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Background: Glioblastoma (GB) is the most common and aggressive malignant brain tumor in adults. Extracranial metastases are very rare, been described in the lungs, soft tissue, or the intraspinal space. Case Description: Through a PubMed-based bibliographic search, the authors reviewed the cases reported in the literature to date, emphasizing the epidemiology and pathophysiology of this rare condition. A clinical case of a 46-year-old man with an initial diagnosis of gliosarcoma, who received complete surgical and adjuvant treatment and later recurred as GB with incidental finding of a lung tumor, whose pathology reported metastasis of the primary, is illustrated. Conclusion: Understanding the pathophysiology, it is likely that the incidence of extraneural metastases may continue to increase. Considering improvements in diagnostic techniques that allow early diagnosis, as well as advances in neurosurgical therapy and multimodal management with the aim of improving patient survival, the period in which malignant cells can spread and form extracranial metastases could increase. When screening should be performed to detect metastases in these patients is still not clear. The neuro-oncologists should pay attention to the systematic survey for extraneural metastasis of the GB. Timely detection and early treatment improve overall quality of patients' life.

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Herein, we present a rare case of a nine-month-old boy diagnosed with infant-type hemispheric glioma (gliosarcoma subtype) at the left frontal lobe. Following subtotal resection, the patient started chemotherapy with the BABY POG protocol. We describe the clinical diagnosis, histological characteristics, radiological features, molecular aspects, and management of this tumor. A comprehensive molecular analysis on the tumor tissue showed a TPR-NTRK1 gene fusion. The patient was treated with a TRK inhibitor, larotrectinib, and exhibited a stable disease with residual lesion following 8 months of target therapy. The present study is the first report of an infantile gliosarcoma harboring NTRK1 rearrangement treated with larotrectinib.

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Gliosarcoma is a highly aggressive malignant neoplasm and a histopathological variant of wild-type glioblastoma multiforme isocitrate dehydrogenase (HDI). The current standard treatment consists of chemotherapy, radiotherapy and surgical resection, however, despite advances in these techniques, the patient's prognosis remains unfavorable. Photodynamic therapy (PDT) is a noninvasive technique that has been highlighted as an alternative form of cancer treatment because it does not present the side effects associated with systemic treatments. The objective of this study was to evaluate the cell viability and the intracellular localization of photosensitizer (PS) chlorin e6 Fotoenticine in 9L/lacZ cells. Therefore, tests of cytotoxicity, morphology, and location of PS were performed. The viability test showed no cytotoxicity in the dark at all concentrations and 100 % cell death at the highest concentrations after PDT. The mitochondrial activity test showed a reduction in all groups after PDT. The production of reactive oxygen species (ROS) was higher in the PDT groups and dependent on the PS concentration. Morphological analysis after PDT showed apparent cytoplasmic destruction in all the tested concentrations, with the presence of rounded cells due to the loss of their extensions and absence of nuclear alterations. The PS accumulation in the mitochondria and cytoskeleton was observed by the confocal microscopy; however, there is no evidence of its internalization in the lysosomes. It was concluded that PDT with Fotoenticine is a promising alternative therapy showing decreased cell viability, increased ROS production and adequate localization to trigger cell death.

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Abstract Background: Central nervous system (CNS) gliosarcoma (GSM) is a rare primary neoplasm characterized by the presence of glial and sarcomatous components. Objective: In this report, we describe the clinical and neuroimaging aspects of three cases of GSM and correlate these aspects with pathological findings. We also provide a brief review of relevant literature. Methods: Three patients were evaluated with magnetic resonance imaging (MRI), and biopsies confirmed the diagnosis of primary GSM, without previous radiotherapy. Results: The analysis of conventional sequences (T1, T1 after contrast injection, T2, Fluid attenuation inversion recovery, SWI and DWI/ADC map) and advanced (proton 1H MR spectroscopy and perfusion) revealed an irregular, necrotic aspect of the lesion, peritumoral edema/infiltration and isointensity of the solid component on a T2-weighted image. These features were associated with irregular and peripheral contrast enhancement, lipid and lactate peaks, increased choline and creatine levels in proton spectroscopy, increased relative cerebral blood volume (rCBV) in perfusion, multifocality and drop metastasis in one of the cases. Conclusion: These findings are discussed in relation to the general characteristics of GSM reported in the literature.

