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von hippel lindau

Alexandra Colvin, Amanda F Saltzman, Jonathan Walker, Jennifer Bruny, Nicholas G Cost
Pheochromocytoma is a rare chromaffin cell tumor that is may be associated with a genetic predisposition, such as Von Hippel-Lindau (VHL) disease. VHL is an autosomal dominant disorder that is characterized by a predisposition to multiple tumors including retinal and central nervous system hemangioblastomas, renal cell carcinoma and pheochromocytomas. The classic presentation of pheochromocytoma is episodic hypertension, headaches, palpitations, and diaphoresis. In the pediatric population, 40% of pheochromocytomas have a hereditary basis...
March 12, 2018: Urology
Domenico Murrone, Bruno Romanelli, Nicola Montemurro, Domenico Chirchiglia, Aldo Ierardi
Background: Von Hippel-Lindau (VHL) disease is an autosomal dominant condition characterized by formation of multiple benign and malignant tumors. In this disease supratentorial lesions are rare and no falcine meningioma has been previously reported. Differential diagnosis is very difficult and the histopathological examination is the definitive method for diagnosis. Case Description: A patient with VHL underwent a suboccipital craniotomy for removal of cerebellar hemangioblastoma and after 2 years magnetic resonance imaging (MRI) showed an iperintense solid mass located at posterior part of the falx...
2018: Surgical Neurology International
Yongchang Lai, Zhijian Zhao, Tao Zeng, Xiongfa Liang, Dong Chen, Xiaolu Duan, Guohua Zeng, Wenqi Wu
Clear cell renal cell carcinoma (ccRCC) is the most common subtype of renal cell carcinoma (RCC), and is frequently accompanied by the genetic features of von Hippel-Lindau (VHL) loss. VHL loss increases the expression of hypoxia-inducible factors (HIFs) and their targets, including epidermal growth factor (EGF), vascular endothelial growth factor (VEGF), and platelet-derived growth factor (PDGF). The primary treatment for metastatic RCC (mRCC) is molecular-targeted therapy, especially anti-angiogenic therapy...
2018: Cancer Cell International
Faraz Farhadi, Moozhan Nikpanah, Xiaobai Li, Rolf Symons, Amir Pourmorteza, Maria J Merino, W Marston Linehan, Ashkan A Malayeri
PURPOSE: To determine whether the type of VHL gene pathogenic variant influences the growth rate or CT enhancement values of renal lesions in VHL patients. MATERIALS AND METHODS: Thirty-two VHL patients (19 male) were selected from a prospectively maintained imaging database for patients that underwent surgical tumor resection between 2014 and 2016. One hundred and eleven VHL lesions were marked for resection and pathology analysis. Whole lesion volumetric segmentation was performed on nephrographic phase of the two most recent contrast-enhanced CT scans before surgery...
March 10, 2018: Abdominal Radiology
Ru Zhao Dong, Feng Xiao Dong, Qi Tianq Liu, Ting Xu Zhi, Jie Zou, Tao Jing Zhong, Tao Li, Lan Xiang Mo, Wei Zhou, Wen Wen Guo, Xia Liu, Yuan Yuan Chen, Yang Meng Li, Xiao Gang Zhong, Min Ya Han, Hao Zhong Wang
PURPOSE: Hypoxia-inducible factor (HIF)-2α is regarded as a preferential target for individualized HCC treatment and sorafenib resistance. Our study aimed to identify the regulatory mechanisms of HIF-2α activity under hypoxic conditions. We sought to determine whether the COX-2/PGE2 axis is involved in the regulatory mechanisms of HIF-2α activity and of sorafenib resistance in hypoxic HCC cells. EXPERIMENTAL DESIGN: The cell viability, migration and invasion abilities were measured to analyze the effects of HIF-2α on hypoxic HCC cells...
March 7, 2018: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
Maya Barben, Christian Schori, Marijana Samardzija, Christian Grimm
BACKGROUND: Degeneration of cone photoreceptors leads to loss of vision in patients suffering from age-related macular degeneration (AMD) and other cone dystrophies. Evidence, such as choroidal ischemia and decreased choroidal blood flow, implicates reduced tissue oxygenation in AMD pathology and suggests a role of the cellular response to hypoxia in disease onset and progression. Such a chronic hypoxic situation may promote several cellular responses including stabilization of hypoxia-inducible factors (HIFs)...
March 7, 2018: Molecular Neurodegeneration
Marie Louise Mølgaard Binderup
von Hippel-Lindau disease (vHL) is a hereditary tumor predisposition caused by mutations in the VHL tumor suppressor gene. VHL mutation-carriers are at life-long risk of multi-organ tumor development. The mainstay of vHL management is close surveillance and surgical tumor removal. The disease has been reported to be fully penetrant at 60 years of age, and has a highly variable phenotype, which complicates vHL management and causes distress and uncertainty for affected families. vHL survival has historically been poorer than the survival of the general population, with a median life expectancy for vHL patients of only 49 years...
