RESUMEN
Schwannomas are typically solitary, well-encapsulated, benign tumors running along or attached to a nerve. An intradural-extramedullary cervical spinal schwannoma, which first manifests as a swelling in the anterior neck, has not been reported to the best of our knowledge. We present the case of a 69-year-old patient complaining of a gradually worsening painful left cervical swelling for over 8 years. First, a posterior spinal midline approach was performed for the resection of the tumor and the tumor portion in the vertebral canal was totally removed. The second operation, the anterolateral approach, was planned to be executed in a second surgical session. The patient was discharged from the hospital without neurological deficits. Histopathological diagnosis was a schwannoma. The first aim of surgery is to treat neurological deficits in patients with cervical intraspinal schwannomas with/without extension into the extravertebral paravertebral neck regions. The surgical strategy combines the posterior midline and the anterolateral cervical approaches in the same session or at different times.
Schwannomas são tipicamente tumores solitários, bem encapsulados e benignos que correm ao longo ou aderem a um nervo. Até onde sabemos, um schwannoma espinhal cervical intradural-extramedular que se manifesta pela primeira vez como um inchaço na região anterior do pescoço não foi relatado. Apresentamos o caso de um paciente de 69 anos com queixa de inchaço cervical esquerdo doloroso de piora gradual há mais de 8 anos. Primeiramente, uma abordagem da linha média da coluna vertebral posterior foi realizada para a ressecção do tumor, e a porção do tumor no canal vertebral foi totalmente removida. A segunda operação, via anterolateral, foi planejada para ser realizada em uma segunda sessão cirúrgica. O paciente recebeu alta hospitalar sem déficits neurológicos. O diagnóstico histopatológico foi um schwannoma. O primeiro objetivo da cirurgia é tratar déficits neurológicos em pacientes com schwannomas intraespinhais cervicais com/sem extensão para as regiões extravertebrais do pescoço paravertebral. A estratégia cirúrgica combina a abordagem da linha média posterior e a abordagem anterolateral cervical na mesma sessão ou em momentos diferentes.
RESUMEN
BACKGROUND/AIM: Individuals with type 2 Neurofibromatosis are predisposed for the appearance of schwannomas. In the present study we analyzed the loss of heterozygosity and mutations in the NF2 gene in patients with sporadic Schwannoma without Neurofibromatosis type 2. MATERIALS AND METHODS: We analyzed 39 patients with sporadic spinal schwannoma. We quantified the number of alleles by FISH and sequenced the NF2 gene. RESULTS: We identified 16/39 patients with point mutations and/or LOHs in the tumor samples analyzed. The LOHs were found in 7/39 patients. Two homozygous mutations were detected in 4/39 tumors, and the presence of the mutation in heterozygosis was revealed in 3/39 patients. In two tumors, we detected the loss of one allele of the NF2 gene, with no mutation. CONCLUSION: The genetic alterations observed in the NF2 gene indicated that spinal schwannomas are associated with genetic alterations also found in other schwannomas and type 2 Neurofibromatosis, which reinforces the etiological role of this gene.