Glioma of the optic nerve and chiasm: a case report / Glioma óptico-quiasmático: um relato de caso

ABSTRACT This article reports the case of an 11-year-old male patient with a history of proptosis and low progressive visual acuity in the left eye. He presented with a best corrected visual acuity of 20/25 in the right eye and light perception in the left eye. Exotropia and limitation in adduction were observed in the left eye. On automated perimetry, inferiortemporal quadrantopsia was observed in the right eye, while total scotoma was observed in the left eye. On magnetic resonance imaging, there was an expansive lesion in the left optic nerve, extending to the brainstem with chiasmatic involvement. This article aims to report a case of optic pathway glioma, as well as to discuss its clinical findings and their interconnection with the current literature.

RESUMO Este artigo relata o caso de um paciente do sexo masculino, 11 anos de idade, com história de proptose e baixa de acuidade visual progressiva. Ao exame oftalmológico apresentava melhor acuidade visual de 20/25 em olho direito e percepção de luz em olho esquerdo. Existia exotropia e limitação à adução no olho esquerdo. À campimetria automatizada, observou-se quadrantopsia temporal inferior em olho direito e escotoma total em olho esquerdo. À ressonância magnética, evidenciou-se lesão expansiva em trajeto do nervo óptico esquerdo estendendo-se até região do tronco encefálico, com acometimento quiasmático. O objetivo deste artigo é relatar o glioma de vias ópticas, bem como discutir os achados e sua interligação com a literatura atual.

Long-term epilepsy associated-tumors (LEATs): what is new? / Tumores associados a epilepsia de longa duração: o que há de novo?

Abstract Long-term epilepsy-associated tumors (LEATs) include a series of neoplasms that commonly occur in children, adolescents, or young adults, have an astrocytic or glioneuronal lineage, are histologically benign (WHO grade1) with a neocortical localization predominantly situated in the temporal lobes. Clinically, chronic refractory epilepsy is usually the unique symptom. Gangliogliomas (GG) and dysembryoplastic neuroepithelial tumors (DNT) are the most common representative entities besides pilocytic astrocytomas (PA) and angiocentric gliomas (AG). Recent molecular studies have defined new clinicopathological entities, which are recognized by the WHO 2021 classification of brain tumors. Some of them such as diffuse astrocytoma MIB or MYBL1 altered, polymorphous low-grade neuroepithelial tumor of the young (PLNTY), and multilocular and vacuolating neuronal tumor (MVNT) are currently considered LEATs. The relationship between LEATs and epilepsy is still a matter of debate, and there is a general agreement about the beneficial effects of an early neurosurgical intervention on the clinical outcome.

Resumo Tumores associados a epilepsia de longa duração constituem uma série de neoplasias asatrocitárias ou glioneuronais que comumente incidem em crianças, adolescentes e jovens adultos e que são histologicamente benignos (OMS grau 1), de localização neocortical e predominantemente situados nos lobos temporais. Clinicamente, a epilepsia crônica refratária é, de modo geral, o único sintoma. Gangliogliomas (GG) e tumores neuroepiteliais disembrioplásticos (DNT) são as entidades mais representativas associadas a astrocitomas pilocíticos (AP) e gliomas angiocêntricos (GA). Estudos moleculares recentes permitiram a definição de novas entidades clínico-patológicas reconhecidas pela classificação de tumores cerebrais da OMS 2021. Algumas delas, como o astrocitoma difuso MIB ou MIBL1 alterados, o tumor neuroepitelial polimorfo do jovem (PLNTY) e o tumor neuronal multilocular e vacuolizado (MVNT) são atualmente considerados tumores associados a epilepsia de longa duração. A relação entre este grupo de tumores e epilepsia é ainda debatida e há um consenso geral sobre o benefício prognóstico de intervenção cirúrgica precoce.

