Dual origin of vertebral artery and intimal relationship with spontaneous artery dissection: a case report and systematic review.

Dual origin of the vertebral artery (VA) is an uncommon anatomical variation. We describe a case of duplication origin at right vertebral artery (RVA) found incidentally in one elderly patient on investigation for cerebral aneurysm. Angiogram study showed a pseudoaneurysm at V4 segment of the RVA associated with embryological anatomy. The authors performed a systematic review of the similar cases reported worldwide.

Brainstem abscess treated conservatively.

BACKGROUND: Brainstem abscess is a rare condition with a variety of treatment approaches. In this paper, we report an unusual case of a brainstem abscess with a positive outcome in an immunocompetent patient who was treated with antibiotic therapy. CASE DESCRIPTION: A 22-year-old female presented with bilateral tetraparesis that was worse on the left hemibody, appendicular tremor, and left upper eyelid ptosis. Brain magnetic resonance imaging showed an abscess in the pons and midbrain due to possible nocardiosis. She was treated with dexamethasone, phenytoin, vancomycin, and meropenem for 8 weeks and trimethoprim-sulfamethoxazole for 6 weeks. The brain injury decreased, and the patient's neurological status significantly improved. CONCLUSION: Brainstem abscess may be treated conservatively, leading to improvement of the clinical condition and decreased lesion size on imaging.

Meningiomas: An Overview of the Landscape of Copy Number Alterations in Samples from an Admixed Population.

Meningiomas are considered the most common intracranial tumors, affecting mainly women. Studies in mixed populations can be of great importance to clarify issues related to the genetic diversity of tumors and their development. Considering that data obtained from analyses of the profile of copy number alterations (CNA) have been a useful diagnostic indicator for many types of tumors and that meningiomas show a complex pattern of gains and losses in the number of copies, our objective was to analyze the CNA profile in 33 samples of meningiomas of different histological grades (WHO Grade I-III) from patients in a city located in the Amazon region of Brazil, using aCGH. We found that the female to male ratio was 3 : 1. The aCGH analysis revealed a total of 2304 CNA, with an average of 69.8 ± 57.4 per case, of which 1197 were gains (52%), 926 were losses (40.2%), 105 were amplifications (4. 5%), and 76 were deletions (3.3%). A significant relationship was observed between the type of CNA and the degree of the tumor (chi-square test: χ 2 = 65,844; p < 0.0001; contingency coefficient: C = 0.1772; p < 0.0001). Evaluating the recurrent changes in at least 50% of the samples, we observe as the most frequent losses of the segments 22q13.1-q13.2 (82%), 1p35.3 (76%), and 14q13.1-q13.2 (67%), involving all histopathological grades. The analysis of these regions showed the inclusion of genes with functions such as regulation, maintenance of cell survival, reorganization of the cytoskeleton, cell signaling, and DNA repair, among others. However, overall, the profiles observed in meningiomas of this admixed population were very similar to the ones observed in Caucasian groups. An interesting finding was a recurrent gain of 8p22 observed only in grade I meningiomas, a region which includes DLC1, a suppressor candidate gene probably implicated in the developments or progression of meningiomas, usually found deleted, when related to CNAs.

Detection and Correlation of Single and Concomitant TP53, PTEN, and CDKN2A Alterations in Gliomas.

Gliomas are the most frequent primary tumors of central nervous system and represent a heterogeneous group of tumors that originates from the glial cells. TP53, PTEN, and CDKN2A are important tumor suppressor genes that encode proteins involved in sustaining cellular homeostasis by different signaling pathways. Though genetic alterations in these genes play a significant role in tumorigenesis, few studies are available regarding the incidence and relation of concomitant TP53, PTEN, and CDKN2A alterations in gliomas. The purpose of this study was to evaluate the occurrence of mutation and deletion in these genes, through single-strand conformational polymorphism, array-comparative genomic hybridization, and fluorescence in situ hybridization techniques, in 69 gliomas samples. Molecular results demonstrated a significant higher prevalence of TP53, PTEN, and CDKN2A alterations in astrocytoma than other tumor subtypes, and heterozygous deletion was the most frequent event. In addition, a significant association was observed between TP53 and CDKN2A alterations (p = 0.0424), which tend to coexist in low grade astrocytomas (5/46 cases (10.9%)), suggesting that they are early events in development of these tumors, and PTEN and CDKN2A deletions (p = 0.0022), which occurred concomitantly in 9/50 (18%) patients, with CDKN2A changes preceding PTEN deletions, present preferably in high-grade gliomas.

Expression Analysis of Genes Involved in the RB/E2F Pathway in Astrocytic Tumors.

