Gliomas, particularly high-grade gliomas, represent the most common and aggressive tumors of the CNS and are still burdened by high mortality and a very poor prognosis, regardless of the type of therapy. Their diagnosis and monitoring rely on imaging techniques and direct biopsy of the pathological tissue; however, both procedures have inherent limitations. To address these limitations, liquid biopsies have been proposed in this field. They could represent an innovative tool that could help clinicians in the early diagnosis, monitoring, and prognosis of these tumors. Furthermore, the rapid development of next-generation sequencing (NGS) technologies has led to a significant reduction in sequencing cost, with improved accuracy, providing a molecular profile of cancer and leading to better survival results and less disease burden. This paper focuses on the current clinical application of liquid biopsy in the early diagnosis and prognosis of cancer, introduces NGS-related methods, reviews recent progress, and summarizes challenges and future perspectives.

Mucopolysaccharidoses (MPSs) are a rare group of heterogeneous genetic and metabolic disorders, caused by loss of functions of several enzymes that are involved in glycosaminoglycan catabolism. Their progressive accumulations in cells, tissues, and consequently, organs lead to several clinical manifestations, such as musculoskeletal involvement. Indeed, the most common manifestation in the central nervous system is represented by cervical spinal stenosis due to bony alterations or dural thickening. Cervical involvement can commonly cause myelopathy and instability exerting severe symptoms. A prompt diagnosis and treatment of the aforementioned conditions is mandatory to ensure a better quality of life in patients with such debilitating disorders. Nevertheless, a clear consensus about their management (i.e., surgical or not) is still lacking, leading to an inevitable delay. This review aims to investigate and discuss the main causes of myelopathy in patients with mucopolysaccharidoses, available therapeutic strategies, and the impact and role of surgery on the neurological outcome.

Background: The fifth edition of the WHO Classification of Tumors of the Central Nervous System (CNS), published in 2021, marks a step forward the future diagnostic approach to these neoplasms. Alongside this, radiomics has experienced rapid evolution over the last several years, allowing us to correlate tumor imaging heterogeneity with a wide range of tumor molecular and subcellular features. Radiomics is a translational field focused on decoding conventional imaging data to extrapolate the molecular and prognostic features of tumors such as gliomas. We herein analyze the state-of-the-art of radiomics applied to glioblastoma, with the goal to estimate its current clinical impact and potential perspectives in relation to well-rounded patient management, including the end-of-life stage. Methods: A literature review was performed on the PubMed, MEDLINE and Scopus databases using the following search items: “radiomics and glioma”, “radiomics and glioblastoma”, “radiomics and glioma and IDH”, “radiomics and glioma and TERT promoter”, “radiomics and glioma and EGFR”, “radiomics and glioma and chromosome”. Results: A total of 719 articles were screened. Further quantitative and qualitative analysis allowed us to finally include 11 papers. This analysis shows that radiomics is rapidly evolving towards a reliable tool. Conclusions: Further studies are necessary to adjust radiomics’ potential to the newest molecular requirements pointed out by the 2021 WHO classification of CNS tumors. At a glance, its application in the clinical routine could be beneficial to achieve a timely diagnosis, especially for those patients not eligible for surgery and/or adjuvant therapies but still deserving palliative and supportive care.

The black hole sign (BHS) is a rare radiological sign seen in the hyperacute phase of bleeding. It manifests within a hemorrhage in early hours, with limited studies exploring clot formation and evolution over a short duration. Despite various hypothesized mechanisms, the precise lifetime and dynamics of black hole sign development remain unclear. We describe the rare finding of a black hole sign within a deep brain hemorrhage, initially observed in the lateral portion of the clot during the first CT scan. Remarkably, in a subsequent CT scan, just 1 hour later, the BHS migrated towards the inner edge. Notably, while the hemorrhage size remained largely unchanged within this short timeframe, hyperacute bleeding led to increased perihematomal edema and sulci flattening. Histopathological features of the “evolving clot” are initially characterized by heightened cellularity. This increased cell density renders the hematoma less resistant to compressive forces, such as heightened endocranial pressure, offering a plausible explanation for the crushing and displacement of the BHS. Our study sheds light on the unique radiological progression of BHS within a deep brain ICH, emphasizing its association with dynamic clot formation and the consequential impact on surrounding structures.

Bony hemangiomas are benign vascular lesions with an expansive growth; usually they tend to obliterate the entire bony cavity. They are typical lesion of the spinal bones, but they can rarely arise within other bones of the neurocranium. Diabetic microangiopathy is a condition characterized by the development of aberrant vessel tangles anastomosed to each other due to dysregulated neoangiogenesis. We report the case of a 56-year-old woman, suffering from type 2 diabetes mellitus, admitted to the neurology department due to a reported worsening of paresthesias and dysesthesias of the upper and lower limbs. She performed a contrast-enhanced brain CT scan that showed the presence, at the level of the right mastoid process, of an hypervascular angioma. A subsequent MRI study of the brain and spine showed the presence of multiple bone angiomas, at the level of the right frontal theca and C7, Th3, and Th7 vertebral bodies. Due to the absence of further symptoms and clinical and radiological signs of intracranial compression, the patient did not perform surgery. A radiological follow-up was advised. Although possible pathophysiological correlations between diabetes and vertebral hemangiomas are mentioned in literature, vascular lesions of this type involving vertebrae and skull base simultaneously can be discovered in a patient with chronic diabetic disease. As long as these lesions remain asymptomatic, surgical treatment is not indicated, and the patient is followed over time with radiological follow-up.

Background: Terson syndrome (TS) is a neuro-ophthalmologic disease arising due to subarachnoid hemorrhage (SAH), resulting in the formation of subhyaloid hemorrhagic spots. These spots can affect the ability to see due to the alteration of the optic cameras. Although it often affects both eyes, the symptoms and the eye involvement can be asymmetrical in rare cases. Case Description: We described the case of a 52-year-old female patient who developed Terson disease following the rupture of a right middle cerebral artery aneurysm occurring during coitus with SAH (Fisher grade III). The aneurysm was treated by endovascular coiling. Interestingly, despite the major involvement of the right eye, the patient primarily manifested symptoms of visual changes in the left eye. Conclusion: TS is a frequent ocular complication of SAH, with symptoms typically affecting both eyes. Characterized by hemorrhagic spots in both subhyaloid layers, the syndrome’s symptomatology is generally bilateral. However, in the case described, the manifestation is deemed atypical, primarily appearing contralateral to the hemisphere exhibiting a greater pattern of SAH.