Role of cyclin D1 in glial tumors—A retrospective and observational study

Aim: High-grade glial tumors remain as one of the most lethal malignancies. Cyclin D1 is expressed in some human malignancies and is the potential target of intervention. The present study aims to determine the relationship of cyclin D1 expression with other clinicopathological parameters. Materials and Methods: A cross-sectional study was carried out in a tertiary care center. Biopsy proven 66 cases of glial tumor patients were included in the study. The patients with incomplete clinical details were excluded from the study. Immunohistochemistry using antibodies for IDH 1 and cyclin d1 was done in all the cases. Glial tumors were reclassified according to WHO 2016 classification. Data analysis was performed using SPSS 26.0 for the windows. Result: Among 66 patients, 49 (74.3%) were males and 17 (25.7%) were females. The age of the patients ranged from 20 years to 70 years. Overall, 6.02% were of grade I Glial tumors, 22.7% were of grade II Glial tumors, 19.6% patients were of grade III Glial tumors, and 51.6% patients were of grade IV Glial tumors. Of 66 samples tested cyclin D1 was positive in 25 (37.87%) as high expressers and 7 (10.60%) were low expressers. Our study showed a significant correlation between the expression of cyclin D1 with grade and IDH mutation status, No significant correlation of cyclin D1 was noted with age or sex of the patient. Conclusion: Cyclin D1 was associated with a higher grade of the glial tumor. It can be a potential marker both for prognosis and treatment of glial tumors.

The 2021 World Health Organization classification of gliomas: an imaging approach / Nova classificação das neoplasias gliais segundo a Organização Mundial da Saúde 2021, com enfoque radiológico

Abstract The purpose of this pictorial essay is to describe the recommendations of the 2021 World Health Organization classification for adult-type and pediatric-type gliomas and to discuss the main modifications in relation to the previous (2016) classification, exemplified by imaging, histological, and molecular findings in nine patients followed at our institutions. In recent years, molecular biomarkers have gained importance in the diagnosis and classification of gliomas, mainly because they have been shown to correlate with the biological behavior and prognosis of such tumors. It is important for neuroradiologists to familiarize themselves with this new classification of central nervous system tumors, so that they can use this knowledge in evaluating and reporting the imaging examinations of patients with glioma.

Resumo O propósito deste ensaio iconográfico é descrever e discutir as novas recomendações da Organização Mundial da Saúde de 2021, referente aos gliomas dos tipos adulto e infantil, e suas principais diferenças com a classificação anterior (2016), exemplificadas com imagens de nove casos de pacientes atendidos nas nossas instituições. Recentemente, há uma crescente significância dos marcadores moleculares no diagnóstico e classificação dos gliomas e tumores do sistema nervoso central, principalmente pela correlação com o comportamento biológico e o prognóstico. É importante que os neurorradiologistas estejam familiarizados com a nova classificação dos tumores do sistema nervoso central para a prática clínica, na avaliação e emissão de laudos e opiniões nas imagens dos pacientes com gliomas.

Resección de astrocitoma fibrilar cerebeloso con apoyo endoscópico. Presentación de un caso

Se presentó paciente femenina de 7 años de edad, con antecedentes de salud aparente, atendida en el Hospital Pediátrico Docente "Pedro Agustín Pérez", de provincia Guantánamo. Al interrogatorio, la madre refirió semana de evolución con cefalea y vómitos. Cumplió tratamiento con analgésicos y antieméticos sin resolución de dicho cuadro. El estudio de resonancia magnética nuclear de cráneo informó en T1, corte axial, una lesión ocupativa de espacio, hipointensa, de aspecto quístico de fosa posterior, en hemisferio cerebeloso derecho, que comprimía el IV ventrículo, lo que causó una hidrocefalia obstructiva secundaria. Se realizó ventriculostomía con derivación ventriculoperitoneal y resección macroscópica de lesión con apoyo endoscópico. Se confirmó por estudio histopatológico el diagnóstico de astrocitoma fibrilar cerebeloso.

