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1.
Zhonghua Yi Xue Za Zhi ; 100(3): 178-181, 2020 Jan 21.
Artigo em Chinês | MEDLINE | ID: mdl-32008282

RESUMO

Objective: To evaluate the classification of the types of pediatric posterior fossa brain tumors based on routine MRI (T(1)WI, T(2)WI and ADC) using wavelet transformation analysis of whole tumor. Methods: MRI images of medulloblastoma (n=59), ependymoma (n=13) and pilocytic astrocytoma (n=27) confirmed by pathology before treatments in Children's Hospital of Nanjing Medical University from January 2014 to February 2019 were enrolled in this retrospective study as well as the clinical data of age, gender and symptoms. Registration was performed among the three sequences and wavelet features of ROI were acquired. Afterwards, the top ten features were ranked and trained among groups by using random forest classifier. Finally, the results were compared and analyzed according to the classification. Results: The top ten contribution three sequences and wavelet features of ROI were acquired from the ADC sequence. The random forest classifier achieved 100% accuracy on training data and was validated best accuracy (86.8%) when combined of first and third wavelet features. The sensitivity was 100%, 94.8%, 76.9%, and the specificity was 97.6%, 88.0%, 98.8% respectively. Conclusions: Features based on wavelet transformation of ADC sequence of entire tumor can provide more quantitative information, which could provide help in the differential diagnosis of pediatric posterior fossa brain tumors. The optimum combination to distinguish three pediatric posterior fossa brain tumors is sixth and twelfth wavelet features of ADC sequence.


Assuntos
Astrocitoma/classificação , Neoplasias Cerebelares/patologia , Neoplasias Infratentoriais/patologia , Imagem por Ressonância Magnética/métodos , Meduloblastoma/classificação , Astrocitoma/patologia , Neoplasias Encefálicas/patologia , Criança , Humanos , Meduloblastoma/patologia , Estudos Retrospectivos
2.
Medicine (Baltimore) ; 99(3): e18880, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-32011515

RESUMO

INTRODUCTION: Pleomorphic xanthoastrocytomas (PXA) are rare, typically benign, slow-growing tumors that commonly occur in the cerebral hemispheres. We describe two cases of clinically aggressive PXA with uncommon locations; one was in the tectal plate, and the other had simultaneous multicentric lesions. PATIENT CONCERNS: The both cases presented with severe headache with no significant past medical history. DIAGNOSIS: PXA World Health Organization grade II were histopathologically diagnosed from surgically resected specimens, and immunohistochemical and sequence analysis revealed a high Ki-67 proliferative index and BRAF V600E mutation in both the cases. INTERVENTIONS: The first case presented with multicentric lesions and underwent partial resection, whereas the second case presented with a tectal plate tumor that was managed by gross total surgical resection. Strong 5-aminolevulinic acid (5-ALA)-induced fluorescence was observed in both the lesions. Postoperative radiotherapy plus concomitant and adjuvant temozolomide was administered to both the patients. OUTCOMES: Despite completing adjuvant chemo-radiotherapy, both the patients had local tumor recurrence at 2 and 5 months after the operation, respectively. CONCLUSION: The progressive clinical courses in our cases suggest that additional postoperative therapy should be considered during the treatment of PXA with a high Ki67 index, and that temozolomide with radiotherapy, followed by temozolomide maintenance therapy, may not prevent recurrence in such tumors. Importantly, our experience implies that unlike other subtypes of low grade gliomas, 5-ALA fluorescence is useful for intraoperative visualization of PXA.


Assuntos
Astrocitoma/patologia , Neoplasias Encefálicas/patologia , Astrocitoma/diagnóstico por imagem , Astrocitoma/genética , Astrocitoma/terapia , Neoplasias Encefálicas/diagnóstico por imagem , Neoplasias Encefálicas/genética , Neoplasias Encefálicas/terapia , Terapia Combinada , Diagnóstico Diferencial , Progressão da Doença , Feminino , Humanos , Antígeno Ki-67/genética , Pessoa de Meia-Idade , Gradação de Tumores , Recidiva Local de Neoplasia , Neoplasia Residual/diagnóstico por imagem , Neoplasia Residual/genética , Neoplasia Residual/terapia , Proteínas Proto-Oncogênicas B-raf/genética , Adulto Jovem
3.
World Neurosurg ; 133: 55, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31562962

