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https://www.readbyqxmd.com/read/28925400/the-hif-and-other-quandaries-in-vhl-disease
#1
REVIEW
D Tarade, M Ohh
Mutations in VHL underlie von Hippel-Lindau (VHL) disease, a hereditary cancer syndrome with several subtypes depending on the risk of developing certain combination of classic features, such as clear cell renal cell carcinoma (ccRCC), hemangioblastoma and pheochromocytoma. Although numerous potential substrates and functions of pVHL have been described over the past decade, the best-defined role of pVHL has remained as the negative regulator of the heterodimeric hypoxia-inducible factor (HIF) transcription factor via the oxygen-dependent ubiquitin-mediated degradation of HIF-α subunit...
September 18, 2017: Oncogene
https://www.readbyqxmd.com/read/28919049/perioperative-outcomes-of-syndromic-paraganglioma-and-pheochromocytoma-resection-in-patients-with-von-hippel-lindau-disease-multiple-endocrine-neoplasia-type-2-or-neurofibromatosis-type-1
#2
James J Butz, Qi Yan, Travis J McKenzie, Toby N Weingarten, Alexandre N Cavalcante, Irina Bancos, William F Young, Darrell R Schroeder, David P Martin, Juraj Sprung
BACKGROUND: Pheochromocytoma and/or paraganglioma associated with neurofibromatosis type 1, multiple endocrine neoplasia type 2A, and von Hippel-Lindau disease have different catecholamine biochemical phenotypes. We examined perioperative outcomes of pheochromocytoma/paraganglioma resection in 3 syndromic forms. METHODS: Retrospective review of patients undergoing resection of syndromic pheochromocytoma/paraganglioma from 2000 through 2016. RESULTS: Eighty-one patients underwent pheochromocytoma/paraganglioma resection (multiple endocrine neoplasia type 2A, n = 36; neurofibromatosis type 1, n = 26; von Hippel-Lindau disease, n = 19)...
September 14, 2017: Surgery
https://www.readbyqxmd.com/read/28918405/renal-cell-carcinoma-with-isolated-metastasis-to-sigmoid-mesentery-a-rare-resectable-combination
#3
Hira Lal, Priyank Yadav, Shashidhar Achar, Uday Pratap Singh
Renal cell carcinoma accounts for 2%-3% of all malignancies in adults. It spreads via direct extension, lymphatic route as well as haematogenous route. Lymph nodes, lungs, bone, liver and brain are the usual sites for its metastatic spread. In the presence of limited metastatic disease with potentially resectable metastases, surgery offers the best chances of cure. In the present case, we describe a case of renal cell carcinoma with a solitary metastasis to the sigmoid mesentery in a patient with Von Hippel-Lindau syndrome...
September 15, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28900252/profiling-of-the-metabolic-transcriptome-via-single-molecule-molecular-inversion-probes
#4
Tessa de Bitter, Carlijn van de Water, Corina van den Heuvel, Carolien Zeelen, Astrid Eijkelenboom, Bastiaan Tops, Egbert Oosterwijk, Dimitar Kolev, Peter Mulders, Mark Ter Laan, Sanne van Lith, William Leenders
Cancer-specific metabolic alterations are of high interest as therapeutic targets. These alterations vary between tumor types, and to employ metabolic targeting to its fullest potential there is a need for robust methods that identify candidate targetable metabolic pathways in individual cancers. Currently, such methods include (13)C-tracing studies and mass spectrometry/ magnetic resonance spectroscopic imaging. Due to high cost and complexity, such studies are restricted to a research setting. We here present the validation of a novel technique of metabolic profiling, based on multiplex targeted next generation sequencing of RNA with single molecule molecular inversion probes (smMIPs), designed to measure activity of and mutations in genes that encode metabolic enzymes...
September 12, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28898190/renal-tumors-of-childhood-radiologic-pathologic-correlation-part-2-the-2nd-decade-from-the-radiologic-pathology-archives
#5
Ellen M Chung, Grant E Lattin, Kimberly E Fagen, Andrew M Kim, Michael A Pavio, Adam J Fehringer, Richard M Conran
Malignant renal tumors account for 7% of childhood cancers, and Wilms tumors are by far the most common-but not in older children and adolescents. Among individuals in the latter half of their 2nd decade of life, renal cell carcinoma (RCC) is more common than Wilms tumor. The histopathologic spectrum of RCCs in children differs from that in adults. The most common subtype of RCC in children and adolescents is Xp11.2 translocation RCC, which is distinguished by hyperattenuation at nonenhanced computed tomography, a defined capsule, and associated retroperitoneal lymphadenopathy...
