Central nervous system high-grade neuroepithelial tumor with BCOR alteration (CNS HGNET-BCOR)-case-based reviews.

INTRODUCTION: High-grade neuroepithelial tumor with BCOR alteration (HGNET BCOR) has been recently classified as a new category of tumors among those previously known as PNET. They are molecularly characterized by the mutation of the BCOR gene, a corepressor of BCL6 a gene (which has an important role in immune responses). Only case reports and very small series have been published so far; therefore, their behavior and management are still under investigation. The goal of the present case-based review is to provide a summary about the state of the art on these tumors. METHODS AND RESULTS: The pertinent review has been reviewed, and an exemplary case has been reported (15-month-old boy with large HGNET BCOR of the left cerebellopontine angle). So far, 24 cases have been described, with a 5.5 mean age at diagnosis and a 1.4 male/female ratio. The cerebellar hemisphere is the more frequently involved region. No metastases are usually detected at diagnosis, though they are common in case of tumor recurrence. There are no specific radiological or pathological features to differentiate HGNET BCOR from other brain malignant neuroepithelial tumors so that the differential diagnosis is obtained by DNA methylation profiling. The management possibly relies on surgery and (high dose) chemotherapy and radiotherapy but without a dedicated protocol yet. The overall survival after 48-month follow-up is 50%. A gross total resection, which is mandatory for a better outcome, is achievable in the majority of cases. CONCLUSIONS: The clinical research on HGNET BCOR is just at the beginning. New targets and wide-ranging clinical trials are needed to get an optimal management.

Secondary Benefits of Microsurgical Intervention on the Vertebral Artery (V1 Segment) for Refractory Vertebrobasilar Insufficiency: Alleviation of Parkinsonism-Like Symptoms.

OBJECTIVE: The objective of this study was to investigate the outcomes of microneurosurgical interventions on V1 segment of the vertebral artery in patients with refractory vertebrobasilar insufficiency (VBI) due to dolicoarteriopathy and external compressions and to assess the secondary benefits of Parkinsonism-like symptoms. METHODS: Retrospective analysis encompassed 101 patients treated for vertebral artery dolicoarteriopathy or compression-related refractory VBI from 2016 to 2023. Of these, 16 patients exhibited drug-resistant Parkinsonism-like symptoms. The diagnostic evaluation included cerebral computed tomography/magnetic resonance angiography or digital subtraction angiography and brain computed tomography or magnetic resonance perfusion studies, corroborated by preoperative and 6- and 12-month postoperative Movement Disorder Society-Unified Parkinson's Disease Rating Scale Part 3 assessments. Data were analyzed through Turkey's "E-nabiz" system, employing Stata16 for statistical scrutiny. RESULTS: A significant reduction in Movement Disorder Society-Unified Parkinson's Disease Rating Scale scores was observed (preoperative: 26.75±10.91; 6 months: 23.09±9.24; 12 months: 22.5±8.73; P < 0.001). Postoperative follow-up denoted that 43.7% of patients ceased medication and 50% reduced antiparkinsonian drugs. The microneurosurgical approach resulted in complete remission of VBI-related symptoms in 84.6% of patients, with the rest showing partial or marked improvement. At 6 months postoperation, perfusion studies revealed posterior border zone or cerebellar perfusion enhancements in 81% (13 out of 16) of patients, with full symptom resolution, while the remaining 19% (3 out of 16) showed partial perfusion and clinical improvements, particularly in regions supplied by the posterior cerebellar artery or posterior inferior cerebellar artery. The absence of operative mortality and minimal transient morbidities underscored the procedure's safety. CONCLUSIONS: Microneurosurgery for vertebral artery anomalies in refractory VBI patients, particularly those with concomitant parkinsonian-like syndromes, has demonstrated potential in symptom remission and medication reduction.

Analysis of diffusion changes in cerebral tissues of Parki̇nson's patients who underwent subthalamic nucleus deep brain stimulation: Correlation of improvements in motor and neuropsychiatric symptoms.

