RESUMEN
OBJECTIVE: The authors searched for genetic and transcriptional signatures associated with tumor progression and recurrence in their cohort of patients with meningiomas, combining the analysis of targeted exome, NF2-LOH, transcriptome, and protein expressions. METHODS: The authors included 91 patients who underwent resection of intracranial meningioma at their institution between June 2000 and November 2007. The search of somatic mutations was performed by Next Generation Sequencing through a customized panel and multiplex ligation-dependent probe amplification for NF2 loss of heterozygosity. The transcriptomic profile was analyzed by QuantSeq 3' mRNA-Seq. The differentially expressed genes of interest were validated at the protein level analysis by immunohistochemistry. RESULTS: The transcriptomic analysis identified an upregulated set of genes related to metabolism and cell cycle and downregulated genes related to immune response and extracellular matrix remodeling in grade 2 (atypical) meningiomas, with a significant difference in recurrent compared with nonrecurrent cases. EZH2 nuclear positivity associated with grade 2, particularly with recurrent tumors and EZH2 gene expression level, correlated positively with the expression of genes related to cell cycle and negatively to genes related to immune response and regulation of cell motility. CONCLUSIONS: The authors identified modules of dysregulated genes in grade 2 meningiomas related to the activation of oxidative metabolism, cell division, cell motility due to extracellular remodeling, and immune evasion that were predictive of survival and exhibited significant correlations with EZH2 expression.
Asunto(s)
Neoplasias Meníngeas , Meningioma , Humanos , Meningioma/cirugía , Neoplasias Meníngeas/cirugía , Recurrencia Local de Neoplasia/patología , Ciclo Celular , División Celular , Proteína Potenciadora del Homólogo Zeste 2/genéticaRESUMEN
BACKGROUND: Acute spontaneous subdural hematoma is rare. For patients under 40 years of age, we found only five previous reports. Here, we have presented a sixth case study. CASE DESCRIPTION: A 27-year-old male initially presented with a high-intensity headache without any neurological deficits. The brain computed tomography revealed a left frontoparietal lesion, consistent with an acute epidural hematoma. However, the bone window examination showed no fracture, and at surgery, this lesion proved to be an acute subdural hematoma. Additional studies, including cerebral angiography, brain magnetic resonance imaging, and a complete coagulation work-up, were all negative. CONCLUSION: This case report and literature review focused on the rarity of acute idiopathic/spontaneous subdural hematomas.