A seven years old female patient was evaluated at the Hospital Pediátrico Docente "Pedro Agustín Pérez", in Guantánamo, with a history of an apparent health situation. The patient´s mother referred a week with headache and vomiting. Patient underwent an analgesics and antiemetics treatment without resolution of symptoms. A magnetic resonance imaging study of the brain showed in T1 scan, in the axial section, a space-occupying, hypointense, and appearance of posterior fossa cystic lesion, in the right cerebellar hemisphere, which was compressing the IV ventricle, causing obstructive hydrocephalus secondary. Ventriculostomy routing ventriculoperitoneal shunt and macroscopic resection of lesion with endoscopic support included was performed. Cerebellar fibrillary astrocytoma was the diagnosis confirmed by histopathological study.

Paciente do sexo feminino, 7 anos, com histórico aparente de saúde, atendida no Hospital Pediátrico Docente "Pedro Agustín Pérez", na província de Guantánamo. Ao ser questionada, a mãe relatou uma semana de evolução com cefaléia e vômitos. Efetuou tratamento com analgésicos e antieméticos sem resolução dos referidos sintomas. O estudo de ressonância magnética nuclear do crânio relatou em T1, corte axial, lesão hipointensa, expansiva, de aspecto cístico em fossa posterior, no hemisfério cerebelar direito, que comprimia o quarto ventrículo, causando hidrocefalia obstrutiva secundária. Foi realizada ventriculostomia com derivação ventriculoperitoneal e ressecção macroscópica da lesão com suporte endoscópico. O diagnóstico de astrocitoma fibrilar cerebelar foi confirmado pelo estudo histopatológico.

Lesión difusa de médula espinal, ¿cirugía o tratamiento paliativo?: a propósito de un caso

Las lesiones difusas de médula son raras y un reto diagnóstico. Los gliomas de bajo grado son los de mayor prevalencia y los astrocitomas primarios, el subtipo más frecuente. Presentamos el caso de un varón de 36 años, con tiempo de enfermedad de 13 años de dolor cervical insidioso, progresa con hemiparesia derecha y, posteriormente, paraparesia severa con pérdida de control de esfínteres. Mediante una RMN total de columna se evidenciaron lesiones neoproliferativas difusas abarcando todos los segmentos medulares. Se realizó una biopsia a cielo abierto en segmento T1-T2, la patología diagnosticó glioma de bajo grado. El tratamiento es controversial y se descartó la cirugía por la alta morbilidad. Se optó por radioterapia y quimioterapia por su rol importante en el control de la enfermedad.

Diffuse spinal cord injuries are rare and pose a diagnostic challenge. Low-grade gliomas are the most prevalent type, with primary astrocytomas being the most frequent subtype. We present the case of a 36-year-old man with a 13-year history of squeezing neck pain, which progressed with right hemiparesis and later with severe paraparesis and loss of sphincter control. A whole spine MRI scan showed diffuse neoproliferative lesions that spread throughout all the spinal cord segments. An open biopsy of the lesion in the T1-T2 segment was performed. The pathology report stated low-grade glioma. Treatment is controversial, so surgery was ruled out due to high morbidity. Radiotherapy and chemotherapy were chosen because they play an important role in controlling the disease.

Factores pronósticos asociados a la supervivencia de pacientes con tumores astrocíticos / Prognostic factors associated with the survival of patients with astrocytic tumors / Fatores prognósticos associados à sobrevida de pacientes com tumores astrocíticos

RESUMEN Introducción: Los tumores cerebrales son un grupo heterogéneo dada las diferentes líneas celulares que los originan. Los tumores cerebrales más frecuentes son los que se derivan de la glía, siendo los astrocitomas los más comunes. Objetivo: Sistematizar los hallazgos de los estudios que examinaron múltiples factores pronósticos de supervivencia en pacientes con tumores cerebrales tipo astrocitoma. Método: Se realizó una revisión sistemática de estudios observacionales, analíticos, prospectivos. La búsqueda bibliográfica se efectuó en las bases de datos electrónicas Medline, SciELO, LILACS, PubMed y Google Académico, con los siguientes términos descriptores: edad, sexo, factores pronósticos, cáncer cerebral, astrocitoma. Resultados: En la búsqueda se hallaron 136 452 artículos que estaban distribuidos en diferentes bases de datos. Al aplicar los criterios de elegibilidad quedaron para el análisis 13 artículos. En el caso de los factores pronósticos dependientes de la lesión, tumor o enfermedad, en la mayoría de las investigaciones se mostró una tendencia a evaluar el grado histológico y la histología de la lesión. En el caso de los pronósticos dependientes del paciente existió una mayor inclinación hacia la edad, el sexo y la sintomatología presentada, mientras que en los dependientes del tratamiento se mostraron indistintamente las modalidades de tratamiento sugeridas a los pacientes: cirugía, quimioterapia y radioterapia. Conclusiones: En esta investigación se presentaron los principales factores pronósticos en pacientes con tumores astrocíticos contenidos en las literaturas referentes al tema, que se agrupan en factores pronósticos dependientes del tumor, el paciente y el tratamiento. Estos deben ser tenidos en cuenta para evaluar al paciente con estas lesiones tumorales cerebrales.