OBJECTIVE: Parkinson's disease (PD) as a neurodegenerative disorder characterized by a reduction in both the quantity and functionality of dopaminergic neurons. This succinctly highlights the central pathological feature of PD and its association with dopaminergic neuron degeneration, which underlies the motor and non-motor symptoms of the disease. This study aims to elucidate the nuances of apparent diffusion coefficient (ADC) changes in different cerebral regions by after the bilateral subthalamic nucleus (STN) deep brain stimulation (DBS) surgery of PD, as well as to investigate their potential interactions with the motor and neuropsychiatric spectrum. METHODS: Patients who underwent STN-DBS surgery for PD between 2017 and 2019 were included in this study. The results of diffusion magnetic resonance imaging (MRI), Unified Parkinson Disease Rating Scale (UPDRS) III scores, Beck and Hamilton depression tests were recorded before and at the 3rd month of postoperative stimulation. The data obtained were evaluated with the Wilcoxon signed rank test. Result of the statistical tests were within the 95 % confidence interval and p values were significant below 0.05. RESULTS: Our study was conducted with a total of 13 patients, 8 men and 5 women. As a result of measurements made in a total of 32 different regions, especially in the motor and neuropsychiatric areas of the brain, an increase in ADC values was found in all areas. ADC changes of eight localizations such as left corpus callosum, right corona radiata, left corona radiata, hippocampus, right insula, left superior cerebellar peduncle, left caudate nucleus and left putamen were statistically significant. UPDRS III scores improved by 57 % (p <0.05), and Beck and Hamilton depression scores by 25 % and 33 %, respectively (p> 0.05). CONCLUSIONS: This article implicate that bilateral STN-DBS surgery potentially exerts beneficial effects on both motor and neuropsychiatric symptomatology in individuals with PD. We believe that this therapeutic mechanism is hypothesized to involve modulation of diffusion alterations within distinct cerebral tissues.

Is There a Genetic Relationship between Acute Lymphoblastic Leukemia and Meningioma? A Case Report of the Analyses of Three Genes / Há alguma relação genética entre leucemia linfoblástica aguda e meningioma? Relato de caso das análises de três genes

Meningiomas are the most common tumors of the central nervous system, and they are generally slow growing and benign. Acute lymphoblastic leukemia (ALL) is a life-threatening ltype of cancer that involves the accumulation of peripheral blood vessels and immature cells in the bone marrow. Genetic mutations play an important role in the etiology of both diseases. Therefore, in the case herein presented, we investigated the meningioma 1 (MN1), nucleophosmin 1 (NPM1), and Wilms tumor 1 (WT1) genes for possible genetic mutations. A 27-year-old female with a chief complaint of headache and history of lllALL presented with a mass in the left frontal lobe. The pathological analysis revealed a fibroblastic meningioma. However, the three genes were found to be normal in the analysis. In light of these findings, we did not encounter any evidence of a genetic relationship between meningioma and ALL in the present study.

Os meningiomas são os tumores mais comuns do sistema nervoso central e geralmente apresentam crescimento lento e são benignos. A leucemia linfoblástica aguda (LLA) é um tipo de câncer com risco de vida que envolve o acúmulo de vasos sanguíneos periféricos e células imaturas na medula óssea. As mutações genéticas desempenham um papel importante na etiologia de ambas as doenças. Portanto, no caso aqui apresentado, investigamos os genes do meningioma 1 (MN1), nucleofosmina 1 (NPM1) e tumor de Wilms 1 (WT1) para possíveis mutações genéticas. Uma mulher de 27 anos com queixa principal de cefaleia e história de LLL apresentou uma massa no lobo frontal esquerdo. A análise anatomopatológica revelou um meningioma fibroblástico. No entanto, os três genes foram considerados normais na análise. À luz desses achados, não encontramos nenhuma evidência de relação genética entre meningioma e LLA no presente estudo.

Evaluation of Apparent Diffusion Coefficients in the Cerebellar Tonsils and Bulbus in Chiari Type I Malformations: Comparison Before and After Surgery.

AIM: To evaluate the preoperative and postoperative 6th month mean apparent diffusion coefficient (ADC) values of the cerebellar tonsils and bulbus in patients with Chiari Malformation Type I (CMI), and to compare the results with healthy controls. MATERIAL AND METHODS: We included 15 patients with CMI who underwent suboccipital decompression, upper cervical laminectomy, and duraplasty surgery, and compared them with 10 healthy individuals. Three regions of interest were placed, one each in the cerebellar tonsils and one in the bulbus. The mean ADC values were measured separately in each region. RESULTS: Among the patients, mean ADC values were significantly decreased after surgery compared with before surgery. The mean ADC values before surgery were significantly higher for patients than for controls; however, although mean ADC values were slightly higher after surgery for patients than for controls, the differences were not significant. Thus, after surgical intervention, ADC values in patients with CMI became close to those of normal individuals. CONCLUSION: The increased ADC values in patients with CMI before surgery implied that not only morphologic changes but also increased diffusivity may play a key role in the pathophysiology and clinical presentation of the disease. We conclude that decompression surgery can produce favorable diffusional alterations.