Endolymphatic sac tumor and von Hippel-Lindau disease in a single family.
نویسندگان
چکیده
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 Medicina (FM) da UnB; Doutor em Ciências da Saúde e Médico Otorrinolaringologista do Setor de Implante Coclear do HUB/UnB; Médico Radiologista, Hospital Regional do Paranoá, Secretaria de Estado da Saúde do Distrito Federal; Doutora em Genética e Médica Geneticista do Serviço de Genética Clínica do HUB/UnB; Professor Titular de Otorrinolaringologia da FM/UnB e Chefe do Serviço de Otorrinolaringologia do HUB/UnB; Professora Titular de Genética Clínica, Departamento de Genética e Morfologia, Instituto de Biologia, UnB e Chefe do Serviço de Genética Clínica do HUB/UnB.
منابع مشابه
Endolymphatic 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 کاملEndolymphatic sac tumours and von Hippel-Lindau disease - case report, molecular analysis and histopathological characterization.
Endolymphatic sac tumours (ELST) are aggressive papillary tumours of the temporal bone. The name was finally determined after the endolymphatic sac was determined as the site of their origin. They should be considered in patients with tumours eroding the petrous part of the temporal bone, extending to the cerebellopontine angle or other adjacent structures. These very rare tumours in the genera...
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Von Hippel-Lindau syndrome is an autosomal dominant disorder that includes susceptibility to hemangioblastomas of the eyes and central nervous system, renal clear cell carcinoma, multiple pancreatic cysts, serous cystadenomas and pancreatic neuroendocrine tumors, pheochromocytoma, endolymphatic sac tumors, and cystadenomas of the epididymis and broad ligament. We present a 16-year-old male who ...
متن کاملDeafness due to bilateral endolymphatic sac tumours in a case of von Hippel-Lindau syndrome.
A case of bilateral endolymphatic sac tumours is reported. In a patient with von Hippel-Lindau syndrome, tumour growth in the right cerebellopontine angle caused deafness. The tumour was removed and classified as a metastasis from a thyroid carcinoma. However, on thyroidectomy no primary neoplasm could be found. Eight years later a similar tumour was operated on in the left petrosal bone. Histo...
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Von Hippel-Lindau (VHL) disease is a rare type of oncological disease with an incidence of 1/36,000 individuals in the general population [1,2]. The most frequent tumors are hemangioblastomas (HB) of the central nervous system (CNS) and retina, as well as renal cell carcinoma [3,4]. In addition, pheochromocytomas, pancreatic neuroendocrine tumors, pancreatic serous cystoadenomas, endolymphatic ...
متن کاملSomatic von Hippel-Lindau gene mutations detected in sporadic endolymphatic sac tumors.
Endolymphatic sac tumors (ELSTs) occur sporadically or in association with an autosomal dominantly inherited tumor syndrome, von Hippel-Lindau (VHL) disease. In VHL disease, a germline mutation of the VHL tumor suppressor gene is inherited, and loss of function of the wild-type allele occurs through genetic deletion with subsequent development of neoplastic growth. Genetic alterations associate...
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ورودعنوان ژورنال:
- Arquivos de neuro-psiquiatria
دوره 67 4 شماره
صفحات -
تاریخ انتشار 2009