March 2018: Danish Medical Journal
Annelies Verbiest, Diether Lambrechts, Thomas Van Brussel, Gabrielle Couchy, Agnieszka Wozniak, Arnaud Méjean, Evelyne Lerut, Stéphane Oudard, Virginie Verkarre, Sylvie Job, Aurélien de Reynies, Jean-Pascal Machiels, Jean-Jacques Patard, Jessica Zucman-Rossi, Benoit Beuselinck
BACKGROUND: Clear-cell renal-cell carcinoma (ccRCC) is characterized by loss of a functional Von Hippel-Lindau (VHL) protein. We investigated the potential of 3 single nucleotide polymorphisms (SNPs) in VHL as biomarkers in metastatic ccRCC (m-ccRCC) patients treated with vascular endothelial growth factor receptor (VEGFR) tyrosine kinase inhibitors (TKIs). PATIENTS AND METHODS: We genotyped 3 VHL SNPs in 199 m-ccRCC patients: rs1642742 T > C, rs1642743 A > G, and rs1678607 C > A...
February 5, 2018: Clinical Genitourinary Cancer
Yutaka Endo, Minoru Kitago, Akira Miyajima, Isao Kurihara, Kaori Kameyama, Masahiro Shinoda, Hiroshi Yagi, Yuta Abe, Taizo Hibi, Chisato Takagi, Yutaka Nakano, Wataru Koizumi, Osamu Itano, Yuko Kitagawa
INTRODUCTION: von Hippel-Lindau disease (vHL disease) is a hereditary disease in which tumors and cysts develop in many organs, in association with central nervous system hemangioblastomas, pheochromocytomas, and pancreatic tumors. We herein report a case of vHL disease (type 2A) associated with bilateral pheochromocytomas, pancreatic neuroendocrine tumors (PNET), and cerebellar hemangioblastomas treated via pancreatectomy after adrenalectomy. CASE PRESENTATION: A 51-year-old woman presented with a cerebellar tumor, bilateral hypernephroma, and pancreatic tumor detected during a medical checkup...
February 16, 2018: International Journal of Surgery Case Reports
Georges Sinclair, Yehya Al-Saffar, Marina Brigui, Heather Martin, Jessica Bystam, Hamza Benmakhlouf, Alia Shamikh, Ernest Dodoo
Background: Although widely regarded as rare epithelial tumors with a low grade of malignancy, endolymphatic sac tumors (ELST) often lead to disabling petrous bone destruction and significantly impairing symptoms at the time of primary diagnosis and/or recurrence. ELST is not uncommon in von Hippel Lindau (VHL) patients. Although open surgery is regarded as the best treatment option, recurrence remains a challenge, particularly when gross tumor resection (GTR) is deemed unachievable due to topographic conditions...
2018: Surgical Neurology International
Masami Miki, Ken Kawabe, Hisato Igarashi, Tatsuro Abe, Yoshihiro Ohishi, Risa Hashimoto, Takashi Karashima, Ichiro Yamasaki, Keiji Inoue, Tetsuhide Ito, Yoshihiro Ogawa
A 45-year old woman who underwent several surgeries for tumors associated with von Hippel Lindau disease (VHL) was referred to our hospital due to a pancreatic tumor and liver tumors. She was diagnosed with pancreatic neuroendocrine tumor (NET) with a Ki67 index of 40% based on the examination of a biopsy specimen of the liver tumors. She was treated with everolimus for 6 months and sunitinib for 6 weeks as first- and second-line therapies. She survived for 13 months. At autopsy the diagnosis of pancreatic neuroendocrine tumor (NET)-G3 was confirmed...
February 28, 2018: Internal Medicine
Shohei Nambu, Ryohei Otani, Fumi Higuchi, Takeo Uzuka, Hadzki Matsuda, Phyo Kim, Keisuke Ueki
Hemangioblastoma is usually amenable to total surgical resection, but indication for surgery can be hampered by its location, multiplicity, or repeated recurrences frequently observed in patients with von Hippel Lindau disease (VHLD). Stereotactic radiosurgery (SRS) has been administered for such cases as an alternative therapeutic option with generally favorable clinical response, but the effect of SRS has not been underscored by histological examination of the treated hemangioblastoma. Here we present histology of VHLD-associated hemangioblastoma tissue resected three months after SRS because of cyst enlargement...
February 23, 2018: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
Damien Ambrosetti, Maeva Dufies, Bérengère Dadone, Matthieu Durand, Delphine Borchiellini, Jean Amiel, Jacques Pouyssegur, Nathalie Rioux-Leclercq, Gilles Pages, Fanny Burel-Vandenbos, Nathalie M Mazure
BACKGROUND: Clear-cell renal cell carcinoma (ccRCC) is the most common type of kidney cancer. Although ccRCC is characterized by common recurrent genetic abnormalities, including inactivation of the von Hippel-Lindau (vhl) tumor suppressor gene resulting in stabilization of hypoxia-inducible factors (HIFs), the tumor aggressiveness and outcome of ccRCC is variable. New biomarkers are thus required to improve ccRCC diagnosis, prognosis and therapeutic options. This work aims to investigate the expression of HIF and proteins involved in metabolism and pH regulation...