RESUMO

Laughter has a major role in daily social interactions; consequently, its biologic bases have been previously studied. Nevertheless, its cerebral representation remains unclear. The most accepted hypothesis has postulated that laughter has 2 components: mirth, related to the temporal and frontal neocortical areas, and motor aspect, related to the limbic system and brainstem. Furthermore, in prior studies, laughter has been elicited during electric stimulation with depth electrodes in the supplementary motor area and the cingulum. This Video 1 reports resection of a right superior frontal gyrus diffuse astrocytoma (isocitrate dehydrogenase mutant, World Health Organization grade II) with awake intraoperative electric cortical and subcortical stimulation mapping. Diffusion tensor imaging (DTI) tractography, including all the tracts in relation to the tumor, was obtained preoperatively and postoperatively. Stimulation of the cingulum medially and inferiorly to the tumor elicited a patient's smile and laugh without mirth or merriment. Also, this point correlated with the reconstructed cingulum in the intraoperatively navigated DTI tractography. In conclusion, these findings support the anatomic subdivision of the laughter's mechanism and the role of the cingulum in its motor component. Furthermore, smiles and laughter could be useful functional landmarks to identify the cingulum during subcortical mapping. Although it remains unclear whether pursuing resection beyond this point would have caused permanent postoperative deficits, considering laughter's role in social interaction and other emotion-processing functions associated with the cingulum, in the future it could be potentially considered a functional limit of the resection of intrinsic tumors.


Assuntos
Astrocitoma/cirurgia , Neoplasias Encefálicas/cirurgia , Giro do Cíngulo/fisiopatologia , Riso/fisiologia , Sorriso/fisiologia , Astrocitoma/patologia , Astrocitoma/fisiopatologia , Mapeamento Encefálico , Neoplasias Encefálicas/patologia , Neoplasias Encefálicas/fisiopatologia , Estimulação Elétrica , Lobo Frontal/patologia , Lobo Frontal/fisiopatologia , Lobo Frontal/cirurgia , Humanos
4.
World Neurosurg ; 133: 413-415, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31336173

RESUMO

A 71-year-old woman presented to our institution with a 2-week history of concentric bilateral left accentuated visual field loss. Examination of her eyes including funduscopy was normal. A gadolinium-enhanced magnetic resonance tomography showed contrast enhancement of the optic pathway in the T1-weighted sequence that included both optic nerves, the optic chiasm, and the left optic tract. Differential diagnoses of this kind of lesion extending along the optic nerves include neurosarcoidosis, lymphoma, and glioma. The patient was treated with high-dose corticosteroids under the suspicion of neurosarcoidosis. During that time her vision deteriorated, resulting in amaurosis on her left eye and marginal peripheral vision on the right. A biopsy of the left optic nerve revealed a pilocytic astrocytoma, which to some extent contrasted the observed clinical course. After discussing the treatment options including radiotherapy and chemotherapy, the patient opted for supportive care and died 3 months later.


Assuntos
Astrocitoma/diagnóstico , Neoplasias do Nervo Óptico/diagnóstico , Nervo Óptico/patologia , Idoso , Astrocitoma/diagnóstico por imagem , Astrocitoma/patologia , Feminino , Humanos , Imagem por Ressonância Magnética , Nervo Óptico/diagnóstico por imagem , Neoplasias do Nervo Óptico/diagnóstico por imagem , Neoplasias do Nervo Óptico/patologia
5.
Clin Nucl Med ; 45(1): e67-e68, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31348082

RESUMO

A 17-year-old girl underwent an F-DOPA brain PET/CT on a new high-resolution digital SiPM PET/CT (Vision600 Siemens) to explore a suspicion of recurrence of a pilocytic astrocytoma. This study showed a local recurrence, but a second intense focal uptake was visible above, more intense than striata. On fused MRI, this was the pineal gland considered as physiological. This physiological uptake, due to a pineal DOPA decarboxylase activity, has also been observed with this PET system in other patients with F-DOPA to explore movement disorders. New high-resolution PET can show uptake of small structures by being less dependent to partial volume effect.


Assuntos
Di-Hidroxifenilalanina/análogos & derivados , Glândula Pineal/diagnóstico por imagem , Glândula Pineal/metabolismo , Tomografia Computadorizada com Tomografia por Emissão de Pósitrons , Adolescente , Astrocitoma/diagnóstico por imagem , Astrocitoma/patologia , Transporte Biológico , Di-Hidroxifenilalanina/metabolismo , Feminino , Humanos
6.
BMC Neurol ; 19(1): 296, 2019 Nov 23.
Artigo em Inglês | MEDLINE | ID: mdl-31759389