Resumo Introdução: O gliossarcoma (GSM) do sistema nervoso central (SNC) é uma neoplasia primária rara, caracterizada pela presença de componentes gliais e sarcomatosos. Objetivo: Nosso objetivo é descrever os aspectos clínicos e de neuroimagem de três casos com este diagnóstico e correlacioná-los com os achados patológicos. Também foi realizada uma breve revisão da literatura relevante. Métodos: Três pacientes foram avaliados por ressonância magnética (RM), e biópsias confirmaram o diagnóstico de GSM primário, sem radioterapia prévia. Resultados: Foram analisadas as sequências convencionais (T1, T1 após injeção de contraste, T2, FLAIR-fluid attenuation inversion recovery, SWI, DWI/mapa ADC) e as sequências avançadas (espectroscopia de prótons 1H e perfusão), observando-se aspecto necrótico e irregular da lesão, edema/infiltração peritumoral, isointensidade do componente sólido em T2, associada a realce irregular e periférico pelo meio de contraste, pico de lípides e de lactato e aumento dos níveis de colina e creatina na espectroscopia de prótons, aumento do volume sanguíneo cerebral relativo (rCBV) na perfusão, multifocalidade e "drop" mestástase em um dos casos. Conclusão: O presente estudo descreve características do GSM, discutindo as informações na literatura científica, ilustrando algumas particularidades desses tumores.

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BACKGROUND: Gliosarcoma (GS) is classified as an IDH-wild-type variant of glioblastoma (GBM). While GS is already an unusual presentation of GBM, IDH1-mutant cases are especially rare. We present an IDH1-mutant primary intraventricular GS case report and a systematic review of the molecular profile in GS correlating to the prognostic and pathogenesis of IDH1/2 mutations. CASE DESCRIPTION: A 44-years-old man presented with ongoing fatigue symptoms and a new-onset intense occipital headache. The patient complained of memory loss, dyscalculia, and concentration difficulties. An MRI revealed a bihemispheric intraventricular mass crossing the midline through the corpus callosum and infiltrating the trigone of the lateral ventricles, hypointense, and hyperintense on the T1- and T2-weighted image. We performed a microsurgical resection with a transparietal transsulcal approach; however, the contralateral mass was attached to vascular structures and we decided to reoperate the patient in another moment. The histopathological study showed a Grade IV tumor and the immunohistochemistry confirmed the diagnosis of GS. The patient presented progressive neurologic decline and died 45 days after the surgical approach. CONCLUSION: We did two systematic reviews studies from PubMed, EMBASE, MEDLINE, Cochrane, and SCOPUS databases, and included molecular and intraventricular studies of GS. We performed further meta-analysis using OpenMetaAnalyst™ software. We conducted a forest plot with the molecular profile of GS. When correlated IDH1 mutation versus tp53 mutation, we found an odds ratio (OR) of 0.018 (0.005-0.064) and P < 0.001. Moreover, we compared IDH1 mutation versus MGMT methylation (P = 0.006; OR = 0.138 [0.034-0.562]). The studies evaluating the molecular profile in GS prognostics are often extended from all GBMs despite specifics GBM variants (i.e., GS). We found a correlation between IDH1 mutation expression with tp53 and MGMT expression in GS, and future studies exploring this molecular profile in GS are strongly encouraged.

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The purpose of this paper is to report a rare case of a pediatric pineal gliosarcoma. Gliomas on the pineal region are uncommon, representing 0.4%-1% of all brain tumors. Furthermore, pediatric gliosarcomas are a very rare entity. We present a case of a 5-year-old girl, with a history of headache, vomiting, diplopia, and gait disturbances. A pineal tumor was found with pathology results consistent with a gliosarcoma. A total of 25 cases of pediatric gliosarcomas have been reported, none of them in pineal topography. Only 3 gliosarcomas were found in the pineal region, but these were found in adults. To our knowledge, this is the first pediatric pineal gliosarcoma reported in the literature.

