Search results for "hemangioblastoma"
showing 6 items of 6 documents
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…
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…
Detection of a novel germline mutation in the von Hippel-Lindau tumour-suppressor gene by fluorescence-labelled base excision sequence scanning (F-BE…
1999
The von Hippel Lindau (VHL) syndrome is an inherited multi-tumour disorder characterised by clinical heterogeneity and high penetrance. The VHL gene has been shown to be a tumour-suppressor gene. A carrier of a germline mutation will be predisposed to a high variety of benign and malign tumours affecting different organ systems. As treatment of VHL malformations in presymptomatic stages will improve significantly the clinical outcome and the patient's quality of life, early and unambiguous detection of a germline mutation is mandatory. Direct sequencing especially of large genes might be laborious and time consuming. Therefore, most laboratories apply single strand conformational polymorphi…
Chromatic-achromatic perimetry in four clinic cases: Glaucoma and diabetes
2015
Color perimetry has interesting clinical application for the diagnosis and detection of certain eye conditions, due to the variations that certain diseases can cause in chromatic thresholds, both in the red-green (RG) and the blue-yellow (BY) pathways.[1,2,3,4] The separate study of the visual function of both the chromatic and achromatic mechanisms could be more efficient in detecting sensitivity variations, and such variations would not be obscured by the intrusion of other mechanisms. Currently, the supply of conventional perimeters that are capable of performing a chromatic perimetry test is very limited and with reduced options regarding the possibility of choosing the physical charact…
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…