September 2017: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/28893800/vhl-deficiency-drives-enhancer-activation-of-oncogenes-in-clear-cell-renal-cell-carcinoma
#6
Xiaosai Yao, Jing Tan, Kevin Junliang Lim, Joanna Koh, Wen Fong Ooi, Zhimei Li, Dachuan Huang, Manjie Xing, Yang Sun Chan, James Zhengzhong Qu, Su Ting Tay, Giovani Wijaya, Yue Ning Lam, Jing Han Hong, Ai Ping Lee-Lim, Peiyong Guan, Michelle Shu Wen Ng, Cassandra Zhengxuan He, Joyce Suling Lin, Tannistha Nandi, Aditi Qamra, Chang Xu, Swe Swe Myint, James O J Davies, Jian Yuan Goh, Gary Loh, Bryan C Tan, Steven G Rozen, Qiang Yu, Iain Bee Huat Tan, Christopher Wai Sam Cheng, Shang Li, Kenneth Tou En Chang, Puay Hoon Tan, David Lawrence Silver, Alexander Lezhava, Gertrud Steger, Jim R Hughes, Bin Tean Teh, Patrick Tan
Protein-coding mutations in clear cell renal cell carcinoma (ccRCC) have been extensively characterized, frequently involving inactivation of the von Hippel Lindau (VHL) tumor suppressor. Roles for non-coding cis-regulatory aberrations in ccRCC tumorigenesis, however, remain unclear. Analyzing 10 primary tumor/normal pairs and 9 cell lines across 79 chromatin profiles, we observed pervasive enhancer malfunction in ccRCC, with cognate enhancer-target genes associated with tissue-specific aspects of malignancy...
September 11, 2017: Cancer Discovery
https://www.readbyqxmd.com/read/28890865/functional-imaging-of-paragangliomas-with-an-emphasis-on-von-hippel-lindau-associated-disease-a-mini-review
#7
REVIEW
Ioannis Ilias, Georgios Meristoudis
Few reports have presented data and results on functional (i.e., nuclear medicine) imaging of paragangliomas and pheochromocytomas (PGLs/PHEOs) for von Hippel-Lindau (VHL) patients. Nuclear medicine localization modalities for chromaffin tumors can be specific or nonspecific. Specific methods make use of the expression of the human norepinephrine transporter (hNET) and vesicular monoamine transporters (VMATs) by these tumors. These permit the use of radiolabeled ligands that enter the synthesis and storage pathway of catecholamines...
2017: Journal of Kidney Cancer and VHL
https://www.readbyqxmd.com/read/28887784/pancreatic-neuroendocrine-tumor-in-a-patient-with-a-tsc1-variant-case-report-and-review-of-the-literature
#8
REVIEW
Parisa Mortaji, Katherine T Morris, Von Samedi, Steven Eberhardt, Shawnia Ryan
The majority of pancreatic neuroendocrine tumors (PNETs) are sporadic while 10-15% are attributable to one of several familial cancer syndromes. Hereditary forms are more commonly associated with Multiple Endocrine Neoplasia Type I and von Hippel Lindau Syndrome. However, patients with Tuberous sclerosis complex also have an increased incidence of PNETs. More often this has been reported in patients with TSC2 variants. In this case report, we summarize the literature regarding PNETs associated with Tuberous sclerosis complex, as well as present a case of a patient with a TSC1 variant and a PNET...
September 8, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28882614/triple-pancreatic-lesion-in-a-patient-with-von-hippel-lindau-disease
#9
Aylhin Joana López Marcano, José Manuel Ramia Ángel, Roberto de la Plaza Llamas, Farah Al-Swely, Alba Manuel Vázquez, Cristina García Amador, Antonio Candia
No abstract text is available yet for this article.
September 4, 2017: Gastroenterología y Hepatología
https://www.readbyqxmd.com/read/28875972/-gastroenterological-manifestations-of-von-hippel-lindau-disease-a-case-report
#10
Joanna Koniusz, Krzysztof Dąbkowski, Katarzyna Buczek, Aleksandra Gomółka, Teresa Starzyńska
Gastrointestinal organs are involved in the course of von Hippel Lindau disease. Typically pancreas in von Hippel Lindau syndrome is a site of cystic and solid tumors. Differential diagnosis of pancreatic lesions includes benign lesions (cysts, serous cystic adenomas), potentially malignant (neuroendocrine) and malignant tumors(metastases).In this work we present a patient with VHL syndrome with pancreatic cysts and neuroendocrine tumor.