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ABSTRACT Introduction: Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder that has variable phenotypic expressivity, with manifestations ranging from cutaneous lesions to functional compromise. It manifests clinically during childhood and adolescence. The NF-1 gene encodes a protein, neurofibromin gene, which acts as a tumor suppressor under normal conditions by regulating another protein that stimulates cell growth and proliferation. In case of alteration, different tumor processes may occur, such as the one seen in a small number of cases. Case presentation: 20-year-old male patient with NF1, who presented café-au-lait spots and developed a glioblastoma, which happens infrequently. Discussion: Immunohistochemistry methods that contribute greatly to prognosis are included to achieve the confirmed diagnosis since the median overall survival of glioblastoma patients is higher in patients with NF1 than in those without said pathological entity. Conclusion: The early diagnosis of the lesions favors a timely management of NF1. These patients require a comprehensive and interdisciplinary management to achieve full rehabilitation.

RESUMEN Introducción. La neurofibromatosis tipo 1 (NF1) es una condición autosómica dominante que presenta una expresividad fenotípica variable, con manifestaciones que van desde lesiones cutáneas hasta compromiso funcional. Se manifiesta clínicamente durante la infancia y la adolescencia; su gen codifica una proteína, la neurofibromina, que actúa como un supresor tumoral en condiciones normales regulando, a su vez, otra proteína que estimula el crecimiento y proliferación celular. En caso de alteración se podrían presentar diferentes procesos tumorales como el que se evidencia en un reducido número de casos. Presentación de caso. Paciente masculino de 20 años con NF1, quien presentaba lesiones cutáneas como manchas color café con leche y desarrolló un glioblastoma, lo cual sucede de manera infrecuente. Discusión. Para obtener el diagnóstico confirmado se incluyen métodos de inmunohistoquímica que contribuyen en gran medida al pronóstico puesto que la mediana de supervivencia global de los pacientes de glioblastoma es mayor en pacientes con NF1 que aquellos sin dicha entidad patológica. Conclusión. El diagnóstico temprano de las lesiones favorece un manejo a tiempo de la NF1. Estos pacientes requieren un manejo integral e interdisciplinar para favorecer su rehabilitación total.

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Even with the advances of conventional treatment techniques, the nervous system cancer prognosis is still not favorable to the patient which makes alternative therapies needed to be studied. Photodynamic therapy (PDT) is presented as a promising therapy, which employs a photosensitive (PS) agent, light wavelength suitable for the PS agent, and molecular oxygen, producing reactive oxygen species in order to induce cell death. The aim of this study is to observe the PDT action in gliosarcoma cell using a chlorin (Photodithazine, PDZ). The experiments were done with 9L/lacZ lineage cells, grown in a DMEM medium supplemented with 10% fetal bovine serum and 1% penicillin/streptomycin solution and put in a culture chamber at 37 °C with an atmosphere of 5% CO2. The PS agent used was the PDZ to an LED light source device (Biopdi/IRRAD-LED 660) in the 660-nm region. The location of the PS agent was analyzed by fluorescence microscopy, and cell viability was analyzed by MTT assay (mitochondrial activity), exclusion by trypan blue (cell viability), and morphological examination through an optical microscope (Leica MD 2500). In the analysis of the experiments with PDZ, there was 100% cell death at different concentrations and clear morphological differences in groups with and without treatment. Furthermore, it was observed that the photodithazine has been focused on all nuclear and cytoplasmic extension; however, it cannot be said for sure whether the location is in the inside core region or on the plasma membrane. In general, the PDZ showed a promising photosensitive agent in PDT for the use of gliosarcoma.

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El Gliosarcoma es un raro Glioblastoma que contiene tantos elementos gliales comparable con un Glioblastoma como componentes mesenquimal. Aproximadamente entre 2-8% de todos los Glioblastomas están asociados con elementos sarcomatosos. Clínica y genéticamente muy parecido a los Glioblastomas, excepto por la ausencia de amplificación del EGFR. El gliosarcoma es un tumor de alto grado de malignidad y pobre pronóstico, con alta tasa de recurrencia. Presentamos el caso de un paciente masculino de 54 años de edad con diagnóstico de gliosarcoma cerebeloso, asociado a Neurofibromatosis tipo I. La NF I es el síndrome hereditario más común que predispone a la neoplasia, es una enfermedad polifacética asociado no sólo a tumores benignos.

