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https://www.readbyqxmd.com/read/29165437/endolymphatic-sac-tumour-in-von-hippel-lindau-disease-management-strategies
#1
E Zanoletti, L Girasoli, D Borsetto, G Opocher, A Mazzoni, A Martini
Endolymphatic sac tumour (ELST) is infrequent, as emerges from small series reported in the literature. It is a slow-growing malignancy with local aggressiveness and a low risk of distant metastases. It is often misdiagnosed because of the late onset of symptoms and difficulty in obtaining a biopsy. Its frequency is higher in von Hippel-Lindau (VHL) disease (a genetic systemic syndrome involving multiple tumours), with a prevalence of around 25%. The diagnosis is based on radiology, with specific patterns on contrast-enhanced MRI and typical petrous bone erosion on bone CT scan...
October 2017: Acta Otorhinolaryngologica Italica
https://www.readbyqxmd.com/read/29165391/micrornas-associated-with-von-hippel-lindau-pathway-in-renal-cell-carcinoma-a-comprehensive-review
#2
REVIEW
Lisa-Maria Schanza, Maximilian Seles, Michael Stotz, Johannes Fosselteder, Georg C Hutterer, Martin Pichler, Verena Stiegelbauer
Renal cell carcinoma (RCC) are the most common renal neoplasia and can be divided into three main histologic subtypes, among which clear cell RCC is by far the most common form of kidney cancer. Despite substantial advances over the last decade in the understanding of RCC biology, surgical treatments, and targeted and immuno-therapies in the metastatic setting, the prognosis for advanced RCC patients remains poor. One of the major problems with RCC treatment strategies is inherent or acquired resistance towards therapeutic agents over time...
November 22, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29155844/hypoxia-and-hypoxia-inducible-factor-hif-downregulate-antigen-presenting-mhc-class-i-molecules-limiting-tumor-cell-recognition-by-t-cells
#3
Shalini Sethumadhavan, Murillo Silva, Phaethon Philbrook, Thao Nguyen, Stephen M Hatfield, Akio Ohta, Michail V Sitkovsky
Human cancers are known to downregulate Major Histocompatibility Complex (MHC) class I expression thereby escaping recognition and rejection by anti-tumor T cells. Here we report that oxygen tension in the tumor microenvironment (TME) serves as an extrinsic cue that regulates antigen presentation by MHC class I molecules. In support of this view, hypoxia is shown to negatively regulate MHC expression in a HIF-dependent manner as evidenced by (i) lower MHC expression in the hypoxic TME in vivo and in hypoxic 3-dimensional (3D) but not 2-dimensional (2D) tumor cell cultures in vitro; (ii) decreased MHC in human renal cell carcinomas with constitutive expression of HIF due to genetic loss of von Hippel-Lindau (VHL) function as compared with isogenically paired cells with restored VHL function, and iii) increased MHC in tumor cells with siRNA-mediated knockdown of HIF...
2017: PloS One
https://www.readbyqxmd.com/read/29154985/adolescent-hydrocele-carrying-a-surprise-a-case-of-papillary-cystadenoma-of-the-epididymis
#4
A Soria Gondek, V Julià Masip, C Jou Muñoz, H Salvador Hernández, C Rovira Zurriaga, X Tarrado Castellarnau
Papillary cystadenoma of the epididymis (PCE) is a rare benign epithelial tumor remarkable for its association with Von Hippel-Lindau disease (VHLD). A 12-year-old male consulted for a progressive enlargement of the left testicle. At time of surgery, the whole epididymis was enlarged. Pathological diagnosis was PCE with a focus of borderline malignancy. Scrotal left epididymectomy was performed. VHLD screening was negative. No relapse has been detected two years later. In case of atypical clinical examination of a hydrocele, unusual presentations such as PCE should be considered...
November 15, 2017: Urology
https://www.readbyqxmd.com/read/29149451/transcriptional-alterations-in-hereditary-and-sporadic-nonfunctioning-pancreatic-neuroendocrine-tumors-according-to-genotype
#5
Xavier M Keutgen, Suresh Kumar, Sudheer Gara, Myriem Boufraqech, Sunita Agarwal, Ralph H Hruban, Naris Nilubol, Martha Quezado, Richard Finney, Maggie Cam, Electron Kebebew
BACKGROUND: Nonfunctioning pancreatic neuroendocrine tumors (NFPanNETs) may be sporadic or inherited because of germline mutations associated with von Hippel-Lindau disease (VHL) or multiple endocrine neoplasia type 1 (MEN1). The clinical behavior of NFPanNETs is difficult to predict, even in tumors of the same stage and grade. The authors analyzed genotype-specific patterns of transcriptional messenger RNA (mRNA) levels of NFPanNETs to understand the molecular features that determine PanNET phenotype...
