von Hippel-Lindau Disease Gene Alterations Associated With Endolymphatic Sac Tumor
نویسندگان
چکیده
منابع مشابه
Tumors of the endolymphatic sac in von Hippel-Lindau disease.
CONTEXT Endolymphatic sac tumors (ELSTs) are associated with von Hippel-Lindau disease and cause irreversible sensorineural hearing loss (SNHL) and vestibulopathy. The underlying mechanisms of audiovestibular morbidity remain unclear and optimal timing of treatment is not known. OBJECTIVE To define the mechanisms underlying audiovestibular pathophysiology associated with ELSTs. DESIGN, SETT...
متن کاملEndolymphatic sac tumour in von Hippel-Lindau disease: management strategies
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 involvin...
متن کاملEndolymphatic sac tumor in a patient with von Hippel-Lindau disease: MR imaging findings.
A 29-year-old male patient with von Hippel-Lindau disease who had an operation for cerebellar hemangioblastoma six years ago is presented. The patient had a four-year history of a slow-growing, locally invasive vascularized lesion of the temporal bone involving the cerebellopontine angle. The mass, studied by MR imaging, was almost completely cystic in appearance. Pathological examination after...
متن کاملCharacterization of endolymphatic sac tumors and von Hippel-Lindau disease in the International Endolymphatic Sac Tumor Registry.
BACKGROUND Endolymphatic sac tumors (ELSTs) are, with a prevalence of up to 16%, a component of von Hippel-Lindau (VHL) disease. Data from international registries regarding heritable fraction and characteristics, germline VHL mutation frequency, and prevalence are lacking. METHODS Systematic registration of ELSTs from international centers of otorhinolaryngology and from multidisciplinary VH...
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Serviços de Radiologia, Otorrinolaringologia e Genética Clínica do Hospital Universitário de Brasília, Universidade de Brasília (UnB), Brasília DF, Brazil: Médica Residente de Radiologia e Diagnóstico por Imagem, Hospital Universitário de Brasília (HUB), Universidade de Brasília (UnB); Médico Neurorradiologista, Doutorando do Programa de Pós-graduação em Ciências Médicas da Faculdade de Medicin...
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ژورنال
عنوان ژورنال: JNCI Journal of the National Cancer Institute
سال: 1997
ISSN: 0027-8874,1460-2105
DOI: 10.1093/jnci/89.13.970-a