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von hippel lindau

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https://www.readbyqxmd.com/read/29342457/the-von-hippel-lindau-gene-is-required-to-maintain-renal-proximal-tubule-and-glomerulus-integrity-in-zebrafish-larvae
#1
Ellen van Rooijen, Glenn van de Hoek, Ive Logister, Henry Ajzenberg, Nine V A M Knoers, Freek van Eeden, Emile E Voest, Stefan Schulte-Merker, Rachel H Giles
BACKGROUND: von Hippel-Lindau (VHL) disease is characterized by the development of benign and malignant tumours in many organ systems, including renal cysts and clear cell renal cell carcinoma. It is not completely understood what underlies the development of renal pathology, and the use of murine Vhl models has been challenging due to limitations in disease conservation. We previously described a zebrafish model bearing inactivating mutations in the orthologue of the human VHL gene. METHODS: We used histopathological and functional assays to investigate the pronephric and glomerular developmental defects in vhl mutant zebrafish, supported by human cell culture assays...
January 17, 2018: Nephron
https://www.readbyqxmd.com/read/29341163/extent-of-surgery-for-phaeochromocytomas-in-the-genomic-era
#2
REVIEW
H M Rossitti, P Söderkvist, O Gimm
BACKGROUND: Germline mutations are present in 20-30 per cent of patients with phaeochromocytoma. For patients who develop bilateral disease, complete removal of both adrenal glands (total adrenalectomy) will result in lifelong adrenal insufficiency with an increased risk of death from adrenal crisis. Unilateral/bilateral adrenal-sparing surgery (subtotal adrenalectomy) offers preservation of cortical function and independence from steroids, but leaves the adrenal medulla in situ and thus at risk of developing new and possibly malignant disease...
January 2018: British Journal of Surgery
https://www.readbyqxmd.com/read/29340905/expression-of-vhl-tumor-suppressor-mrna-and-mir-92a-in-papillary-thyroid-carcinoma-and-their-correlation-with-clinical-and-pathological-parameters
#3
Lidija Todorović, Boban Stanojević, Vesna Mandušić, Nina Petrović, Vladan Živaljević, Ivan Paunović, Aleksandar Diklić, Vladimir Saenko, Shunichi Yamashita
A growing body of evidence suggests a role of the von Hippel-Lindau (VHL) tumor suppressor gene in the progression of papillary thyroid carcinoma (PTC). Our previous study of VHL in PTCs showed that lower VHL expression was associated with aggressive tumor features, but we found no evidence for VHL downregulation through common genetic or epigenetic modifications. Several studies pointed to a role of microRNA-92a (miR-92a) in the regulation of VHL expression in different cancers. In the present study, we examined the expression levels of VHL mRNA and miR-92a in 42 pairs of PTCs and matched non-tumor thyroid tissues by means of quantitative RT-PCR...
January 16, 2018: Medical Oncology
https://www.readbyqxmd.com/read/29334302/mirnas-as-potential-regulators-of-mtor-pathway-in-renal-cell-carcinoma
#4
Inês Nogueira, Francisca Dias, Ana Luísa Teixeira, Rui Medeiros
Renal cell carcinoma (RCC) is the most commonly occurring solid cancer of the adult kidney with the majority of RCC cases being detected accidentally. The most aggressive subtype is clear cell RCC (ccRCC). miRNAs, a family of small noncoding RNAs regulating gene expression have been identified as key biological modulators. The von Hippel-Lindau pathway is one of the signaling pathways involved in the pathophysiology of ccRCC. Another oncogenic mechanism involves the activation of PI3K/AKT/mTOR signaling and serves as a central regulator of cell metabolism, proliferation and survival...
January 15, 2018: Pharmacogenomics
https://www.readbyqxmd.com/read/29330717/posterior-retroperitoneoscopic-resection-of-extra-adrenal-paraganglioma-located-in-the-aorto-caval-space
#5
Sang-Wook Kang, Emad Kandil, Min Jhi Kim, Kwang Soon Kim, Cho Rok Lee, Jong Ju Jeong, Kee-Hyun Nam, Woong Youn Chung, Cheong Soo Park
BACKGROUND: The posterior retroperitoneoscopic adrenalec tomy has several advantages compared with the transperitoneal approach such as a shorter and more direct route to the target organ, no breach of the intraperitoneal space, and no required retraction of the adjacent organs. It also is a safe procedure with a short learning curve.1-5 This report presents a challenging case of an extra-adrenal paraganglioma located in the aorto-caval space and managed using the retroperitoneal approach...