RESUMO

PURPOSE: Glioma is the most common primary malignant brain tumor with high mortality and poor prognosis. Our aim was to clarify the correlation between Kinase-anchored protein 6 (AKAP6) gene polymorphisms and glioma susceptibility and prognosis in Chinese Han population. METHODS: Five single-nucleotide polymorphisms (SNPs) of AKAP6 were genotyped by Agena MassARRAY in 575 glioma patients and 500 healthy controls. Logistic regression model was utilized to calculate odds ratios (OR) and 95% confidence intervals (CI). The associations between polymorphisms and survival were assessed using the log-rank test, Kaplan-Meier analysis and Cox regression model. RESULTS: We found that rs2239647 polymorphism was strongly associated with an increased risk of glioma (OR = 1.90, p = 0.007) and a worse prognosis for glioma, especially in high-grade glioma (HR = 1.67, p = 0.034). Stratified analysis showed that rs2239647 increased the risk of glioma in female (OR = 1.62, p = 0.016). Whereas, rs4261436 (HR = 0.70, p = 0.045) and rs17522122 (HR = 0.75, p = 0.016) were associated with better prognosis of astrocytoma. In addition, we also found that surgical methods and chemotherapy are critical factors for the prognosis of glioma patients. CONCLUSIONS: This study firstly provided evidence for the impact of AKAP6 polymorphisms on susceptibility and prognosis of glioma, suggesting AKAP6 variants might have potential roles in the etiology of glioma.


Assuntos
Proteínas de Ancoragem à Quinase A/genética , Neoplasias Encefálicas/genética , Predisposição Genética para Doença , Glioma/genética , Adulto , Grupo com Ancestrais do Continente Asiático/genética , Astrocitoma/patologia , Neoplasias Encefálicas/patologia , Estudos de Casos e Controles , Feminino , Genótipo , Glioma/patologia , Humanos , Estimativa de Kaplan-Meier , Masculino , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único , Prognóstico , Adulto Jovem
7.
World Neurosurg ; 132: 57, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31479784

RESUMO

Radiation-induced telangiectasia of the central nervous system has been described predominantly in children, with up to 20% of patients affected after 3-41 years of radiotherapy.1,2 We present the case of a 45-year-old male with a pontine pilocytic astrocytoma treated with standard-dose radiation for 6 weeks in 1993. He developed a 3-cm multicystic, hemorrhagic brainstem lesion but was asymptomatic. The lesion caused severe brainstem mass effect, compatible with cavernous malformation or capillary telangiectasia.3 It has been reported that cavernomas and capillary telangiectasias share a similar pathologic process.4,5 The patient was surgically treated with a supracerebellar infratentorial approach to diagnose the hemorrhagic component of the lesion and ensure there was no transformation of the pilocytic astrocytoma (Video 1). He was placed in a gravity-dependent supine position with the head flexed and turned to allow for natural relaxation of the cerebellum via gravity-a technique we previously described.6 Surgical treatment proceeded with a left suboccipital craniotomy to decompress the cyst and facilitate removal of the intraaxial lesion. We took care to avoid injuring the fourth and fifth cranial nerves and branches of the superior cerebellar artery. No further lesional tissue was seen in the resection cavity. Interestingly, the final pathologic diagnosis indicated a mix of both pilocytic astrocytoma and radiation-induced capillary telangiectasia. From the surgeon's perspective, capillary telangiectasias appear similar to cavernous malformations on gross inspection, so pathologic confirmation is essential. Postoperative imaging demonstrated total resection of the lesion. The patient was discharged on postoperative day 3 with no neurologic deficit.


Assuntos
Astrocitoma/radioterapia , Neoplasias do Tronco Encefálico/radioterapia , Malformações Vasculares do Sistema Nervoso Central/cirurgia , Ponte/cirurgia , Lesões por Radiação/cirurgia , Astrocitoma/patologia , Neoplasias do Tronco Encefálico/patologia , Malformações Vasculares do Sistema Nervoso Central/etiologia , Malformações Vasculares do Sistema Nervoso Central/patologia , Humanos , Masculino , Pessoa de Meia-Idade , Ponte/patologia , Lesões por Radiação/etiologia , Lesões por Radiação/patologia , Radioterapia/efeitos adversos
8.
World Neurosurg ; 131: e379-e391, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31369883

RESUMO

BACKGROUND: Pineal region tumors represent challenging surgical lesions with wide ranges of survival reported in different surgical series. In this article, we emphasize the role of complete microsurgical resection (CMR) to obtain a favorable long-term outcome of pineal region tumors. METHODS: We report a retrospective study of pineal region tumors operated on in Helsinki Neurosurgery between 1997 and 2015. Information was obtained from the hospital records, and an evaluation of the Finnish population register was conducted in July 2018 to determine the current status of the patients. RESULTS: A total of 76 pineal region tumors were operated on. The survival was 62% at a mean follow-up of 125 ± 105 months (range, 0-588 months), and the disease-related mortality was limited to 14 patients (18.4%). Up to July 2018, 29 patients had died. Two patients died 1 and 3 months after surgery of delayed thalamic infarctions, 12 patients of disease progression, and 15 had non-disease-related deaths. Only 1 patient was lost in the long-term follow-up. Ten of 14 disease-related deaths occurred during the first 5 years of follow-up: 5 diffuse gliomas, 3 germ cell tumors, 1 grade II-III pineal parenchymal tumor of intermediate differentiation, and 1 meningioma. CMR was linked to better tumor-free survival and long-term survival, with the exception of diffuse gliomas. CONCLUSIONS: CMR, in the setting of a multidisciplinary management of pineal region tumors, correlates with favorable survival and with minimal mortality. Surgically treated grade II-IV gliomas constitute a particular group with high mortality within the first 5 years independently of the microsurgical resection.