August 21, 2017: Polski Merkuriusz Lekarski: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/28875969/-gastroenterological-manifestations-of-von-hippel-lindau-disease
#11
EDITORIAL
Joanna Koniusz, Krzysztof Dąbkowski, Katarzyna Buczek, Aleksandra Gomółka, Teresa Starzyńska
Von Hippel-Lindau disease is rare autosomal dominant disorder that results from mutation of VHL gene. Typical manifestations of this syndrome include haemangioblastomas of retina, cerebellum and spinal cord, endolymphatic sac tumors, clear cell cancer and kidney cysts, pheochromocytoma, pancreatic cysts and neuroendocrine tumors. The differential diagnosis of pancreatic lesions in patients with von Hippel Lindau syndrome plays an important role. The pancreas in VHL disease is not only site of benign lesions (cysts, serous systic adenomas) but also of potentially malignant (neuroendocrine) and malignant tumors(metastases)...
August 21, 2017: Polski Merkuriusz Lekarski: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/28875382/-tumors-of-the-inner-ear-and-adjacent-structures
#12
REVIEW
J Schittenhelm
Tumors of the inner ear and adjacent structures often present with hearing loss, tinnitus and vertigo due to compression of the traversing cranial nerves. More than 90% of the tumors of the inner ear with or without expansion into the cerebellopontine angle are histologically diagnosed as vestibular schwannomas. Less common tumorous lesions include ectopic meningiomas located in the petrous bone, glomus tympanicum paragangliomas or endolymphatic sac tumors (ELST) originating in the vestibular recess. Most tumors are sporadic, but hereditary disorders have to be considered...
September 5, 2017: Der Pathologe
https://www.readbyqxmd.com/read/28874972/microsurgical-treatment-of-sporadic-and-von-hippel-lindau-disease-associated-spinal-hemangioblastomas-a-single-institution-experience
#13
Joe M Das, Krishnakumar Kesavapisharady, Saravanan Sadasivam, Suresh Narayanan Nair
STUDY DESIGN: Retrospective cohort study. PURPOSE: To examine the clinical profile and surgical complications in patients with spinal hemangioblastomas and to evaluate the long-term outcome in them. OVERVIEW OF LITERATURE: Although considered to be histologically benign, hemangioblastomas may cause significant neurological deficits. The proportion of spinal hemangioblastomas associated with von Hippel-Lindau (VHL) disease has been estimated be 13%-59%...
August 2017: Asian Spine Journal
https://www.readbyqxmd.com/read/28874214/a-histopathological-connection-between-a-fatal-endolymphatic-sac-tumour-and-von-hippel-lindau-disease-from-1960
#14
J A Bellairs, M B Gluth
OBJECTIVE: To highlight a case from 1960 connecting endolymphatic sac tumour and von Hippel-Lindau disease. CASE REPORT: In 1960, a 24-year-old woman presented with unilateral hearing loss, pulsatile tinnitus and a mass visible on otoscopy. The patient underwent surgical biopsy, which was complicated by haemorrhage, and ultimately resulted in death. At autopsy, a destructive temporal bone neoplasm with cystic and papillary architecture was observed that had eroded into the otic capsule...
September 6, 2017: Journal of Laryngology and Otology
https://www.readbyqxmd.com/read/28868236/management-strategies-and-outcomes-for-vhl-related-craniospinal-hemangioblastomas
#15
REVIEW
Christ Ordookhanian, Paul E Kaloostian, Samer S Ghostine, Philippe E Spiess, Arnold B Etame
Hemangioblastomas are rare and benign tumors accounting for less than 2% of all central nervous system (CNS) tumors. The vast majority of hemangioblastomas occur sporadically, whereas a small number of cases, especially in younger patients, are associated with Von Hippel-Lindau (VHL) syndrome. It is thought that loss of tumor suppressor function of the VHL gene results in stabilization of hypoxia-inducible factor alpha with downstream activation of cellular proliferative and angiogenic genes that promote tumorigenesis...
2017: Journal of Kidney Cancer and VHL
https://www.readbyqxmd.com/read/28866246/radiofrequency-ablation-for-renal-cancer-in-von-hippel-lindau-syndrome-patients-a-prospective-cohort-analysis
#16
Marco Allasia, Francesco Soria, Antonino Battaglia, Carlo Gazzera, Marco Calandri, Mirko Parasiliti Caprino, Barbara Lucatello, Andrea Velrti, Mario Maccario, Barbara Pasini, Andrea Bosio, Paolo Gontero, Paolo Destefanis
INTRODUCTION: Management of renal-cell carcinoma (RCC) in patients with Von Hippel-Lindau syndrome (VHL) represents a clinical dilemma: the oncologic outcomes must be weighed against preservation of renal function. Radiofrequency ablation (RFA) is currently used in selected cases for treatment of small-size RCC. The aim of this study was to evaluate the safety, complications, and functional and oncologic outcomes of RFA in the treatment of RCC in VHL patients. PATIENTS AND METHODS: RCCs were treated with ultrasound-guided RFA or with laparoscopic RFA...
