A rare case of intraventricular gangliocytoma Corrêa, João Antonio Pessôa; Diniz, Lucas Teixeira; Stavale, João Norberto ...
Arquivos de neuro-psiquiatria,
01/2022, Letnik:
80, Številka:
1
Journal Article
Recenzirano
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Pessoa Correa et al present a rare case of intraventricular gangliocytoma. A 49-year-old man presented to the emergency department after cranioencephalic trauma with an intraventricular tumor ...detected in the computed tomography (CT) scan. An magnetic resonance image (MRI) showed a heterogeneous expansive lesion with enhancing solid components and peripheral cysts located in the left lateral ventricle. The patient underwent excision of the lesion. Histopathologic and immunohistochemical analysis revealed the diagnosis of gangliocytoma. Gangliocytomas are rare low-grade central nervous system tumors composed of dysplastic ganglion cells, usually presenting in children or young adults and located in the cerebral hemispheres. Until now, there are no case reports of intraventricular gangliocytoma.
Pilocytic astrocytomas are the primary tumors most frequently found in children and adolescents, accounting for approximately 15.6% of all brain tumors and 5.4% of all gliomas. They are mostly found ...in infratentorial structures such as the cerebellum and in midline cerebral structures such as the optic nerve, hypothalamus, and brain stem. The present study aimed to list the main characteristics about this tumor, to better understand the diagnosis and treatment of these patients, and was conducted on search of the published studies available in NCBI, PubMed, MEDLINE, Scielo, and Google Scholar. It was possible to define the main histologic findings observed in these cases, such as mitoses, necrosis, and Rosenthal fibers. We described the locations usually most affected by tumor development, and this was associated with the most frequent clinical features. The comparison between the molecular diagnostic methods showed great use of fluorescent in situ hybridization, polymerase chain reaction (PCR), and reverse transcriptase–PCR, important techniques for the detection of BRAF V600E mutation and BRAF-KIAA1549 fusion, characteristic molecular alterations in pilocytic astrocytomas.
Cancer patients in general and glioblastoma patients, in particular, have an increased risk of developing complications from the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), and ...reaching a balance between the risk of exposure to infection and the clinical benefit of their treatment is ideal. The aggressive behavior of this group of tumors justifies the need for a multidisciplinary team to assist in clinical decisions during the current pandemic. Brazil is now ranked #2 in the number of cases and deaths from COVID-19 pandemic, and existing disparities in the treatment of neuro-oncology patients in Brazil will challenge the clinical and surgical decisions of this population, possibly affecting global survival.
To search the literature about the management of glioblastomas during COVID-19 pandemic to guide surgical and clinical decisions in this population of patients in Brazil.
We performed a systematic search on the PubMed electronic database targeting consensus statements concerning glioblastoma approaches during COVID-19 pandemic up to July 18, 2020.
When approaching glioblastoma during the COVID-19 pandemic, important parameters that help in the decision-making process are age, performance status, tumor molecular profile, and patient consent. Younger patients should follow the standard protocol after maximal safe resection, mainly those with MGMT methylated tumors. Aged and underperforming patients should be carefully evaluated, and probably a monotherapy scheme is to be considered. Centers are advised to engage in telemedicine and to elaborate means to reduce local infection.
Approaching glioblastoma during the COVID-19 pandemic will be challenging worldwide, but particularly in Brazil, where a significant inequality of healthcare exists.
Medulloblastoma (MB) is the most prevalent malignant brain tumor in children, known for its heterogeneity and treatment-associated toxicity, and there is a critical need for new therapeutic targets. ...We analyzed the somatic mutation profile of 15 driver genes in 69 Latin-Iberian molecularly characterized medulloblastomas using the Illumina TruSight Tumor 15 panel. We classified the variants based on their clinical impact and oncogenicity. Among the patients, 66.7% were MB
, 13.0% MB
, 7.3% MB
, and 13.0% MB
. Among the 63 variants found, 54% were classified as Tier I/II and 31.7% as oncogenic/likely oncogenic. We observed 33.3% of cases harboring at least one mutation. TP53 (23.2%, 16/69) was the most mutated gene, followed by PIK3CA (5.8%, 4/69), KIT (4.3%, 3/69), PDGFRA (2.9%, 2/69), EGFR (1.4%, 1/69), ERBB2 (1.4%, 1/69), and NRAS (1.4%, 1/69). Approximately 41% of MB
tumors exhibited mutations, TP53 (32.6%) being the most frequently mutated gene. Tier I/II and oncogenic/likely oncogenic TP53 variants were associated with relapse, progression, and lower survival rates. Potentially actionable variants in the PIK3CA and KIT genes were identified. Latin-Iberian medulloblastomas, particularly the MB
, exhibit higher mutation frequencies than other populations. We corroborate the TP53 mutation status as an important prognostic factor, while PIK3CA and KIT are potential therapeutic targets.