Assuntos
Neoplasias Encefálicas/cirurgia , Glioma/cirurgia , Neoplasias Meníngeas/cirurgia , Meningioma/cirurgia , Neoplasias Embrionárias de Células Germinativas/cirurgia , Glândula Pineal/cirurgia , Pinealoma/cirurgia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Astrocitoma/mortalidade , Astrocitoma/patologia , Astrocitoma/cirurgia , Neoplasias Encefálicas/mortalidade , Neoplasias Encefálicas/patologia , Quimioterapia Adjuvante , Criança , Pré-Escolar , Feminino , Finlândia , Glioma/mortalidade , Glioma/patologia , Humanos , Lactente , Masculino , Neoplasias Meníngeas/mortalidade , Neoplasias Meníngeas/patologia , Meningioma/mortalidade , Meningioma/patologia , Microcirurgia , Pessoa de Meia-Idade , Neoplasias Embrionárias de Células Germinativas/mortalidade , Neoplasias Embrionárias de Células Germinativas/patologia , Procedimentos Neurocirúrgicos , Glândula Pineal/patologia , Pinealoma/mortalidade , Pinealoma/patologia , Radioterapia Adjuvante , Estudos Retrospectivos , Sobrevida , Carga Tumoral , Adulto Jovem
9.
Br J Radiol ; 92(1103): 20190324, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31386559

RESUMO

OBJECTIVE: This study was to investigate the relationship of diffusion features with molecule information, and then predict grade and survival in lower-grade gliomas. METHODS: 65 patients with primary lower-grade gliomas (WHO Grade II & III) who underwent conventional MRI and diffusion tensor imaging were retrospectively studied. The tumor region was automatically segmented into contrast-enhancing tumor, non-enhancing tumor, edematous and necrotic volumes. Diffusion features, including fractional anisotropy (FA), axial diffusivity, radial diffusivity and apparent diffusion coefficient (ADC), were extracted from each volume using histogram analysis. To estimate molecule biomarkers and predict clinical characteristics of grade and survival, support vector machine, generalized linear model, logistic regression and Cox regression were performed on the related features. RESULTS: The diffusion features in non-enhancing tumor volume showed differences between isocitrate dehydrogenase mutant and wild-type gliomas. And the mean accuracy of support vector machine classifiers was 0.79. Ki-67 labeling index was correlated with these features, which were combined to significantly estimate Ki-67 expression level (r = 0.657, p < 0.001). These features also showed differences between Grade II and III gliomas. A combination of them for grade classification resulted in an area under the curve of 0.914 (0.857-0.971). Mean FA and fifth percentile of ADC were independently associated with overall survival, with lower FA and higher ADC showing better survival outcome. CONCLUSION: In lower-grade gliomas, multiparametric and multiregional diffusion features could help predict molecule information, histological grade and survival. ADVANCES IN KNOWLEDGE: The multi parametric diffusion features in non-enhancing tumor were associated with molecule information, grade and survival in lower-grade gliomas.


Assuntos
Astrocitoma/patologia , Neoplasias Encefálicas/patologia , Oligodendroglioma/patologia , Adulto , Idoso , Anisotropia , Astrocitoma/mortalidade , Neoplasias Encefálicas/mortalidade , Imagem de Tensor de Difusão/métodos , Estudos de Viabilidade , Feminino , Humanos , Antígeno Ki-67/metabolismo , Imagem por Ressonância Magnética/métodos , Masculino , Pessoa de Meia-Idade , Oligodendroglioma/mortalidade , Estudos Retrospectivos , Carga Tumoral , Adulto Jovem
10.
Indian J Cancer ; 56(3): 197-201, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31389380