ABSTRACT Introduction: Brain tumors are a heterogeneous group given the different cells that originate them. The most frequent brain tumors are those derived from the glia, with astrocytomas being the most common. Objective: To systematize the findings of studies that examined multiple prognostic factors for survival in patients with astrocytoma-type brain tumors. Method: a systematic review of observational, analytical, prospective studies was carried out. The bibliographic search was carried out in the electronic databases Medline, SciELO, LILACS, PubMed and Google Scholar, with the following descriptive terms: age, sex, prognostic factors, brain cancer, astrocytoma. Results: The search found 136,452 articles that were distributed in different databases. When applying the eligibility criteria, 13 articles remained for analysis. In the case of prognostic factors dependent on the lesion, tumor or disease, most researches showed a tendency to evaluate the histologic grade and the histology of the lesion. In the case of the patient-dependent prognoses, there was a greater inclination towards age, sex and the symptoms presented, while in those dependent on the treatment, the treatment modalities suggested to the patients were shown indistinctly: surgery, chemotherapy and radiotherapy. Conclusions: In this research, the main prognostic factors contained in the literature about patients with astrocytic tumors were presented, which are grouped into prognostic factors depending on the tumor, the patient and the treatment. These must be taken into account to evaluate the patient with these brain tumor lesions.

RESUMO Introdução: Os tumores cerebrais são um grupo heterogêneo devido às diferentes linhagens celulares que os originam. Os tumores cerebrais mais frequentes são os derivados da glia, sendo os astrocitomas os mais comuns. Objetivo: Sistematizar os achados de estudos que examinaram múltiplos fatores prognósticos de sobrevida em pacientes com tumores cerebrais do tipo astrocitoma. Método: Foi realizada uma revisão sistemática de estudos observacionais, analíticos e prospectivos. A busca bibliográfica foi realizada nas bases de dados eletrônicas Medline, SciELO, LILACS, PubMed e Google Acadêmico, com os seguintes termos descritivos: idade, sexo, fatores prognósticos, câncer cerebral, astrocitoma. Resultados: A busca encontrou 136.452 artigos que foram distribuídos em diferentes bases de dados. Ao aplicar os critérios de elegibilidade, restaram 13 artigos para análise. No caso de fatores prognósticos dependentes da lesão, tumor ou doença, a maioria das investigações mostrou uma tendência a avaliar o grau histológico e a histologia da lesão. No caso dos prognósticos paciente-dependentes, houve maior inclinação para a idade, sexo e os sintomas apresentados, enquanto nos dependentes do tratamento, as modalidades de tratamento sugeridas aos pacientes foram mostradas indistintamente: cirurgia, quimioterapia e radioterapia. Conclusões: Nesta pesquisa foram apresentados os principais fatores prognósticos em pacientes com tumores astrocíticos contidos na literatura sobre o assunto, os quais são agrupados em fatores prognósticos dependendo do tumor, do paciente e do tratamento. Estes devem ser levados em consideração para avaliar o paciente com essas lesões tumorais cerebrais.

