Barry D. Birch

Frequent type 2 neurofibromatosis gene transcript mutations in sporadic intramedullary spinal cord ependymomas.

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.

High Cervical Split Cord Malformation and Neurenteric Cyst Associated with Congenital Mirror Movements: Case Report

A 48-year-old woman with congenital mirror movements of the hands presented with a high cervical split spinal cord malformation and a ventrally located neurenteric cyst. The clinical, radiological, and surgical features are presented. A brief discussion of the literature and embryology pertaining to split cord malformations and mirror movements is included. To our knowledge, this is the first case of radiographically and surgically proven split cord malformation associated with either mirror movements or a neurenteric cyst presenting in an adult.

Surgery for Primary and Metastatic Tumors of the Spine

Elsberg’s 1925 description of the surgical treatment of spinal-cord tumors is among the first extensive series on surgery of the spine (Elsberg 1925). The series illustrated the limitations at that time in delineating tumor size and location. These limitations were asso ciated with long surgical procedures and a significant mortality rate. Prior to advances in microsurgical techniques, surgery of most spinal-cord tumors consisted of open biopsy and radiation therapy. Today, excellent results can be anticipated with all but the most malignant of spinal-cord tumors. This progress has been fostered by significant advances in disciplines that are essential to safe and efficacious surgery of the bony elements of the spine and the neural structures of the spinal-cord. In this chapter we present surgical considerations for patients with primary and metastatic tumors of the spine. Important advances and applications of radiation therapy for patients with spinal-cord tumors are discussed in the following chapter.