranostics 2019 21;9(3):661-675. Epub 2019 Jan 21.

University of Nice Sophia Antipolis, Institute for research on cancer and aging of Nice, CNRS UMR 7284; INSERM U1081, Centre Antoine Lacassagne, France.

Hypoxic zones are common features of metastatic tumors. Due to inactivation of the von Hippel-Lindau gene (), renal cell carcinomas (RCC) show constitutive stabilization of the alpha subunit of the hypoxia-inducible factor (HIF). Thus, RCC represents a model of chronic hypoxia. Read More

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http://dx.doi.org/10.7150/thno.27794DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6376471PMC
January 2019
11 Reads

Survival and prognostic factors analysis of 151 intestinal and pancreatic neuroendocrine tumors: a single center experience.

J Gastrointest Oncol 2019 Feb;10(1):103-111

IMAD, Department of Gastroenterology & Digestive Oncology, Nantes University Hospital, Nantes, France.

Background: Intestinal and pancreatic neuroendocrine tumors (IP-NETs) are rare tumors with heterogeneous outcomes. The aim of our study was to determine the clinical, therapeutic and pathological factors which impact the overall survival (OS) in IP-NETs.

Methods: All the patients diagnosed with IP-NETs at the Nantes University Hospital between October 1994 and October 2013 were retrospectively analysed. Read More

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http://dx.doi.org/10.21037/jgo.2018.09.13DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6351302PMC
February 2019
1 Read

Bivalent Ligands for Protein Degradation in Drug Discovery.

Comput Struct Biotechnol J 2019 25;17:160-176. Epub 2019 Jan 25.

Mercachem BV, Kerkenbos 1013, 6546 BB, Nijmegen, the Netherlands.

Targeting the "undruggable" proteome remains one of the big challenges in drug discovery. Recent innovations in the field of targeted protein degradation and manipulation of the ubiquitin-proteasome system open up new therapeutic approaches for disorders that cannot be targeted with conventional inhibitor paradigms. Proteolysis targeting chimeras (PROTACs) are bivalent ligands in which a compound that binds to the protein target of interest is connected to a second molecule that binds an E3 ligase via a linker. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S20010370183025
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http://dx.doi.org/10.1016/j.csbj.2019.01.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6369262PMC
January 2019
6 Reads

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
1 Read
5.043 Impact Factor

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
6 Reads

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
March 2019
6 Reads

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, 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
2 Reads

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

J Clin Neurosci 2019 May 4;63:240-243. 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
May 2019
1 Read

Optimization of Next-Generation Sequencing Technologies for von Hippel Lindau (VHL) Mosaic Mutation Detection and Development of Confirmation Methods.

J Mol Diagn 2019 Feb 5. Epub 2019 Feb 5.

UMR-S 1172-Jean-Pierre Aubert Research Center, University of Lille, Lille, France; INSERM, UMR-S 1172, Team on Mucins, Epithelial Differentiation and Carcinogenesis, Lille, France; Department of Biochemistry and Molecular Biology, Centre Hospitalier Régional et Universitaire de Lille, Lille, France. 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 with 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
5 Reads

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
March 2019
4 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
3 Reads

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
13 Reads

Reciprocal regulation of integrin β4 and KLF4 promotes gliomagenesis through maintaining cancer stem cell traits.

J Exp Clin Cancer Res 2019 Jan 18;38(1):23. Epub 2019 Jan 18.

Department of Neurosurgery, Second Affiliated Hospital, Institute of Cancer Stem Cell, Dalian Medical University, Dalian, 116027, China.

Background: The dismal prognosis of patients with glioma is largely attributed to cancer stem cells that display pivotal roles in tumour initiation, progression, metastasis, resistance to therapy, and relapse. Therefore, understanding how these populations of cells maintain their stem-like properties is critical in developing effective glioma therapeutics.

Methods: RNA sequencing analysis was used to identify genes potentially involved in regulating glioma stem cells (GSCs). Read More

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http://dx.doi.org/10.1186/s13046-019-1034-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6339386PMC
January 2019
1 Read

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
4 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 Apr;30(4):425-427

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
April 2019
6 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
4 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
12 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
2 Reads

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

Arterioscler Thromb Vasc Biol 2019 Mar;39(3):467-481

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
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6393167PMC
March 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
12 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
2 Reads

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
1 Read

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
3 Reads

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
1 Read

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 2019 Apr 13;17(2):97-104.e1. 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
April 2019
5 Reads