January 12, 2018: Annals of Surgical Oncology
https://www.readbyqxmd.com/read/29330336/risk-factors-for-survival-in-patients-with-von-hippel-lindau-disease
#6
Jiang-Yi Wang, Shuang-He Peng, Teng Li, Xiang-Hui Ning, Sheng-Jie Liu, Bao-An Hong, Jia-Yuan Liu, Peng-Jie Wu, Bo-Wen Zhou, Jing-Cheng Zhou, Nie-Nie Qi, Xiang Peng, Jiu-Feng Zhang, Kai-Fang Ma, Lin Cai, Kan Gong
BACKGROUND: Historically, von Hippel-Lindau (VHL) disease is characterised by a poor survival. Although genotype-phenotype correlation has been described in many studies, the risk factors for VHL survival remain unclear. This study aims to evaluate the median survival of Chinese patients with VHL disease and explore whether VHL survival is influenced by genetic and clinical factors. METHODS: In this retrospective study, we recruited 340 patients from 127 VHL families...
January 12, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29325224/hereditary-kidney-cancer-syndromes-genetic-disorders-driven-by-alterations-in-metabolism-and-epigenome-regulation
#7
Hisashi Hasumi, Masahiro Yao
Although hereditary kidney cancer syndrome accounts for around five percent of all kidney cancers, the mechanistic insight into tumor development in these rare conditions has provided the foundation for the development of molecular targeting agents currently used for sporadic kidney cancer. In the late 1980s, the comprehensive study for hereditary kidney cancer syndrome was launched in the National Cancer Institute, U.S.A. and the first kidney cancer associated gene, VHL was identified through kindred analysis of von Hippel-Lindau syndrome in 1993...
January 11, 2018: Cancer Science
https://www.readbyqxmd.com/read/29317756/non-coding-rnas-predict-recurrence-free-survival-of-patients-with-hypoxic-tumours
#8
Victor D Martinez, Natalie S Firmino, Erin A Marshall, Kevin W Ng, Brennan J Wadsworth, Christine Anderson, Wan L Lam, Kevin L Bennewith
Hypoxia promotes tumour aggressiveness and reduces patient survival. A spectrum of poor outcome among patients with hypoxic tumours suggests that additional factors modulate how tumours respond to hypoxia. PIWI-interacting RNAs (piRNAs) are small non-coding RNAs with a pivotal role in genomic stability and epigenetic regulation of gene expression. We reported that cancer type-specific piRNA signatures vary among patients. However, remarkably homogenous piRNA profiles are detected across patients with renal cell carcinoma, a cancer characterized by constitutive upregulation of hypoxia-related signaling induced by common mutation or loss of von Hippel-Lindau factor (VHL)...
January 9, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29312473/central-nervous-system-gadolinium-accumulation-in-patients-undergoing-periodical-contrast-mri-screening-for-hereditary-tumor-syndromes
#9
Evelynn Vergauwen, Anne-Marie Vanbinst, Carola Brussaard, Peter Janssens, Dieter De Clerck, Michel Van Lint, Anne C Houtman, Olaf Michel, Kathelijn Keymolen, Bieke Lefevere, Susanne Bohler, Dirk Michielsen, Anna C Jansen, Vera Van Velthoven, Sven Gläsker
Background: Patients with hereditary tumor syndromes undergo periodical magnetic resonance imaging (MRI) screening with Gadolinium contrast. Gadolinium accumulation has recently been described in the central nervous system after repeated administrations. The prevalence and rate of accumulation in different subgroups of patients are unknown. Neither are the mechanism nor clinical impact. This may cause uncertainty about the screening. To explore the prevalence and rate of Gadolinium accumulation in different subgroups, we retrospectively analyzed MRIs of patients with von Hippel-Lindau disease (VHL) and Tuberous Sclerosis Complex (TSC)...
2018: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/29301791/deletion-of-the-von-hippel-lindau-gene-in-hemangioblasts-causes-hemangioblastoma-like-lesions-in-murine-retina
#10
Herui Wang, Matthew Shepard, Chao Zhang, Lijin Dong, Dyvon T Walker, Liliana Guedez, Stanley Park, Yujuan Wang, Shida Chen, Ying Pang, Qi Zhang, Chun Gao, Wai T Wong, Henry Wiley, Karel Pacak, Emily Y Chew, Zhengping Zhuang, Chi-Chao Chan
von Hippel-Lindau (VHL) disease is an autosomal dominant tumor predisposition syndrome characterized by the development of highly vascularized tumors and cysts. Loss of heterozygosity (LOH) of the VHL gene results in aberrant upregulation of hypoxia-inducible factors (HIF) and has been associated with tumor formation. Hemangioblastomas of the central nervous system and retina represent the most prevalent VHL-associated tumors, but no VHL animal model has reproduced retinal capillary hemangioblastomas (RCH), the hallmark lesion of ocular VHL...
