The biological heterogeneity of glioblastoma, IDH-wildtype (GBM, CNS WHO grade 4), the most aggressive type of brain cancer, is a critical hallmark, caused by changes in the genomic mutational asset and influencing clinical progression over time. The understanding and monitoring of the mutational profile is important not only to reveal novel therapeutic targets in this set of patients, but also to ameliorate the clinical stratification of subjects and the prognostic significance. As neurosurgery represents the primary technique to manage GBM, it is of utmost importance to optimize alternative and less invasive methods to monitor the dynamic mutation profile of these patients. Extracellular vesicles (EVs) are included in the liquid biopsy analysis and have emerged as the biological mirror of escaping and surviving mechanisms by many tumors, including glioblastoma. Very few studies have investigated the technical feasibility to detect and analyze the genomic profile by Next-Generation Sequencing (UMI system) in circulating EVs of patients with grade IV glioblastoma. Here, we attempted to characterize and to compare the corresponding matched tissue samples and potential variants with pathogenic significance of the DNA contained in peripheral-blood-derived EVs. The NGS analysis has revealed that patients with grade IV glioblastoma exhibited lesser DNA content in EVs than controls and that, both in EVs and matched cancer tissues, the NF1 gene was consistently mutated in all patients, with the c.2568C>G as the most common pathogenic variant expressed. This study supports the clinical utility of circulating EVs in glioblastoma as an eligible tool for personalized medicine.
Calvarial metastases are a relatively rare entity, with an overall incidence of 3–4%. Among these cases, metastases arising from salivary gland cancers are even rarer; in fact, large studies regarding salivary gland tumors showed that brain metastases are observed in 0.8% of the cases. Generally, bone metastases have been described in proximity to primary tumors, while bloodstream-disseminated lesions are often located inside the brain parenchyma. During every surgical step, traction on lower-lying infiltrated tissues must be avoided in order to successfully remove the lesion. This case report presents the first ever case of a 67-year-old woman affected by submandibular gland undifferentiated adenocarcinoma metastasis with a full-thickness involvement of the calvarium, pachy- and leptomeninges.
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