EPIDEMIOLOGY, IMAGING, DIAGNOSIS, CLINICAL PRESENTATIONS AND TREATMENT OF PRIMARY GLIOBLASTOMA IN RELATION TO PROGNOSIS: A CLINICAL CASE STUDY

GBM is the most common primary intracranial malignancy. Previous studies found its incidence varying substantially by age, sex, race and ethnicity and survival also varies by country, ethnicity and treatment. There is slight predominance in males, incidence increases with age. The standard approach of therapy is the newly diagnosed setting include surgery followed by concurrent radiotherapy with temozolomide. The recently revised classi?cation of GBM is based on molecular pro?ling notably isocitrate dehydrogenase mutation status. Our study included only patients who had undergone surgery in our institute in the past 1 year and diagnosed with grade IV astrocytoma as per biopsy report. We have excluded patients with other high grade tumors. We have used non-invasive brain imaging techniques such as CT scan and MRI for visualising tumors. We have included 32 patients, 22 men and 10 women, who were diagnosed with glioblastoma in our institute in the past 1 year . The median age of diagnosis among men is 50 years and that of women is 46 years. All of our patients were from Eastern India. Among these, 8 men and 2 women expired within 3 months of undergoing surgery before radiotherapy and chemotherapy. Thus, the mortality rate was nearly 31% during our study. We have found most of the patients presenting with headache, nausea, vomiting, seizure and hemiparesis. Extent of resection has varied from patient to patient thus leading to differences in outcome, morbidity and mortality. Outcome depends on performance status, advanced age, eloquent location, extent of resection and availability of chemo-radiotherapy.

Correspondencia entre los diagnósticos clínico, imagenológico e histopatológico en pacientes con tumores y seudotumores raquídeos intramedulares / Correspondence between the clinical, imaging and histopatologic diagnosis in patients with intramedullary spinal canal tumors and seudotumors

Introducción: Los tumores intramedulares son poco usuales y se generan dentro del tejido de la médula espinal, desplazando o invadiendo la materia blanca, los tractos y los cuerpos neuronales. Objetivo: Caracterizar a pacientes con tumores y seudotumores raquídeos intradurales intramedulares según variables clínicas, imagenológicas (resonancia magnética) e histopatológicas. Métodos: Se realizó un estudio observacional, descriptivo, longitudinal y prospectivo de 11 pacientes con diagnóstico clínico provisional de tumor o seudotumor raquídeo intramedular, confirmado por medio de la resonancia magnética, quienes fueron atendidos en el Departamento de Imagenología del Hospital General Docente Dr. Juan Bruno Zayas Alfonso de Santiago de Cuba de enero de 2014 a igual mes de 2017, procedentes de los hospitales generales de esta provincia y de Guantánamo. Resultados: En la investigación primaron las féminas (63,6 %), sobre todo en las edades de 40 a 59 años (45,4 %), así como las manifestaciones clínicas de debilidad muscular (100,0 %) y dolor en la columna vertebral (81,8 %). De acuerdo a la intensidad de las señales obtenidas en la resonancia magnética, resultaron más frecuentes las imágenes heterogéneas, predominantemente en la zona dorsal. Asimismo, sobresalió la mielopatía compresiva dorsal (27,3 %) como diagnóstico clínico de sospecha, mientras que 54,5 % de los diagnósticos imagenológicos fueron confirmados histopatológicamente, con un mayor porcentaje en el caso de los astrocitomas (36,4). Conclusiones: La resonancia magnética es el método imagenológico de elección para la identificación de estos tumores, dado que ofrece una aproximación al diagnóstico definitivo, el cual es corroborado mediante el estudio anatomopatológico.