January 4, 2018: Cancer Research
https://www.readbyqxmd.com/read/29299088/sporadic-hemangioblastoma-arising-from-the-infundibulum
#11
Michael N Pakdaman, Matthew J Austin, Serguei Bannykh, Barry D Pressman
Hemangioblastomas are rare vascular tumors most often found in the posterior fossa and cervical spinal cord and commonly associated with von Hippel-Lindau Disease. We report a case of sporadic hemangioblastoma in a patient without von Hippel-Lindau Disease. Imaging characteristics included a solid, suprasellar mass that was homogeneously enhancing. These findings most resembled a pituicytoma or choroid glioma because of the close association with the infundibulum and the homogeneous avid enhancement. Microscopically, the neoplasm was seen to be composed of vascular channels associated with foamy stromal cells, containing clear cytoplasmic vacuoles...
May 2017: Journal of Radiology Case Reports
https://www.readbyqxmd.com/read/29295567/minoxidil-induction-of-vegf-is-mediated-by-inhibition-of-hif-prolyl-hydroxylase
#12
Soohwan Yum, Seongkeun Jeong, Dohoon Kim, Sunyoung Lee, Wooseong Kim, Jin-Wook Yoo, Jung-Ae Kim, Oh Sang Kwon, Dae-Duk Kim, Do Sik Min, Yunjin Jung
The topical application of minoxidil may achieve millimolar concentrations in the skin. We investigated whether millimolar minoxidil could induce vascular endothelial growth factor (VEGF), a possible effector for minoxidil-mediated hair growth, and how it occurred at the molecular level. Cell-based experiments were performed to investigate a molecular mechanism underlying the millimolar minoxidil induction of VEGF. The inhibitory effect of minoxidil on hypoxia-inducible factor (HIF) prolyl hydroxylase-2 (PHD-2) was tested by an in vitro von Hippel-Lindau protein (VHL) binding assay...
December 25, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29291011/transferrin-receptor-1-upregulation-in-primary-tumor-and-downregulation-in-benign-kidney-is-associated-with-progression-and-mortality-in-renal-cell-carcinoma-patients
#13
Christopher J Greene, Kristopher Attwood, Nitika J Sharma, Kenneth W Gross, Gary J Smith, Bo Xu, Eric C Kauffman
The central dysregulated pathway of clear cell (cc) renal cell carcinoma (RCC), the von Hippel Lindau/hypoxia inducible factor-α axis, is a key regulator of intracellular iron levels, however the role of iron uptake in human RCC tumorigenesis and progression remains unknown. We conducted a thorough, large-scale investigation of the expression and prognostic significance of the primary iron uptake protein, transferrin receptor 1 (TfR1/CD71/TFRC), in RCC patients. TfR1 immunohistochemistry was performed in over 1500 cores from 574 renal cell tumor patient tissues (primary tumors, matched benign kidneys, metastases) and non-neoplastic tissues from 36 different body sites...
December 5, 2017: Oncotarget
https://www.readbyqxmd.com/read/29290462/-retinal-hemangioblastoma-treatment-strategy-and-long-term-follow-up-in-a-retrospective-cohort
#14
A Lefevre, T Mathis, P Denis, L Kodjikian
INTRODUCTION: Retinal hemangioblastoma (RH) is a benign vascular tumor frequently associated with Von Hippel-Lindau disease (VHL). Tumor growth of RH may lead to deterioration of visual acuity, which can be difficult to treat. Early diagnosis may reduce complication rate and side effects of treatment. The present retrospective study evaluates the long-term follow-up and complications of RH treatment as a function of the therapeutic strategy used. MATERIALS AND METHODS: The study included patients with RH, followed at Croix Rousse university hospital, Lyon between 2010 and 2017...
December 28, 2017: Journal Français D'ophtalmologie
https://www.readbyqxmd.com/read/29279301/inositol-polyphosphate-multikinase-inhibits-angiogenesis-via-inositol-pentakisphosphate-induced-hif-1%C3%AE-degradation
#15
Chenglai Fu, Richa Tyagi, Alfred C Chin, Tomas Rojas, Ruo-Jing Li, Prasun Guha, Isaac A Bernstein, Feng Rao, Risheng Xu, Jiyoung Y Cha, Jing Xu, Adele M Snowman, Gregg L Semenza, Solomon H Snyder
Rationale: Inositol polyphosphate multikinase (IPMK) and its major product inositol pentakisphosphate (IP5) regulate a variety of cellular functions, but their role in vascular biology remains unexplored. Objective: We have investigated the role of IPMK in regulating angiogenesis. Methods and Results: Deletion of IPMK in fibroblasts induces angiogenesis in both in vitro and in vivo models. IPMK deletion elicits a substantial increase of vascular endothelial growth factor (VEGF), which mediates the regulation of angiogenesis by IPMK...