RESUMO

BACKGROUND: Wilms' tumor 1 (WT1) mutation has recently been detected in gliomas. Growing data indicate that WT1 mutation plays a causal role in gliomagenesis and is overexpressed in most glioblastomas. An emerging immunotherapy targeting WT1 has shown to be effective in resistant glioblastomas in clinical trials. WT1 expression and its potential utility in various grades of astrocytomas is still unclear and needs further elucidation. The evaluation of WT1 can be done by molecular or immunohistochemical methods. As immunohistochemistry is easier with wider routine use, immunoexpression of this biomarker was studied. AIM: The aim of this study was to characterize WT1 immunoexpression across different histological grades of astrocytomas to routinely aid in diagnosis and reproducibility and to assess the association between WT1 and immunomarker isocitrate dehydrogenase (IDH1). MATERIAL AND METHODS: This was an observational prospective study on 79 cases of astrocytomas. RESULTS: Seventy-nine astrocytomas including 11 recurrent tumors were assessed for WT1 by immunohistochemistry. WT1 expression was detected in all astrocytomas (100%). The control group of reactive gliosis was negative. WT1 score correlated with histological tumor grades (P < 0.001) with higher score in higher grade. It was also observed that different tumor grades depicted two distinct expression patterns. WT1 score and pattern were valuable in differentiating high- and low-grade astrocytomas. CONCLUSION: This study supports the oncogenic role of WT1 in astrocytomas. WT1 was found to be valuable in distinguishing different grades of astrocytomas. WT1 can aid in differentiating neoplastic process from reactive gliosis, particularly in recurrent tumors. Higher expression in glioblastomas supports its immunotherapy potential.


Assuntos
Astrocitoma/classificação , Astrocitoma/patologia , Biomarcadores Tumorais/metabolismo , Imuno-Histoquímica/métodos , Recidiva Local de Neoplasia/patologia , Proteínas WT1/metabolismo , Astrocitoma/metabolismo , Estudos de Casos e Controles , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Gradação de Tumores , Recidiva Local de Neoplasia/metabolismo , Estudos Prospectivos
11.
Artif Cells Nanomed Biotechnol ; 47(1): 3485-3491, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31422717

RESUMO

Enterovirus 71 (EV71) which commonly caused the hand-foot-mouth disease (HFMD) has become one of public health challenges worldwide. However, no effective vaccines or drugs for this disease has been developed. Thus, there is an urgent need to find a new strategy for treating the EV71 infection. Oseltamivir (OT) is an effective antiviral agent, but continuous use of oseltamivir leads to a diminished therapeutic effect in the clinic. In order to improve the antiviral activity of oseltamivir, oseltamivir was loaded onto surfaces of selenium nanoparticles (SeNPs) to fabricate a functionalized antiviral nanoparticles SeNPs@OT. The size of SeNPs@OT was tested by TEM and dynamic light scattering. The chemical structure and elemental composition of SeNPs@OT were analyzed by FT-IR and EDX, respectively. SeNPs@OT exhibited good stability and effective drug release in serum and PBS. SeNPs@OT efficiently entered into human astrocyte U251 cells (host cells) via clathrin-associated endocytosis and inhibited EV71 proliferation, which could protect EV71-infected U251 cells from apoptosis through mitochondrial pathway. Furthermore, SeNPs@OT inhibited EV71 activity probably by reducing the generation of reactive oxygen species in EV71-infected U251 cells. Interestingly, SeNPs obviously enhanced antiviral activity of oseltamivir in the anti-EV71 cell model. Taken together, SeNPs@OT is a promising antiviral drug candidate for EV71 infection.


Assuntos
Astrocitoma/patologia , Enterovirus Humano A/efeitos dos fármacos , Nanopartículas/química , Oseltamivir/química , Oseltamivir/farmacologia , Selênio/química , Antivirais/efeitos adversos , Antivirais/química , Antivirais/farmacologia , Apoptose/efeitos dos fármacos , Linhagem Celular Tumoral , Sobrevivência Celular/efeitos dos fármacos , Endocitose/efeitos dos fármacos , Humanos , Oseltamivir/efeitos adversos , Espécies Reativas de Oxigênio/metabolismo
12.
Nat Commun ; 10(1): 3731, 2019 08 19.
Artigo em Inglês | MEDLINE | ID: mdl-31427603

RESUMO

Pilocytic astrocytoma (PA), the most common childhood brain tumor, is a low-grade glioma with a single driver BRAF rearrangement. Here, we perform scRNAseq in six PAs using methods that enabled detection of the rearrangement. When compared to higher-grade gliomas, a strikingly higher proportion of the PA cancer cells exhibit a differentiated, astrocyte-like phenotype. A smaller proportion of cells exhibit a progenitor-like phenotype with evidence of proliferation. These express a mitogen-activated protein kinase (MAPK) programme that was absent from higher-grade gliomas. Immune cells, especially microglia, comprise 40% of all cells in the PAs and account for differences in bulk expression profiles between tumor locations and subtypes. These data indicate that MAPK signaling is restricted to relatively undifferentiated cancer cells in PA, with implications for investigational therapies directed at this pathway.