November 17, 2017: Cancer
https://www.readbyqxmd.com/read/29146893/von-hippel-lindau-disease-with-multi-organ-involvement-a-case-report-and-8-year-clinical-course-with-follow-up
#6
Ali Yaghobi Joybari, Payam Azadeh
BACKGROUND Von Hippel-Lindau (VHL) disease is a rare autosomal dominant syndrome manifested by a spectrum of benign and malignant tumors.  CASE REPORT The patient presented here was a 31-year-old female with unremarkable family history who presented initially complaining of intermittent abdominal pain. Abdominal CT scan revealed an inhomogeneous solid mass (13×9×7 cm) originating from the tail of the pancreas with splenic and gastric invasion as well as several pancreatic cysts. A nucleotide scan showed left adrenal involvement...
November 17, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/29144820/pheochromocytoma-a-genetic-and-diagnostic-update
#7
Leilani B Mercado-Asis, Katherine I Wolf, Ivana Jochmanova, David Taïeb
OBJECTIVE: Pheochromocytomas and paragangliomas (PPGLs) are neuroendocrine tumors derived from adrenal or extra-adrenal locations, respectively. Upon suspicion of PPGL, specific metabolomic, molecular, biochemical, imaging, and histopathological studies are performed to prove, localize, treat, and monitor disease progression. Recently, improved diagnostic tools allow physicians to accurately diagnose PPGL, even in patients presenting with small (less than 1 cm) or biochemically silent tumors, which previously delayed proper detection and treatment...
November 16, 2017: Endocrine Practice
https://www.readbyqxmd.com/read/29141220/phosphorylation-and-ubiquitination-regulate-protein-phosphatase-5-activity-and-its-prosurvival-role-in-kidney-cancer
#8
Natela Dushukyan, Diana M Dunn, Rebecca A Sager, Mark R Woodford, David R Loiselle, Michael Daneshvar, Alexander J Baker-Williams, John D Chisholm, Andrew W Truman, Cara K Vaughan, Timothy A Haystead, Gennady Bratslavsky, Dimitra Bourboulia, Mehdi Mollapour
The serine/threonine protein phosphatase 5 (PP5) regulates multiple cellular signaling networks. A number of cellular factors, including heat shock protein 90 (Hsp90), promote the activation of PP5. However, it is unclear whether post-translational modifications also influence PP5 phosphatase activity. Here, we show an "on/off switch" mechanism for PP5 regulation. The casein kinase 1δ (CK1δ) phosphorylates T362 in the catalytic domain of PP5, which activates and enhances phosphatase activity independent of Hsp90...
November 14, 2017: Cell Reports
https://www.readbyqxmd.com/read/29134361/sonic-hedgehog-agonist-protects-against-complex-neonatal-cerebellar-injury
#9
Vien Nguyen, Khalida Sabeur, Emin Maltepe, Kurosh Ameri, Omer Bayraktar, David H Rowitch
The cerebellum undergoes rapid growth during the third trimester and is vulnerable to injury and deficient growth in infants born prematurely. Factors associated with preterm cerebellar hypoplasia include chronic lung disease and postnatal glucocorticoid administration. We modeled chronic hypoxemia and glucocorticoid administration in neonatal mice to study whole cerebellar and cell type-specific effects of dual exposure. Chronic neonatal hypoxia resulted in permanent cerebellar hypoplasia. This was compounded by administration of prednisolone as shown by greater volume loss and Purkinje cell death...
November 13, 2017: Cerebellum
https://www.readbyqxmd.com/read/29124493/genotype-phenotype-correlation-in-asian-indian-von-hippel-lindau-vhl-syndrome-patients-with-pheochromocytoma-paraganglioma
#10
Nilesh Lomte, Sanjeet Kumar, Vijaya Sarathi, Reshma Pandit, Manjunath Goroshi, Swati Jadhav, Anurag R Lila, Tushar Bandgar, Nalini S Shah
The data in genotype-phenotype correlation in Indian von Hippel-Lindau (VHL) patients is limited. We have retrospectively studied 31 genetically proven VHL patients with pheochromocytoma/paraganglioma (PCC/PGL) from families and have reviewed the World literature on PCC/PGL in patients with large VHL deletions. Three patients had large deletions and 28 patients had other mutations [missense mutations in 25, 3 bp deletion in 2 and single bp duplication in one]. Unilateral PCC were significantly more common in patients with large VHL deletions whereas multiple PCC (bilateral PCC or PCC + sympathetic PGL) were significantly more common in those with other mutations...