December 26, 2017: Circulation Research
https://www.readbyqxmd.com/read/29245961/proteome-profiling-of-clear-cell-renal-cell-carcinoma-in-von-hippel-lindau-patients-highlights-upregulation-of-xaa-pro-aminopeptidase-1-an-anti-proliferative-and-anti-migratory-exoprotease
#16
Vanessa Drendel, Bianca Heckelmann, Chia-Yi Chen, Juliane Weisser, Guadalupe Espadas, Christoph Schell, Eduard Sabido, Martin Werner, Cordula A Jilg, Oliver Schilling
Patients of the von Hippel-Lindau (VHL) disease frequently develop clear cell renal cell carcinoma (ccRCC). Using archived, formalin-fixed, paraffin-embedded (FFPE) samples, we sought to determine global proteome alterations that distinguish ccRCC tissue from adjacent, non-malignant kidney tissue in VHL-patients. Our quantitative proteomic analysis clearly discriminated tumor and non-malignant tissue. Significantly dysregulated proteins were distinguished using the linear models for microarray data algorithm...
November 21, 2017: Oncotarget
https://www.readbyqxmd.com/read/29241538/an-elongin-cullin-socs-box-complex-regulates-stress-induced-serotonergic-neuromodulation
#17
Xicotencatl Gracida, Michael F Dion, Gareth Harris, Yun Zhang, John A Calarco
Neuromodulatory cells transduce environmental information into long-lasting behavioral responses. However, the mechanisms governing how neuronal cells influence behavioral plasticity are difficult to characterize. Here, we adapted the translating ribosome affinity purification (TRAP) approach in C. elegans to profile ribosome-associated mRNAs from three major tissues and the neuromodulatory dopaminergic and serotonergic cells. We identified elc-2, an Elongin C ortholog, specifically expressed in stress-sensing amphid neuron dual ciliated sensory ending (ADF) serotonergic sensory neurons, and we found that it plays a role in mediating a long-lasting change in serotonin-dependent feeding behavior induced by heat stress...
December 12, 2017: Cell Reports
https://www.readbyqxmd.com/read/29239102/serpinh1-overexpression-in-clear-cell-renal-cell-carcinoma-association-with-poor-clinical-outcome-and-its-potential-as-a-novel-prognostic-marker
#18
Yijun Qi, Yue Zhang, Zhiqiang Peng, Lei Wang, Kaizhen Wang, Duiping Feng, Junqi He, Junfang Zheng
Precision therapy for clear cell renal cell carcinoma (ccRCC) requires molecular biomarkers ascertaining disease prognosis. In this study, we performed integrated proteomic and transcriptomic screening in all four tumour-node-metastasis stages of ccRCC and adjacent normal tissues (n = 18) to investigate differentially expressed genes. Most identified differentially expressed genes revealed a strong association with transforming growth factor-β level and the epithelial-to-mesenchymal transition process. Of them, Serpin peptidase inhibitor clade H member 1 (SERPINH1) revealed the strongest association with poor prognosis and regulation on the expression levels of epithelial-to-mesenchymal transition markers...
December 14, 2017: Journal of Cellular and Molecular Medicine
https://www.readbyqxmd.com/read/29229903/loss-of-pbrm1-rescues-vhl-dependent-replication-stress-to-promote-renal-carcinogenesis
#19
Judit Espana-Agusti, Anne Warren, Su Kit Chew, David J Adams, Athena Matakidou
Inactivation of the VHL (Von Hippel Lindau) tumour suppressor has long been recognised as necessary for the pathogenesis of clear cell renal cancer (ccRCC); however, the molecular mechanisms underlying transformation and the requirement for additional genetic hits remain unclear. Here, we show that loss of VHL alone results in DNA replication stress and damage accumulation, effects that constrain cellular growth and transformation. By contrast, concomitant loss of the chromatin remodelling factor PBRM1 (mutated in 40% of ccRCC) rescues VHL-induced replication stress, maintaining cellular fitness and allowing proliferation...
December 11, 2017: Nature Communications
https://www.readbyqxmd.com/read/29229339/hemangioblastomas-of-the-posterior-cranial-fossa-in-adults-demographics-clinical-morphological-pathological-surgical-features-and-outcomes-a-systematic-review
#20
Marin Kuharic, Dragan Jankovic, Bruno Splavski, Frederick A Boop, Kenan I Arnautovic
BACKGROUND: Posterior cranial fossa (PCF) hemangioblastomas are benign, highly vascularized, and well-differentiated tumors with well-described histopathologic features. Although relatively rare, this tumor is the most prevalent primary tumor of the cerebellum in adults. OBJECTIVE: Since the demographics of patients with such a tumor-as well as the clinical, morphological, pathological, surgical features, and outcomes-are not fully understood, we systematized characteristic patient and tumor features...
December 8, 2017: World Neurosurgery
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