Assuntos
Astrocitoma/genética , Astrocitoma/patologia , Neoplasias Encefálicas/patologia , Células-Tronco Neurais/citologia , Proteínas Proto-Oncogênicas B-raf/genética , Animais , Neoplasias Encefálicas/genética , Humanos , Sistema de Sinalização das MAP Quinases/genética , Camundongos , Microglia/patologia , Proteínas Quinases Ativadas por Mitógeno/genética , Proteínas Quinases Ativadas por Mitógeno/metabolismo , Oligodendroglia/citologia , Proteínas de Fusão Oncogênica/metabolismo , Células Tumorais Cultivadas
13.
J Clin Neurosci ; 70: 79-84, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31466905

RESUMO

PURPOSE: The present study aims to determine the tumor-related, clinical, and demographic factors associated with extent of resection (EOR) and post-operative outcomes in JPA patients. METHODS: All patients with JPA, identified from a single-center brain tumour data base, were included in this retrospective analysis. Pre-operative MRI scans were reviewed by a single neurosurgeon blinded to the EOR. JPA cases that exhibited no residual tumor post-operatively were assigned to the GTR group, all other tumors were assigned to the

Assuntos
Astrocitoma/cirurgia , Neoplasias Encefálicas/cirurgia , Procedimentos Neurocirúrgicos/métodos , Adolescente , Astrocitoma/patologia , Neoplasias Encefálicas/patologia , Criança , Pré-Escolar , Estudos de Coortes , Feminino , Humanos , Lactente , Masculino , Neoplasia Residual/patologia , Procedimentos Neurocirúrgicos/efeitos adversos , Estudos Retrospectivos , Resultado do Tratamento
14.
World Neurosurg ; 130: 386-390, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31295593

RESUMO

BACKGROUND: Pleomorphic xanthoastrocytomas (PXAs) are a rare type of astrocytoma, which, similar to other gliomas, can rarely arise from glial nests in the meninges, manifesting as an extra-axial mass. We describe a solitary extra-axial intracranial primary meningeal PXA in the pediatric age group, which was masquerading as a tentorial meningioma. CASE DESCRIPTION: A 9-year-old girl presented with features of raised intracranial pressure. Imaging revealed a dural-based mass in the tentorial region suggestive of a meningioma. This suspicion was further strengthened by intraoperative visualization of an extra-axial tumor with wide tentorial attachment. Near-total excision was achieved. Histopathologic examination established the diagnosis of PXA. Given the tumor's apparent meningeal origin and lack of connection with brain parenchyma in imaging and intraoperative findings, primary meningeal PXA was diagnosed. The absence of coexisting tumor foci on spinal magnetic resonance imaging further refined the diagnosis as solitary extra-axial intracranial primary meningeal PXA. The patient received radiotherapy for the residual tumor and was doing well at 6 months after presentation; however, she was lost to follow-up after that. CONCLUSIONS: Solitary extra-axial intracranial primary meningeal PXA is an extremely rare entity with only 3 reported cases in the literature including the present case. This is the first report of such a tumor in a pediatric patient. This report also highlights that primary meningeal PXA can manifest as an extra-axial mass lesion and may warrant inclusion in the differential diagnosis of extra-axial mass lesions.


Assuntos
Astrocitoma/cirurgia , Neoplasias Meníngeas/cirurgia , Astrocitoma/patologia , Astrocitoma/radioterapia , Criança , Craniotomia/métodos , Feminino , Humanos , Imagem por Ressonância Magnética , Neoplasias Meníngeas/patologia , Neoplasias Meníngeas/radioterapia , Neoplasia Residual/radioterapia , Doenças Raras
15.
Brain Tumor Pathol ; 36(4): 135-143, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31324999

RESUMO

The genetic features of isocitrate dehydrogenase-wild-type (IDH-wt) lower-grade gliomas (LGGs; World Health Organization grades II and III) are not well defined. This study analyzed the genetic and other features of IDH-wt LGGs to develop a subclassification that can be used to predict their prognosis. Clinical, histopathological, and genetic features of 35 cases of diffuse IDH-wt astrocytoma and IDH-wt anaplastic astrocytoma were analyzed. The following genetic factors were examined: mutations of B-rapidly accelerated fibrosarcoma, telomerase reverse transcriptase promoter (TERTp), histone 3 family 3A, and alpha-thalassemia/mental retardation syndrome, X-linked; and copy number aberrations. In the univariate analysis, the following factors were associated with poor overall survival (OS): the histopathological diagnosis, TERTp mutation, the gain of chromosome 7 (+ 7), and the loss of chromosome 10q (- 10q). In the multivariate analysis, + 7, - 10q, and TERTp mutation were independent prognostic factors associated with poor OS. The median OS was significantly worse for patients who harbored at least one of these factors than for those without any of them (18.5 vs. 54.5 months, P = 0.002). The subclassification of IDH-wt LGGs according to the genetic factors + 7, - 10q, and TERTp mutation is potentially useful for predicting the prognosis.