Gliosarcoma are rare glioblastomas that contain an anaplastic glial component comparable to a glioblastoma, as well as,a mesenchymal component, that have a biphasic pattern. Approximately 2-8% of all glioblastomas are associated with a sarcomatous element. Clinically and genetically close to glioblastomas, except for the absence of EGFR amplification. The Gliosarcoma is a high-grade tumor of malignity and poor prognosis, with high rate of recurrence. We present the case of a masculine patient of 54 elderly years, with diagnosis of Gliosarcoma Cerebellar associate to Neurofibromatosis type I. The NF I is the hereditary syndrome more common that predisposes to the tumor, it is a versatile disease that not only becomes a partner of benign tumors.

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Gliosarcoma (GS) is a malignant neoplasm of the central nervous system that has coexisting glial and mesenchymal components. GSs are rarely related to osseous metaplasia. The authors report a case of GS in a male patient presenting apathy and catatonia. Computed tomography/magnetic resonance imaging showed an expansive process affecting the left frontal lobe. At microscopy, a malignant glioma constituted by highly atypical glial cells intermingled with spindle-shaped cells was identified. The lesion showed areas of necrosis with pseudopalisading formation, focus of osseous metaplasia, and positive immunoexpression of S100, CD99 and vimentin in both elements. Only the sarcomatous component exhibited negative immunoexpression of glial fibrillary acidic protein (GFAP). The diagnosis of GS was then established...

Gliossarcoma (GS) é uma neoplasia maligna do sistema nervoso central que apresenta coexistência de componentes glial e mesenquimal. Raramente, os GS estão associados à metaplasia óssea. Os autores descrevem um caso de GS em paciente masculino apresentando apatia e catatonia. A tomografia computadorizada e a ressonância magnética mostraram um processo expansivo comprometendo o lobo frontal esquerdo. À microscopia, foi identificado um glioma maligno constituído por células gliais extremamente atípicas entremeadas com células fusiformes. A lesão mostrava áreas de necrose com formação de pseudopaliçada, focos de metaplasia óssea e expressão imuno-histoquímica positiva para S100, CD99 e vimentina em ambos os componentes. Somente o componente sarcomatoso exibiu imunoexpressão negativa para proteína glial fibrilar ácida (GFAP). O diagnóstico de GS foi, então, estabelecido...

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El gliosarcoma es una neoplasia del sistema nervioso central de la cual se desconocen la mayoría de sus aspectos debido a su rara presentación. Presentamos el caso de un paciente de 19 años con diagnóstico de meduloblastoma que fue referido al INEN para recibir tratamiento de quimioterapia recurrente con radioterapia. La resonancia magnética realizada en dicha institución mostró una lesión sólida multilobulada heterogénea ubicada a nivel del cuarto ventrículo, con un di metro longitudinal de 4x 4,5 x 5cm, de aspecto maligno, neoformativo y con dos formaciones quísticas menores de 2 cm. A la espectroscopia por resonancia magnética (ERM), la relación de NAA/CR, fue 1,04. La revisión de l minas y análisis inmunohistoquímico dio como resultado GFAP (+), CD99 (+/-), S100 (+/-), CD56 (+/-), sinaptofisina(-), Bcl2 (-), NF(-), EMA(-), CD34(-), SMA(-), desmina(-) y Ki67: 20%. Además, se encontraron depósitos intercelulares de reticulina lo cual indicó la presencia de GSM. Recibió tratamiento con radioterapia seguido de temozolamida por 7 cursos, alcanzando una reducción del tratamiento tumoral en un 20%. A la fecha del reporte, se encuentra con enfermedad estable, en observación. AU)

The GSM is a malignancy of the CNS, most of its rare presentation. We present the case of a 19 year old women who had undergone cranial trepanation diagnosed as medulloblastoma. The patient was referred to INEN for receiving treatment with no results. The magnetic resonance images showed a solid heterogeneous multilobulated lesion localized in the 4th ventricle, multilobulated lesion localized in the 4th ventricle, with a longitudinal diameter of 4,5 x 4 x 5cm, with a malignant aspect, neoformative and with two cysts under 2 cm. To the spectroscopy (ERM), the relation NAA/CR was 1,04 revision of biopsy slides the inmunohistochemisty results were GFAP (+) , CD99 (+/-) , S100 (+ /-) , CD56 (+/-), sinaptopfisin (-), bcl2 (-), NF (-), EMA(-), CD34(-), EMA(-), CD34 (-), SMA(-), desmin(-) and Ki67: 20%. Besides, there were fou d intracellular reticulin deposits, this demonstrated the presence of GSM. The patient received treatment with radiotherapy followed by 7 courses of temozolomide, reaching a tumor size reduction of 20%. To the report’s date the patient has a stable disease condition continues with observation.