August 10, 2017: Clinical Genitourinary Cancer
https://www.readbyqxmd.com/read/28856247/quantitative-image-quality-comparison-of-reduced-and-standard-dose-dual-energy-multiphase-chest-abdomen-and-pelvis-ct
#17
Mario Buty, Ziyue Xu, Aaron Wu, Mingchen Gao, Chelyse Nelson, Georgios Z Papadakis, Uygar Teomete, Haydar Celik, Baris Turkbey, Peter Choyke, Daniel J Mollura, Ulas Bagci, Les R Folio
We present a new image quality assessment method for determining whether reducing radiation dose impairs the image quality of computed tomography (CT) in qualitative and quantitative clinical analyses tasks. In this Institutional Review Board-exempt study, we conducted a review of 50 patients (male, 22; female, 28) who underwent reduced-dose CT scanning on the first follow-up after standard-dose multiphase CT scanning. Scans were for surveillance of von Hippel-Lindau disease (N = 26) and renal cell carcinoma (N = 10)...
June 2017: Tomography: a Journal for Imaging Research
https://www.readbyqxmd.com/read/28855235/evaluation-of-a-novel-germline-tmem127-mutation-in-an-uncommon-presentation
#18
Yilun Deng, Shahida K Flores, Zi-Ming Cheng, Yuejuan Qin, Robin C Schwartz, Carl D Malchoff, Patricia Dahia
Germline mutations of the endomembrane-encoding gene TMEM127 confers susceptibility to neural crest-derived tumors pheochromocytomas (PHEOs) and have also been found in isolated renal cell carcinomas (RCCs). PHEOs and RCCs can arise as a result of shared inherited susceptibility, as in von Hippel Lindau disease and in PHEO-paraganglioma syndromes related to mutations in succinate dehydrogenase (SDH) subunit genes. The clinical spectrum and the signaling consequences of TMEM127 mutations remain poorly defined and it is not clear whether both tumors can be associated in families...
August 30, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28853884/group-based-optimization-of-potent-and-cell-active-inhibitors-of-the-von-hippel-lindau-vhl-e3-ubiquitin-ligase-structure-activity-relationships-leading-to-the-chemical-probe-2s-4r-1-s-2-1-cyanocyclopropanecarboxamido-3-3-dimethylbutanoyl-4-hydroxy-n-4-4-methylthiazol
#19
Pedro Soares, Morgan S Gadd, Julianty Frost, Carles Galdeano, Lucy C J Ellis, Ola Epemolu, Sonia Rocha, Kevin D Read, Alessio Ciulli
The von Hippel-Lindau tumor suppressor protein is the substrate binding subunit of the VHL E3 ubiquitin ligase, which targets hydroxylated α subunit of hypoxia inducible factors (HIFs) for ubiquitination and subsequent proteasomal degradation. VHL is a potential target for treating anemia and ischemic diseases, motivating the development of inhibitors of the VHL:HIF-α protein-protein interaction. Additionally, bifunctional proteolysis targeting chimeras (PROTACs) containing a VHL ligand can hijack the E3 ligase activity to induce degradation of target proteins...
August 30, 2017: Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/28851829/glucocorticoids-promote-von-hippel-lindau-degradation-and-hif-1%C3%AE-stabilization
#20
Andrea Vettori, David Greenald, Garrick K Wilson, Margherita Peron, Nicola Facchinello, Eleanor Markham, Mathavan Sinnakaruppan, Laura C Matthews, Jane A McKeating, Francesco Argenton, Fredericus J M van Eeden
Glucocorticoid (GC) and hypoxic transcriptional responses play a central role in tissue homeostasis and regulate the cellular response to stress and inflammation, highlighting the potential for cross-talk between these two signaling pathways. We present results from an unbiased in vivo chemical screen in zebrafish that identifies GCs as activators of hypoxia-inducible factors (HIFs) in the liver. GCs activated consensus hypoxia response element (HRE) reporters in a glucocorticoid receptor (GR)-dependent manner...
August 29, 2017: Proceedings of the National Academy of Sciences of the United States of America
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