Assuntos
Glioma/genética , Glioma/patologia , Isocitrato Desidrogenase/genética , Adulto , Idoso , Astrocitoma/genética , Astrocitoma/patologia , Neoplasias Encefálicas/patologia , Metilases de Modificação do DNA/genética , Feminino , Glioma/metabolismo , Histonas/genética , Humanos , Isocitrato Desidrogenase/metabolismo , Japão , Masculino , Pessoa de Meia-Idade , Mutação , Prognóstico , Regiões Promotoras Genéticas/genética , Telomerase/genética , Talassemia alfa/genética
16.
Mol Med Rep ; 20(3): 2227-2235, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31322210

RESUMO

Elevated plasma homocysteine (Hcy), known as hyperhomocysteinemia (HHcy), is an independent risk factor for neurodegenerative diseases. Hcy, even at a low concentration, can promote free radical formation and increase oxidative stress, leading to neuronal death, which may be an important mechanism underlying the pathogenesis of neurodegenerative diseases. Although several reports have indicated that the nuclear translocation of glyceraldehyde 3­phosphate dehydrogenase (GAPDH) may be involved in Hcy­induced apoptosis, the exact mechanism remains to be fully elucidated. The siah E3 ubiquitin protein ligase 1 (siah­1) gene was found to be critical for the translocation of GAPDH from the cytoplasm to the nucleus. In the present study, the role of siah­1 was investigated in the nuclear translocation of GAPDH in rat C6 astroglioma cells treated with Hcy. C6 cells were treated with various concentrations of Hcy for 48 h and the expression level of siah­1 was examined using reverse transcription­quantitative polymerase chain reaction and western blotting analysis. In addition, the subcellular localization of siah­1 and GAPDH and the interaction between these two factors were investigated by immunofluorescence staining and co­immunoprecipitation assay, respectively. The results showed that Hcy at a high concentration increased the expression of siah­1 and induced nuclear translocation of siah­1 and GAPDH. In addition, siah­1 knockdown by siah­1 small interfering RNA significantly decreased the Hcy­induced nuclear accumulation of GAPDH and inhibited the impairment of C6 cells. These findings suggest that siah­1 is involved in Hcy­induced cell damage by promoting the nuclear translocation of GAPDH.


Assuntos
Astrocitoma/metabolismo , Núcleo Celular/metabolismo , Gliceraldeído-3-Fosfato Desidrogenases/metabolismo , Homocisteína/metabolismo , Proteínas Nucleares/metabolismo , Ubiquitina-Proteína Ligases/metabolismo , Transporte Ativo do Núcleo Celular , Animais , Astrocitoma/patologia , Linhagem Celular Tumoral , Ratos
17.
Clin Nucl Med ; 44(10): e581-e582, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31348085

RESUMO

A variety of neoplastic and nonneoplastic conditions involve the corpus callosum, which may result in a "butterfly" appearance on conventional MRI. Typically, that pattern shows a bilateral and heterogeneous contrast enhancement of the lesion, occasionally with central nonenhancing areas indicating intralesional necrosis. In contrast, anaplastic gliomas may show only minimal or even a lack of contrast enhancement on MRI. We here report neuroimaging findings in a 69-year-old man with a "butterfly" pattern on dynamic FET [O-(2-[F]-fluoroethyl)-L-tyrosine] PET and the diagnosis of an anaplastic astrocytoma (WHO grade III; IDH-1/-2 wildtype, no 1p/19q co-deletion) but without typical MRI contrast enhancement.


Assuntos
Astrocitoma/diagnóstico por imagem , Astrocitoma/enzimologia , Neoplasias Encefálicas/diagnóstico por imagem , Neoplasias Encefálicas/enzimologia , Isocitrato Desidrogenase/metabolismo , Tomografia por Emissão de Pósitrons , Tirosina/análogos & derivados , Idoso , Astrocitoma/genética , Astrocitoma/patologia , Neoplasias Encefálicas/genética , Neoplasias Encefálicas/patologia , Humanos , Isocitrato Desidrogenase/genética , Imagem por Ressonância Magnética , Masculino
18.
Brain Tumor Pathol ; 36(4): 169-173, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31350684

RESUMO

Here, we report a rare case of anaplastic pleomorphic xanthoastrocytoma (PXA) associated with an H3G34 mutation. A 12-year-old male presented with loss of appetite, vomiting, headache, and a generalized seizure, and CT revealed a 9.0 cm left frontal lobe mass with some septal walls and a localized high-density area suggestive of hemorrhage or calcification, causing severe midline shift. He emergently underwent subtotal resection and the tumor was morphologically diagnosed as anaplastic PXA. DNA sequencing identified an H3F3A G34R mutation and a TP53 R273H mutation, and immunohistochemically, ATRX nuclear expression was lost. In CNS tumors, H3G34 mutations are essentially detected in glioblastoma (GBM) or central nervous system primitive neuroectodermal tumors. Those tumors most likely comprise a single biological entity (high-grade glioma with H3G34 mutation) because of no significant difference in molecular profiling and prognosis between GBM and PNET morphologies. To our knowledge, our present case is the first one of anaplastic PXA associated with an H3G34 mutation, and whether it biologically corresponds to "high-grade glioma with H3G34 mutation" needs further studies.