November 9, 2017: Familial Cancer
https://www.readbyqxmd.com/read/29117921/intralabyrinthine-sporadic-endolymphatic-sac-tumour
#11
C Lucas, J-C Leclère, E Mornet, R Marianowski
INTRODUCTION: Endolymphatic sac tumours are benign, slowly growing tumours that invade the temporal bone, and present clinically in the form of unilateral hearing loss. They can be sporadic or occur in the context of Von Hippel-Lindau disease (VHL). CASE SUMMARY: The authors report a case of endolymphatic sac tumour arising in the utricle presenting histological and immunohistochemical features corresponding to endolymphatic sac tumour in a patient without VHL. DISCUSSION: Endolymphatic sac tumours invade the posterior part of the petrous temporal bone...
November 5, 2017: European Annals of Otorhinolaryngology, Head and Neck Diseases
https://www.readbyqxmd.com/read/29116484/suppression-of-glioblastoma-growth-and-angiogenesis-through-molecular-targeting-of-methionine-aminopeptidase-2
#12
Ming Lin, Xuyu Zhang, Bingjie Jia, Su Guan
Methionine aminopeptidases (MetAPs) have been pharmacologically linked to cell growth, angiogenesis, and tumor progression, which make it an attractive target for cancer therapy. We investigated MetAP2's biological role in glioblastoma (GBM), an aggressive tumor characterized by massive neovascularization. We examined the effect of anti-MetAP2 RNA interference on proliferation and angiogenesis in GBM cell line. The biological effects of MetAP2 knockdown were assessed by comparing the proliferation, tumorigenecity, and angiogenesis of parental cells and MetAP2 knockdown cells...
November 8, 2017: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/29113209/prognostic-value-of-copper-transporter-1-expression-in-patients-with-clear-cell-renal-cell-carcinoma
#13
Yu Xia, Li Liu, Qi Bai, Qilai Long, Jiajun Wang, Wei Xi, Jiejie Xu, Jianming Guo
Clear cell renal cell carcinoma (ccRCC) features a Von Hippel-Lindau mutation, associated with a hypoxia-inducible factor (HIF) imbalance. Copper transporter 1 (CTR1) may also promote tumor progression through the modulation of the HIF pathway by copper. Therefore, the present study explored the prognostic effect of tumor CTR1 expression in patients with ccRCC. A total of 293 patients with ccRCC that underwent nephrectomy were retrospectively enrolled. CTR1 expression was assessed by immunohistochemistry, and its association with clinicopathological features and prognosis were evaluated...
November 2017: Oncology Letters
https://www.readbyqxmd.com/read/29107720/sporadic-intradural-extramedullary-hemangioblastoma-of-the-cauda-equina-case-report-and-literature-review
#14
Douglas Blaty, Michael Malos, Thomas Palmrose, Stephen McGirr
BACKGROUND: The purpose of this case report is to present a rare finding of an intradural extramedullary hemangioblastoma of the cauda equina, with literature review. Spinal hemangioblastomas account for 1-5% of all spinal cord tumors. While spinal hemangioblastomas are rare, it is exceedingly rare to have a case of intradural extramedullary hemangioblastoma of the spine, especially in isolation without von-Hippel-Lindau syndrome. Only 20 previous cases have been reported. CASE DESCRIPTION: An 82-year-old male presented with MRI evidence of an intradural mass at the L4 spinal level...
October 28, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/29100286/the-pvhl172-isoform-is-not-a-tumor-suppressor-and-up-regulates-a-subset-of-pro-tumorigenic-genes-including-tgfb1-and-mmp13
#15
Pauline Hascoet, Franck Chesnel, Florence Jouan, Cathy Le Goff, Anne Couturier, Eric Darrigrand, Fabrice Mahe, Nathalie Rioux-Leclercq, Xavier Le Goff, Yannick Arlot-Bonnemains
The von Hippel-Lindau (VHL) tumor suppressor gene is often deleted or mutated in ccRCC (clear cell renal cell carcinoma) producing a non-functional protein. The gene encodes two mRNA, and three protein isoforms (pVHL213, pVHL160 and pVHL172). The pVHL protein is part of an E3 ligase complex involved in the ubiquitination and proteasomal degradation of different proteins, particularly hypoxia inducible factors (HIF) that drive the transcription of genes involved in the regulation of cell proliferation, angiogenesis or extracellular matrix remodelling...