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O Gliossarcoma (GSa) é uma neoplasia primária rara do sistema nervoso central, caracterizada por padrão histológico bifásico que inclui os componentes glial e sarcomatoso. Os autores relatam o caso de um paciente masculino, de 49 anos de idade, que apresentou cefaleia como manifestação clínica predominante. O diagnostico foi suspeitado devido à arquitetura microscópica e confirmado pelo estudo imuno-histoquímico. Na terapêutica, foi submetido à craniotomia com microcirurgia para ressecção do tumor e tratamento radioterápico complementar. Dados epidemiológicos, histogênese e achados frequentes em exames de imagem são discutidos, assim como o tratamento e prognóstico.

The gliosarcoma (GSA) is a rare primary neoplasm of the central nervous system characterized by a biphasic histological pattern that includes the glial and sarcomatous components. Here the authors report the case of a 49-year-old male patient who presented headache as predominant clinical manifestation. The diagnosis was suspected on account of microscopic architecture and confirmed by immunohistochemical study. The patient underwent craniotomy with microsurgery for tumor resection and additional radiotherapy. Epidemiological data, histogenesis and common findings on imaging are discussed, as well as treatment and prognosis.

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Objetivo. Presentar un caso de esta infrecuente patología; realizar una revisión bibliográfica y analizar su etiología, características clínicas y tratamiento. Descripción. Paciente femenina de 60 años de edad, que consultó por presentar hemiparesia braquiocrural derecha y afasia de expresión de 30 días de evolución. La TAC y RMN evidenciaron lesiones localizadas a nivel parieto-occipital izquierda, parainsular y occipital derecha. El screening oncológico fue negativo. Intervención. Se realizó craniotomía y exéresis subtotal de la lesión parieto-occipital izquierda. La anatomía patológica informó gliosarcoma. Completó tratamiento con radioterapia holocraneana y quimioterapia con temozolamida. La paciente falleció a los diez meses del diagnóstico.(AU)

Objetive. We report a rare case of Multicentric Gliosarcoma, we review the literature and analyze its causes, clinical features and treatment.Description. Sixty-year-old female patient who has presented right hemiparesis and motor aphasia for a month. CT and MRI showed lesions at the left parieto-occipital lobes, right occipital and parainsular lobes. Oncologic screening was negative.Intervention. A craniotomy and subtotal excision of parietooccipital lesion was performed. Histological examination revealed gliosarcoma. She received radiotherapy and chemotherapy,however she died ten months after the diagnosis. Conclusion. Multicentric gliosarcoma is very unfrequent. Thereare only two cases reported in the literature. Even so, it must besuspected in multiple cerebral lesions.(AU)

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Objetivo. Presentar un caso de esta infrecuente patología; realizar una revisión bibliográfica y analizar su etiología, características clínicas y tratamiento. Descripción. Paciente femenina de 60 años de edad, que consultó por presentar hemiparesia braquiocrural derecha y afasia de expresión de 30 días de evolución. La TAC y RMN evidenciaron lesiones localizadas a nivel parieto-occipital izquierda, parainsular y occipital derecha. El screening oncológico fue negativo. Intervención. Se realizó craniotomía y exéresis subtotal de la lesión parieto-occipital izquierda. La anatomía patológica informó gliosarcoma. Completó tratamiento con radioterapia holocraneana y quimioterapia con temozolamida. La paciente falleció a los diez meses del diagnóstico.

Objetive. We report a rare case of Multicentric Gliosarcoma, we review the literature and analyze its causes, clinical features and treatment.Description. Sixty-year-old female patient who has presented right hemiparesis and motor aphasia for a month. CT and MRI showed lesions at the left parieto-occipital lobes, right occipital and parainsular lobes. Oncologic screening was negative.Intervention. A craniotomy and subtotal excision of parietooccipital lesion was performed. Histological examination revealed gliosarcoma. She received radiotherapy and chemotherapy,however she died ten months after the diagnosis. Conclusion. Multicentric gliosarcoma is very unfrequent. Thereare only two cases reported in the literature. Even so, it must besuspected in multiple cerebral lesions.

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