Assuntos
Astrocitoma/genética , Astrocitoma/patologia , Biomarcadores Tumorais/genética , Neoplasias Encefálicas/patologia , Neoplasias do Sistema Nervoso Central/genética , Neoplasias do Sistema Nervoso Central/patologia , Criança , Glioblastoma/genética , Glioma/genética , Humanos , Masculino , Mutação , Prognóstico
19.
J Clin Neurosci ; 68: 338-341, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31358429

RESUMO

Opisthotonus as a presenting feature in neurosurgical patients is rare, with few reports describing such presentations. Only four reports of opisthotonos secondary to posterior fossa mass were identified. An unclear pathophysiology, and broad aetiology contribute to clinical misdirection. While posterior fossa lesions commonly present with signs of raised intracranial pressure, or cerebellar dysfunction, this case describes the presentation of an infant with opisthotonic posturing, ataxia and autonomic dysfunction secondary to a large pilocytic astrocytoma. Despite initial treatment of hydrocephalus, opisthotonus only resolved with complete surgical resection of the posterior fossa mass. At follow-up, the child remains well and without signs of hypertonicity or other signs or symptoms. Presentations involving opisthotonus are rare, and active exclusion of posterior fossa pathology is necessary. In this case, urgent surgical resection allowed for a positive patient outcome. Description of such a case may contribute to understanding of similar presentations in the neurosurgical context.


Assuntos
Astrocitoma/complicações , Estado de Descerebração/etiologia , Neoplasias Infratentoriais/complicações , Astrocitoma/patologia , Astrocitoma/cirurgia , Humanos , Lactente , Neoplasias Infratentoriais/patologia , Neoplasias Infratentoriais/cirurgia
20.
PLoS One ; 14(7): e0220146, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31329636

RESUMO

Microvascular proliferation (MVP), an aberrant vascular structure containing multilayered mitotically active endothelial- and smooth-muscle cells/pericytes, is a histopathological hallmark of glioblastoma multiforme (GBM). Although MVP tends to be associated with high-grade glioma, it has also been detected in WHO grade I pilocytic astrocytoma (PA). However, little is known about the mechanism underlying its formation. Using TP53 point mutations as a marker for tumor-derived cells, we earlier reported that MVP was partially converted from tumor cells via mesenchymal transition. In the current study we used the KIAA1549-BRAF fusion gene as a marker to assess whether MVPs in PA contained tumor-derived cells and/or phenotypically distinct tumor cells expressing vascular markers. cDNA synthesized from frozen tissue of six PA patients operated at our institute was analyzed to detect the KIAA1549-BRAF fusion gene by reverse transcription polymerase chain reaction (RT-PCR) assay. The breakpoint in the fusion gene was identified by long and accurate PCR (LA-PCR) and Sanger sequencing of genomic DNA. Distinct tumor cells and cellular components of MVP were obtained by laser microdissection. For the qualitative and quantitative detection of the KIAA1549-BRAF fusion gene we performed genomic and digital PCR assays. Fluorescence in situ hybridization (FISH) was used to assess gene fusion in cellular components of MVP. Samples from three PA patients harbored the KIAA1549 exon 15, BRAF exon 9 fusion gene. In two patient samples with abundant MVP, RT-PCR assay detected strong bands arising from the KIAA1549-BRAF fusion gene in both tumor cells and cellular components of MVP. Digital PCR showed that vis-à-vis tumor tissue, its relative expression in cellular components of MVP was 42% in one- and 76% in another sample. FISH revealed amplified signals in both tumor cells and cellular components of MVP indicative of tandem duplication. Our findings suggest that in patients with PA, some cellular components of MVP contained tumor derived cell and/or phenotypically distinct tumor cells expressing vascular markers.


Assuntos
Astrocitoma/genética , Biomarcadores Tumorais/genética , Neoplasias Encefálicas/genética , Microvasos/metabolismo , Proteínas de Fusão Oncogênica/genética , Adolescente , Adulto , Astrocitoma/patologia , Biomarcadores Tumorais/metabolismo , Neoplasias Encefálicas/patologia , Criança , Pré-Escolar , Endotélio Vascular/metabolismo , Endotélio Vascular/patologia , Feminino , Humanos , Masculino , Microvasos/patologia , Miócitos de Músculo Liso/metabolismo , Miócitos de Músculo Liso/patologia , Proteínas de Fusão Oncogênica/metabolismo
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