RESUMEN
OBJECTIVE: To further investigate the role of Type 2 neurofibromatosis (NF2) gene transcript mutations in the sporadically occurring counterparts of NF2-associated tumors. METHODS: Reverse transcription-polymerase chain reaction followed by agarose gel electrophoresis, single strand conformation polymorphism analysis, and automated deoxyribonucleic acid sequence analysis were used to screen for mutations in the NF2 gene transcript in seven unrelated patients with sporadic intramedullary spinal cord ependymomas. RESULTS: Five of seven intramedullary spinal cord ependymomas harbored detectable mutations. All of these mutations occurred in the region of the transcript that is homologous to known cytoskeletal proteins and resulted in significant truncation of the predicted protein product. CONCLUSION: Mutations of the NF2 transcript occur in the majority of sporadic intramedullary spinal cord ependymomas. These mutations are frequent in a region of the transcript that is homologous to a family of cytoskeletal proteins, and they probably render the protein product inactive. These results add to the body of knowledge concerning the role of the NF2 gene transcript in tumorigenesis.
Asunto(s)
Ependimoma/genética , Genes de la Neurofibromatosis 2/genética , Mutación/genética , Neoplasias de la Médula Espinal/genética , Transcripción Genética/genética , Adulto , Proteínas del Citoesqueleto/genética , Análisis Mutacional de ADN , Femenino , Humanos , Masculino , Persona de Mediana Edad , Reacción en Cadena de la Polimerasa , Análisis de SecuenciaRESUMEN
Surgical treatment of diseases involving the thoracolumbar spine offers a unique challenge to the spine surgeon. Although more familiar posterior techniques are useful for a variety of thoracolumbar problems, the management of disease in this region is often optimized by an anterior approach. Thoracolumbar surgery requires an understanding of the relevant surgical anatomy, the pathologic processes affecting this region, and the relative indications and contraindications for particular operative strategies. It is also essential to be familiar with the management of potential morbidity, methods for avoiding complications, and the selection of particular fusion techniques and instrumentation devices associated with specific operative strategies.