Astrocytic gliomas, which are derived from glial cells, are considered the most common primary neoplasias of the central nervous system (CNS) and are histologically classified as low grade (I and II) or high grade (III and IV). Recent studies have shown that astrocytoma formation is the result of the deregulation of several pathways, including the RB/E2F pathway, which is commonly deregulated in various human cancers via genetic or epigenetic mechanisms. On the basis of the assumption that the study of the mechanisms controlling the INK4/ARF locus can help elucidate the molecular pathogenesis of astrocytic tumors, identify diagnostic and prognostic markers, and help select appropriate clinical treatments, the present study aimed to evaluate and compare methylation patterns using bisulfite sequencing PCR and evaluate the gene expression profile using real-time PCR in the genes CDKN2A, CDKN2B, CDC6, Bmi-1, CCND1, and RB1 in astrocytic tumors. Our results indicate that all the evaluated genes are not methylated independent of the tumor grade. However, the real-time PCR results indicate that these genes undergo progressive deregulation as a function of the tumor grade. In addition, the genes CDKN2A, CDKN2B, and RB1 were underexpressed, whereas CDC6, Bmi-1, and CCND1 were overexpressed; the increase in gene expression was significantly associated with decreased patient survival. Therefore, we propose that the evaluation of the expression levels of the genes involved in the RB/E2F pathway can be used in the monitoring of patients with astrocytomas in clinical practice and for the prognostic indication of disease progression.

Stereotactic radiosurgery for the treatment of Glomus Jugulare Tumors.

BACKGROUND: The glomus jugulare tumor is a slowly growing benign neoplasm originating from neural crest. There is a high morbidity associated with surgical resection of glomus jugulare. Radiosurgery play a relevant role as a therapeutic option in these tumors and its use has grown in popularity. The authors describe a retrospective series of 15 patients and reviewed the literature about the glomus jugulare tumors. METHODS: We reviewed retrospectively the data of 15 patients treated with stereotactic linear accelerator stereotactic radiosurgery (LINAC) radiosurgery between 2006 and 2011. RESULTS: The average tumor volume was 18.5 cm(3). The radiation dose to the tumor margin ranged between 12 and 20 Gy. The neurological status improved in three patients and remained unchanged in 12 patients. One patient developed a transient 7(th) nerve palsy that improved after clinical treatment. All tumors remained stable in size on follow-up with resonance magnetic images. CONCLUSIONS: The radiosurgery is a safe and effective therapy for patients with glomus jugulare tumor. Despite the short follow-up period and the limited number of patients analyzed, we can infer that radiosurgery produce a tumor growth control with low morbidity, and may be used as a good option to surgical resection in selected cases.

Neurocutaneous melanosis: hydrocephalus and intracranialhypertension - rare case

Objective: report a case of neurocutaneousmelanosis in Belém, Pará. Case report: a 13-yearsoldboy, with history 8 months later presented paroxistic absence recurrent seizures controlledwith carbamazepine. At three years old, the seizures became generalized type, associated tonistagmus and incipient apendicular ataxia. Until 11 years old, he had neurologic exam stable,without diagnostic, when presented persistent holocranial headache, nausea, morning vomit,oftalmoparesis type III pair lesion on the right and somnolence. At general exam, it was founduncountable melanocytic nevi in his dorsum, buttocks, left arm, thorax and right shoulder. MRIstudy was performed and suggested CNS melanicytic infiltration. The patient underwentventriculoperitoneal derivation and presented good evaluation, asymptomatic.Conclusion: theearly diagnostic is very important, considering the possibility to precocious neurosurgicalintervention, allowing the increase of survival in these patients.

Objetivo: relatar um caso de melanoseneurocutanea em Belém, Pará. Relato de caso:adolescente, 13 anos de idade, gênero masculino, com história de crises convulsivasparoxísticas, tipo ausência, recorrentes, controladas com uso de carbamazepina. Aos três anosde idade, as crises tornaram-se do tipo generalizada, associada com nistagmo e ataxiaapendicular incipiente. Até 11 anos de idade, o paciente teve quadro neurológico estável, semdiagnóstico, quando apresentou cefaléia persistente holocraniana, náusea, vômitos pela manhã,sonolência e oftalmoparesia por lesão do III par craniano à direita. No exame geral, foramencontrados incontáveis nevos melanocíticos no dorso, nádegas, braço esquerdo, tórax e ombrodireito. A RNM sugeriu infiltração melanocítica do SNC. O paciente foi submetido a derivaçãoventrículo-peritoneal e apresentou boa evolução, ficando assintomático após o procedimento.Conclusão: o diagnóstico precoce é muito importante, considerando a possibilidade deintervenção neurocirúrgica precoce, permitindo o aumento da sobrevida nesses pacientes

Comparative analysis of proliferative and genetic alterations in a primary chordoid meningioma and its recurrence using locus-specific probes and AgNOR.

Meningiomas are generally slow-growing benign tumours; however, recurrent cases are associated with a poor prognosis. As these tumours are commonly grouped according to their grade of malignancy, it is difficult to define tumour-specific alterations involved in their genesis and evolution. Genetic comparative studies of primary and recurrent tumours are important for the identification of the chromosomal, genetic and proliferative alterations that are possibly involved in the process of malignancy in this class of tumour. We performed interphase fluorescence in situ hybridization using region-specific probes comprising the genes MYCN, ERBB4, CDH1, ABR, ERBB2 and NF2 as well as AgNOR staining in a sample of primary and relapsed chordoid meningiomas. Significant differences were found in these samples regarding the genes NF2, MYCN, ABR and ERBB2. Cell proliferation levels also showed a significant difference. The results suggest the involvement of the MYCN gene in the evolution of meningiomas.