RESUMO
von Hippel-Lindau (VHL) disease is a hereditary tumor syndrome caused by mutations in the VHL tumor suppressor gene. In a family with VHL, we identified a novel missense mutation (N78D), which affects a fully conserved residue in the VHL protein. Interestingly, several other missense mutations reported at same codon in the VHL protein that might be associated with a low risk of renal cell carcinoma (RCC) but not pheochromocytoma appear to be associated with a VHL type 1 phenotype. At the moment, RCC is present in none of the affected mutation carriers in the family described here. In contrast to other missense changes at codon 78, the change in our VHL family is predicted to have a mild effect on VHL function, which apparently is insufficient to cause predisposition to RCC. Our findings suggest that the risk of RCC in VHL is attributable to the severity of the amino acid substitution at this particular codon in the VHL protein.
Assuntos
Carcinoma de Células Renais/genética , Neoplasias do Sistema Nervoso Central/genética , Hemangioblastoma/genética , Doenças Renais Císticas/genética , Neoplasias Renais/genética , Cisto Pancreático/genética , Proteína Supressora de Tumor Von Hippel-Lindau/genética , Doença de von Hippel-Lindau/genética , Adulto , Neoplasias do Sistema Nervoso Central/complicações , Feminino , Mutação em Linhagem Germinativa , Hemangioblastoma/complicações , Humanos , Doenças Renais Císticas/complicações , Masculino , Mutação de Sentido Incorreto , Cisto Pancreático/complicações , Reação em Cadeia da Polimerase , Análise de Sequência de DNA , Doença de von Hippel-Lindau/complicaçõesRESUMO
OBJECTIVE: A technical description of a novel percutaneous technique of anterior odontoid screw fixation is given and the clinical and radiological results of this technique in 5 patients are described. METHOD: The percutaneous anterior odontoid screw fixation technique was described as a cadaveric study in 1999. To the best of our knowledge, no patient series operated on by this technique has so far been presented in the English literature. We have percutaneously operated on 5 patients with unstable odontoid fractures between February 2004 and July 2006. RESULTS: There have not been any complications in our patients. The first four patients showed radiological evidence of fusion in their latest control. CONCLUSIONS: Percutaneous anterior odontoid screw fixation is a minimally invasive and feasible surgical procedure.