Introduction: The intramedullary tumors are not very usual and they are generated inside the tissue of the spinal cord, displacing or invading the white matter, tracts and neuronal bodies. Objective: To characterize patients with intradural intramedullary spinal canal tumors and seudotumors according to clinical, imaging (magnetic resonance) and histopatologic variables. Methods: An observational, descriptive, longitudinal and prospective study of 11 patients with clinical provisional diagnosis of intramedullary spinal canal tumor or seudotumor was carried out, confirmed by means of magnetic resonance who were assisted in the Imaging Department of Dr. Juan Bruno Zayas Alfonso Teaching General Hospital in Santiago de Cuba from January, 2014 to the same month in 2017, coming from the general hospitals of this province and Guantánamo. Results: In the investigation there was a prevalence of females (63.6 %), mainly in the ages of 40 to 59 (45.4 %), as well as the clinical signs of muscular weakness (100.0 %) and pain in the spine (81.8 %). According to the intensity of signs obtained in the magnetic resonance, the heterogeneous images were more frequent, predominantly in the dorsal area. Also, dorsal compressive myelopathy was notable (27.3 %) as clinical diagnosis of suspicion, while 54.5 % of the imaging diagnosis was histopathologically confirmed, with a higher percentage in the case of astrocytomas (36.4). Conclusions: The magnetic resonance is the radiological method of election for the identification of these tumors, since it offers an approach to the definitive diagnosis, which is corroborated by means of the pathologic study.

Circumscribed astrocytic gliomas: Contribution of molecular analyses to histopathology diagnosis in the WHO CNS5 classification

The newest revision of the WHO classification of tumors of the central nervous system, also known as WHO 5th edition, introduces substantial changes, especially within the glial tumor category and separates adult-type and pediatric-type glial tumors into different categories for the first time. In addition, another category of glial tumors, “Circumscribed Astrocytic Gliomas” were also created. This group includes pilocytic astrocytoma, pleomorphic xanthoastrocytoma, subependymal giant cell astrocytoma, chordoid glioma, astroblastoma, and the highly nebulous novel entity high-grade astrocytoma with piloid features. We present a brief and critical review of the pathological and molecular characteristics of these often well-demarcated tumors that can occur in adults as well as in the pediatric population.

Lingual tonsil hypertrophy: about a case of unpredictable difficult airway / Hipertrofia de la amígdala lingual: a propósito de un caso de vía aérea difícil imprevisible

Abstract: Eleven years old children, proposed for resection of pylocitic astrocytoma of cerebellum, presented with lingual tonsil hypertrophy causing a unpredictable difficult airway approach. The presence of a lingual tonsil hypertrophied isn't diagnosed most of the times, with their occurrence being associated with previous tonsillectomy in more than half of the cases. Its occurrence, and non-identification, can originate scenarios of difficult airway approach, with a higher morbility association.

Resumen: Niño con 11 años, propuesto para exéresis de recidiva de astrocitoma pilocítico del cerebelo con hipertrofia de las amígdalas linguales a condicionar vía aérea difícil no previsible. La hipertrofia de las amígdalas linguales es subdiagnosticada y se suele asociar a amigdalectomía previa en más de la mitad de los casos. Su ocurrencia y no reconocimiento, puede originar situaciones de vía aérea difícil, con alta morbilidad asociada.

Xantoastrocitoma pleomórfico anaplásico y glioblastoma epitelioide: misma entidad o precursor de enfermedad / Anaplastic pleomorphic xanthoastrocytoma and epithelioid glioblastoma: same entity or precursor of disease / Xantoastrocitoma pleomórfico anaplásico e glioblastoma epitelioide: mesma entidade ou precursor de doença

Introducción. El xantoastrocitoma pleomórfico es una lesión glial de bajo grado de malignidad (grado II), puede presentar transformación maligna progresando a xantoastrocitoma pleomórfico anaplásico o glioblastoma multiforme, clasificados en grado III y IV, respectivamente, de acuerdo con la OMS. El glioblastoma epitelioide es un subtipo morfológico poco común del glioblastoma, de comportamiento agresivo, asociado a recurrencia temprana y compromiso leptomeníngeo. Presentación del caso. Se describe un reporte de caso de paciente femenina de 13 años con hallazgos de xantoastrocitoma pleomórfico anaplásico asociado a glioblastoma epitelioide, neoplasia poco frecuente que suele presentarse en la población pediátrica y en los adultos jóvenes. Discusión. El diagnóstico de glioblastoma epitelioide constituye un desafío, solo se han reportado unas pocas series pequeñas en la población adulta y pediátrica. Conclusión. Los hallazgos imagenológicos en las dos entidades son similares y comparten características histopatológicas e incluso algunos hallazgos moleculares superpuestos, lo cual dificulta su diferenciación, por lo que continúa siendo de gran controversia si se presentan conjuntamente o si el xantoastrocitoma pleomórfico anaplásico es un precursor del glioblastoma epitelioide.