Fulminant toxoplasmosis presenting as isolated myelitis Bocca, Leonardo Favi; Silva, Alexandre Israel Kochi; Kiffer, Carlos Roberto Veiga ...
Arquivos de neuro-psiquiatria,
12/2019, Letnik:
77, Številka:
12
Journal Article
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A 29-year-old male patient with an untreated HIV infection for seven years presented with a two-month history of neck pain, progressive left-hand weakness and numbness. Physical examination showed ...C5-C6 territory hypoesthesia and urinary bladder retention. A spinal MRI showed a single contrast-enhanced lesion at C4-C6 level, cerebrospinal fluid analysis showed 3.6 white blood cells-mm3 and a positive IgG for toxoplasma. Despite empiric treatment, the disease progressed locally and to the brainstem. Autopsy showed disseminated CNS toxoplasmosis. Toxoplasmosis is the most common CNS infection in patients with AIDS, but isolated spinal cord involvement is rare. Prompt empiric treatment for toxoplasmosis should be considered in all patients.
Neurological Patients during the Covid-19 Pandemic Salles, Débora; Santino, Samara Ferreira; Malinverni, Andréa Cristina de Moraes ...
Arquivos Brasileiros de Neurocirurgia: Brazilian Neurosurgery,
03/2023, Letnik:
42, Številka:
1
Journal Article
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Abstract
With the current pandemic caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), measures of social isolation were necessary, and this resulted in the interruption of ...several treatments. Regarding neuro-oncological patients, especially those with central nervous system (CNS) disorders, this interruption can cause serious damage or even compromise the success of the treatment in the future. It is essential that each case be evaluated separately to decide how to continue treatment during the pandemic, always considering the risk of SARS-CoV-2 infection and the benefits that the treatment will bring. The policy of not prescribing potentially toxic drugs, chemotherapy, and immunosuppressive therapies, as well as the use of techniques like stereotactic biopsy and telemedicine are important strategies at this time.
Medulloblastoma is the most frequent malignant brain tumor in children, representing 20% of all childhood brain tumors. Currently, medulloblastomas are molecularly classified in 4 subgroups that are ...associated with distinctive clinicopathological features. KBTBD4 mutations were recently described in a subset of MBGRP3 and MBGRP4 medulloblastomas subgroups. However, no other studies reported KBTBD4 mutations in medulloblastomas. Thus, our aim was to investigate KBTBD4 mutations in a Brazilian series of medulloblastoma. We evaluated 128 medulloblastoma patients molecularly classified from 4 Brazilian reference centers. DNA from formalin-fixed, paraffin-embedded samples was screened for KBTBD4 hotspot mutations by Sanger sequencing. Most of the patients were male, average age was 16.5 years old and average overall survival was 55.9 months. The predominant histological subtype was the classic subtype, followed by nodular/desmoplastic, and the predominant medulloblastoma molecular subtype was the MBSHH subgroup (46%), followed by MBGRP3 and MBGRP4 (19%/each), and MBWNT (16%). Among the 128 samples, 111 were successfully sequenced. No KBTBD4 mutations were identified in 111 samples. Our findings suggest that KBTBD4 mutations are uncommon in Brazilian MBGRP3 and MBGRP4 medulloblastomas subgroups. Further studies in a larger series of MBGRP3 and MBGRP4 medulloblastomas are warranted to better assess role of KBTBD4 mutations.
Adult Pilocytic Astrocytomas: A Brazilian Series Boschetti, Gabriela; Santos, Adrialdo Jose; Fermon, Kellen Paiva ...
World neurosurgery,
January 2020, 2020-Jan, 2020-01-00, 20200101, Letnik:
133
Journal Article
Recenzirano
Pilocytic astrocytoma (PA) is rare in adults comprising 5.1% of the primary central nervous system tumors. The aim is to describe the first Brazilian series of adult patients with PA and compare its ...features with the available literature.
We retrospectively review all patients 18 years or older with PA from our institution's database from 1991 to 2018. We analyzed information regarding clinical presentation, location, imaging features, extent of resection, adjuvant treatments, and follow-up.
Twenty-three patients with PA were analyzed: 60.9% male; median age 26 years. The most frequent symptoms were headache (34.8%) and seizure (26.1%). Temporal and parietal lobes were the most common locations, 21.7% each. All patients underwent a surgical procedure, gross total resection in 40.9%, subtotal resection in 22.7%, and biopsy in 27.3%. Adjuvant treatment with radiotherapy was performed in 2 patients. Only 4 patients had disease progression, 2 after gross total resection and 2 after subtotal resection. They were all alive and without evidence of new progression at the last follow-up (October 2018). Median overall survival was not reached after a median follow-up time of 88.9 months.
This is the first Brazilian series regarding adults with PA, and our patients had a favorable outcome as reported in recent literature reviews. The tumor's prevalence reduces within older patients and supratentorial lesions are more frequent, especially on the temporal lobe. There was no significant relationship between location and progression, although according to the literature the extent of resection remains the most important prognostic factor.
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