September 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/29097620/insights-into-epigenetic-remodeling-in-vhl-deficient-clear-cell-renal-cell-carcinoma
#16
Christopher J Ricketts, W Marston Linehan
Clear cell renal cell carcinoma (ccRCC) is characterized by loss of the von Hippel-Lindau tumor suppressor gene (VHL), and the functional tumorigenic consequences of this loss have been used to develop therapies for advanced ccRCC, such as targeting activation of the HIF pathway. Yao and colleagues elucidate how VHL loss contributes to chromatin alteration at both gene promoters and enhancers/superenhancers, in both an HIF-dependent as well as independent manner, and how this may provide additional targets for therapeutic intervention in advanced ccRCC...
November 2017: Cancer Discovery
https://www.readbyqxmd.com/read/29095068/pro-angiogenic-gene-expression-is-associated-with-better-outcome-on-sunitinib-in-metastatic-clear-cell-renal-cell-carcinoma
#17
Benoit Beuselinck, Annelies Verbiest, Gabrielle Couchy, Sylvie Job, Aurélien de Reynies, Clément Meiller, Maarten Albersen, Virginie Verkarre, Evelyne Lerut, Arnaud Méjean, Jean-Jacques Patard, Brigitte Laguerre, Nathalie Rioux-Leclercq, Patrick Schöffski, Stéphane Oudard, Jessica Zucman-Rossi
OBJECTIVES: Clear-cell renal cell carcinomas (ccRCC) are characterized by hyper-vascularization and can respond to vascular endothelial growth factor receptor (VEGFR) inhibitors such as sunitinib. We aimed to study the predictive value of the expression of genes in the hypoxia induced factor (HIF) - vascular endothelial growth factor (VEGF) - VEGFR-pro-angiogenic pathway in metastatic ccRCC (m-ccRCC) patients treated with sunitinib and the correlation between the expression of these genes and the molecular ccrcc-classification, the expression of genes involved in the immune-suppressive microenvironment and Von Hippel-Lindau (VHL) - and Polybromo-1 (PBRM1) - mutational status...
November 2, 2017: Acta Oncologica
https://www.readbyqxmd.com/read/29079709/hif2%C3%AE-targeted-rnai-therapeutic-inhibits-clear-cell-renal-cell-carcinoma
#18
So C Wong, Weijun Cheng, Holly Hamilton, Anthony L Nicholas, Darren H Wakefield, Aaron Almeida, Andrei V Blokhin, Jeffrey Carlson, Zane C Neal, Vladimir Subbotin, Guofeng Zhang, Julia Hegge, Stephanie Bertin, Vladimir S Trubetskoy, David B Rozema, David L Lewis, Steven B Kanner
Targeted therapy against VEGF and mTOR pathways has been established as the standard-of-care for metastatic clear cell renal cell carcinoma (ccRCC); however, these treatments frequently fail and most patients become refractory requiring subsequent alternative therapeutic options. Therefore, development of innovative and effective treatments is imperative. About 80-90% of ccRCC tumors express an inactive mutant form of the von Hippel-Lindau protein (pVHL), an E3 ubiquitin ligase that promotes target protein degradation...
October 27, 2017: Molecular Cancer Therapeutics
https://www.readbyqxmd.com/read/29075773/association-of-vhl-genotype-with-pancreatic-neuroendocrine-tumor-phenotype-in-patients-with-von-hippel-lindau-disease
#19
Amit Tirosh, Samira M Sadowski, W Marston Linehan, Steven K Libutti, Dhaval Patel, Naris Nilubol, Electron Kebebew
No abstract text is available yet for this article.
October 26, 2017: JAMA Oncology
https://www.readbyqxmd.com/read/29072683/plasminogen-kringle-5-suppresses-gastric-cancer-via-regulating-hif-1%C3%AE-and-grp78
#20
Shuhuan Fang, Honghai Hong, Lei Li, Dan He, Zumin Xu, Shaoyuan Zuo, Jing Han, Qiyuan Wu, Zhiyu Dai, Weibin Cai, Jianxing Ma, Chunkui Shao, Guoquan Gao, Xia Yang
Inhibition of tumour angiogenesis has an important role in antitumour therapy. However, a recent study indicates that antiangiogenesis therapy may lead to glucose-related protein 78 (GRP78) associated antiapoptotic resistance. The present study aims to elucidate the dual effects of plasminogen kringle 5 (K5) on tumour angiogenesis and apoptosis induction by targeting hypoxia-inducible factor 1α (HIF-1α) and GRP78. Co-immunoprecipitation and western blotting were used for examining the ubiquitination of HIF-1α and analysing angiogenesis and apoptosis-associated proteins...
October 26, 2017: Cell Death & Disease
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