Search results for "von Hippel-Lindau"
showing 10 items of 12 documents
Inverse regulation of vascular endothelial growth factor and VHL tumor suppressor gene in sporadic renal cell carcinomas is correlated with vascular …
1999
Tumors associated with the VHL (von Hippel-Lindau) disease, such as hemangioblastomas and renal carcinomas and their sporadic counterparts, are cystic and well vascularized. Mutations of the VHL tumor-suppressor gene and elevated levels of vascular endothelial growth factor (VEGF) have been described in these tumors. The upregulation of VEGF has been shown in vitro as a consequence of alteration of the VHL gene. No comprehensive in vivo analysis has yet been carried out of the factors affecting tumor growth, vascularization, VEGF, and VHL expression. We performed immunohistochemistry and mRNA studies on primary sporadic renal carcinomas and matching normal renal tissue. We semiquantitativel…
Detection of a germline mutation and somatic homozygous loss of the von Hippel-Lindau tumor-suppressor gene in a family with a de novo mutation
1996
von Hippel-Lindau (VHL) disease is a pleiotropic disorder featuring a variety of malignant and benign tumors of the eye, central nervous system, kidney, and adrenal gland. Recently the VHL gene has been identified in the chromosomal region 3p25-26. Prognosis and successful management of VHL patients and their descendants depend on unambiguous diagnosis. Due to recurrent hemangioblastomas, a29-year-old patient without familial history of VHL disease was diagnosed to be at risk for the disease. Histopathological examination of a small renal mass identified a clear cell tumor with a G1 grading. Genetic characterization of the germline and of the renal tumor was performed. Polymerase chain reac…
Tracheal development and the von Hippel-Lindau tumor suppressor homolog in Drosophila.
2000
von Hippel-Lindau disease is a hereditary cancer syndrome. Mutations in the VHL tumor suppressor gene predispose individuals to highly vascularized tumors. However, VHL-deficient mice die in utero due to a lack of vascularization in the placenta. To resolve the contradiction, we cloned the Drosophila VHL homologue (d-VHL) and studied its function. It showed an overall 50% similarity to the human counterpart and 76% similarity in the crucial functional domain: the elongin C binding site. The putative d-VHL protein can bind Drosophila elongin C in vitro. During embryogenesis, d-VHL is expressed in the developing tracheal regions where tube outgrowth no longer occurs. Reduced d-VHL activity (u…
Case report di emangioma iuxtapapillare sporadico
2011
Novel clinical insights into spinal hemangioblastoma in adults: a systematic review
2021
ABSTRACT Background Hemangioblastomas are well vascularized, benign CNS tumors and the third most common primary spinal cord tumor after astrocytoma/ependymoma, occurring sporadically or as a part of an autosomal dominant von Hippel-Lindau disease in which tumors are often multiple and prone to relapse. Spinal hemangioblastomas are commonly located in the cervical cord and associated with a syrinx formation. Due to location and growth trends, they may cause significant neurological deficit, impairing patient quality of life. We conducted a systematic review to understand better clinical insights of spinal hemangioblastoma in adults and compare spinal hemangioblastoma versus posterior crania…
Head and neck paragangliomas: Report of 175 patients (1989-2010)
2011
Attention of the otorhinolaryngologist needs to be drawn to the versatile aspects of head and neck paragangliomas (PGLs).This study is a retrospective, nonrandomized clinical study of all 175 individuals with PGLs treated in our department between 1989 and 2010. A genetic analysis was performed on 86 patients.The 175 patients presented 224 head and neck PGLs as well as 2 thyroid papillary carcinomas. Genetic analysis resulted in 1 patient positive for a von Hippel-Lindau (VHL) gene mutation and 34 for succinate dehydrogenase (SDH) gene mutations (22 SDHD, 7 SDHC, and 5 SDHB), 12 of the latter carrying a novel mutation. Thirty-three patients (18.9%) had multiple PGLs and 11 patients (6.3%) h…
Deregulation of E2-EPF Ubiquitin Carrier Protein in Papillary Renal Cell Carcinoma
2011
Molecular pathways associated with pathogenesis of sporadic papillary renal cell carcinoma (PRCC), the second most common form of kidney cancer, are poorly understood. We analyzed primary tumor specimens from 35 PRCC patients treated by nephrectomy via gene expression analysis and tissue microarrays constructed from an additional 57 paraffin-embedded PRCC samples via immunohistochemistry. Gene products were validated and further studied by Western blot analyses using primary PRCC tumor samples and established renal cell carcinoma cell lines, and potential associations with pathologic variables and survival in 27 patients with follow-up information were determined. We show that the expressio…
Angioma retiniano como síndrome mascarada de tumor del nervio óptico en la enfermedad de Von Hippel-Lindau
2006
espanolCaso clinico: Varon de 35 anos con antecedentes familiares de enfermedad de von Hippel-Lindau (VHL) diagnosticado de dos hemangiomas retinianos en ojo derecho (OD) y uno en ojo izquierdo. Las lesiones se trataron con crioterapia en OD y laserterapia en OI. A pesar de una aparente buena evolucion de las lesiones retinianas hubo una progresiva disminucion de la AV. Se realizo RM donde se evidencio lesiones tumorales del nervio optico (NO) bilaterales compatibles con glioma, meningioma o hemangioblastoma. Actualmente: AV (OD): movimiento de manos y AV(OI): 0,6. Discusion: La presencia de los hemangiomas retinianos en este paciente hizo retrasar el diagnostico de un tumor en el NO, infre…
von Hippel-Lindau Protein-Mediated Repression of Tumor Necrosis Factor Alpha Translation Revealed through Use of cDNA Arrays
2003
Based on evidence that the von Hippel-Lindau (VHL) tumor suppressor protein is associated with polysomes and interacts with translation regulatory factors, we set out to investigate the potential influence of pVHL on protein translation. To this end, renal cell carcinoma (RCC) cells that either lacked pVHL or expressed pVHL through stable transfection were used to prepare RNA from cytosolic (unbound) and polysome-bound fractions. Hybridization of cDNA arrays using RNA from each fraction revealed a subset of transcripts whose abundance in polysomes decreased when pVHL function was restored. The tumor necrosis factor alpha (TNF-alpha) mRNA was identified as one of the transcripts that prefere…
VHL gēna mutācijas gaišo šūnu nieru karcinomas gadījumā
2019
Nieru šūnu karcinoma ir sestais biežāk diagnosticētais audzējs no visām onkoloģiskajām diagnozēm pasaulē. Gaišo šūnu nieru karcinoma ir 65-70% no visiem saslimšanas gadījumiem ar nieru audzējiem. Izmaiņas von Hippel-Lindau (VHL) gēnā, kurš ir visbiežāk mutētais gēns gaišo šūnu nieru karcinomas gadījumā, tiek salīdzinātas starp in vitro audzētām cilvēku nieru proksimālo kanāliņu epitēlija šūnām un gaišo šūnu nieru karcinomas šūnu līnijām un primārajām šunām, kuras iegūtas no gaišo šūnu nieru karcinomas pacientu audiem un blakus esošiem veselajiem audiem. Darba rezultātā tika konstatēts viena nukleotīda polimorfisms pacientu gaišo šūnu nieru karcinomas audos un veselajos audos no VHL gēna izo…