2018: PloS One
Emily Kim, Stefan Zschiedrich
von Hippel-Lindau (VHL) disease is an autosomal dominant syndrome caused by mutations in the VHL tumor-suppressor gene, leading to the dysregulation of many hypoxia-induced genes. Affected individuals are at increased risk of developing recurrent and bilateral kidney cysts and dysplastic lesions which may progress to clear cell renal cell carcinoma (ccRCC). Following the eponymous VHL gene inactivation, ccRCCs evolve through additional genetic alterations, resulting in both intratumor and intertumor heterogeneity...
2018: Frontiers in Pediatrics
Susan Perlman
The primary neurologic involvement in both von Hippel-Lindau (VHL) disease and Sturge-Weber syndrome (SWS) is vascular tumor/vascular malformation, but molecular pathogenesis, long-term symptom evolution, and treatment are quite different. VHL is caused by dominant inherited or de novo germline mutations, while SWS is caused by somatic mosaicism. A diagnosis of VHL carries substantial cancer risk, while the clinical issues in SWS are primarily related to the consequences of the intracranial vascular abnormalities...
2018: Handbook of Clinical Neurology
Alexandra Arreola, Laura Beth Payne, Morgan H Julian, Aguirre A de Cubas, Anthony B Daniels, Sarah Taylor, Huaning Zhao, Jordan Darden, Victoria L Bautch, W Kimryn Rathmell, John C Chappell
Von Hippel-Lindau (VHL) gene mutations induce neural tissue hemangioblastomas, as well as highly vascularized clear cell renal cell carcinomas (ccRCCs). Pathological vessel remodeling arises from misregulation of HIFs and VEGF, among other genes. Variation in disease penetrance has long been recognized in relation to genotype. We show Vhl mutations also disrupt Notch signaling, causing mutation-specific vascular abnormalities, e.g., type 1 (null) vs. type 2B (murine G518A representing human R167Q). In conditional mutation retina vasculature, Vhl-null mutation (i...
February 22, 2018: JCI Insight
Saeed Karimi, Homayoun Nikkhah, Hamid Ahmadieh, Sare Safi
PURPOSE: The purpose of this study was to evaluate the safety and efficacy of intravitreal propranolol for the management of retinal capillary hemangioma in a patient with Von Hippel-Lindau. METHODS: Two intravitreal injections of 50 μg/0.05 mL propranolol were administered 6 weeks apart in the left eye of a 26-year-old patient with bilateral multiple retinal capillary hemangiomas. Safety and response to therapy were evaluated using electroretinogram, fluorescein angiography, and measurement of visual acuity...
February 19, 2018: Retinal Cases & Brief Reports
Claire M Robinson, Francois Lefebvre, Betty P Poon, Aurelie Bousard, Xiaojun Fan, Mark Lathrop, Jorg Tost, William Y Kim, Yasser Riazalhosseini, Michael Ohh
In clear-cell renal cell carcinoma (ccRCC), loss of von Hippel-Lindau (VHL) tumour suppressor gene and reduced oxygen tension promote stabilisation of hypoxia-inducible factor (HIF) family of transcription factors, which promote changes in the expression of genes that contribute to oncogenesis. Multiple studies have demonstrated significant perturbations in DNA methylation in ccRCC via largely unclear mechanisms that modify the transcriptional output of tumour cells. Here, we show that the methylation status of the CpG dinucleotide within the consensus hypoxia-responsive element (HRE) markedly influences the binding of HIF and that the loss of VHL results in significant alterations in the DNA methylome...
February 20, 2018: Scientific Reports
Holger Moch, Riuko Ohashi, Jatin S Gandhi, Mahul B Amin
An important emerging role of the surgical pathologist besides the traditional tasks of establishment of the diagnosis and documentation of prognostic and predictive factors, is to recognize the possibility of a hereditary condition in cases where the histology is suggestive for a familial cancer syndrome. In recent years, the knowledge regarding all of the above roles, including the role of recognition of familial cancer, has particularly expanded in renal neoplasms with the close scrutiny to morphology, molecular correlates and clinical features of the different sub-types of renal cell carcinoma...
February 14, 2018: Seminars in Diagnostic Pathology
Katarina Kluckova, Daniel A Tennant
Hypoxia is a critical driver of cancer pathogenesis, directly inducing malignant phenotypes such as epithelial-mesenchymal transition, stem cell-like characteristics and metabolic transformation. However, hypoxia-associated phenotypes are often observed in cancer in the absence of hypoxia, a phenotype known as pseudohypoxia, which is very well documented in specific tumour types, including in paraganglioma/pheochromocytoma (PPGL). Approximately 40% of the PPGL tumours carry a germ line mutation in one of a number of susceptibility genes of which those that are found in succinate dehydrogenase (SDH) or in von Hippel-Lindau (VHL) genes manifest a strong pseudohypoxic phenotype...
February 15, 2018: Cell and Tissue Research
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