Introduction. Pleomorphic xanthoastrocytoma is a glial lesion with low grade of malignancy (grade II), it can present malignant transformation progressing to anaplastic pleomorphic xanthoastrocytoma or glioblastoma multiforme, classified as grade III and IV, respectively, according to the WHO. Epithelioid glioblastoma is a rare morphological subtype of glioblastoma, with aggressive behavior, associated with early recurrence and leptomeningeal compromise. Case Presentation. Case report of a 13-year-old female patient with findings of anaplastic pleomorphic xanthoastrocytoma associated with epithelioid glioblastoma, a rare neoplasm that usually occurs in the pediatric population and in young adults. Discussion. The diagnosis of epithelioid glioblastoma is challenging, only a few small series have been reported in the adult and pediatric population. Conclusion. The imaging findings in the two entities are similar and share histopathological characteristics and even some overlapping molecular findings, which makes their differentiation difficult. For this reason, there is still a great controversy whether these entities are present continuously or whether the anaplastic pleomorphic xanthoastrocytoma is a precursor of epithelioid glioblastoma.

Introdução. O xantoastrocitoma pleomórfico é uma lesão glial de baixo grau de malignidade (grau II), pode apresentar transformação maligna progredindo para xantoastrocitoma pleomórfico anaplásico ou glioblastoma multiforme, classificados como grau III e IV, respectivamente, de acordo com a OMS. O glioblastoma epitelióide é um subtipo morfológico raro de glioblastoma, com comportamento agressivo, associado a recorrência precoce e envolvimento leptomeníngeo. Apresentação do caso. É descrito um relatório de caso de uma paciente feminina de 13 anos com achados de xantoastrocitoma pleomórfico anaplásico associado ao glioblastoma epitelióide, uma neoplasia rara que geralmente ocorre na população pediátrica e em adultos jovens. Discussão. O diagnóstico do glioblastoma epitélioide é desafiador, apenas algumas pequenas séries foram reportadas na população adulta e pediátrica. Conclusão. As descobertas imagiológicas nas duas entidades são semelhantes e compartilham características histopatológicas e, até mesmo, algumas descobertas moleculares sobrepostas, o que dificulta sua diferenciação, portanto permanece controverso se ocorrem juntas ou se o xantoastrocitoma pleomórfico anaplásico é um precursor do glioblastoma epitélioide.

Evaluation of progesterone receptor expression in low- and high-grade astrocytomas

SUMMARY OBJECTIVE: Gliomas are tumors originating from glial cells. Gliomas are the most common primary neoplasms of the central nervous system, with astrocytomas being the most prevalent glioma subtype. Progesterone regulates several reproductive processes, such as ovulation and sexual behavior, and influences neuronal excitability, learning, and the neoplastic proliferation of glial cells. Progesterone functions mainly by interacting with intracellular progesterone receptors to modify the expression of the genes involved in cell proliferation, angiogenesis, and epidermal growth factor production. As not many studies on the hormone receptors in glial tumors have been reported, the objective of this study was to evaluate the expression of these proteins in astrocytomas and to determine whether their expression levels vary according to the tumor grade. METHODS: This was a retrospective study using glial tumor paraffin blocks obtained from the São Marcos Hospital Pathology Department archives. Forty cases were divided equally into two groups, based on histological types and the World Health Organization criteria (low- and high-grade tumors). Progesterone receptor expression was analyzed by immunohistochemistry. The data were statistically analyzed using the Mann-Whitney U test and Spearman's correlation coefficient; results with p<0.05 were considered statistically significant. RESULTS: There were no statistically significant differences between the mean nuclear progesterone receptor expression of low-grade (0.1495) and high-grade (0.0937) astrocytomas (p=0.2). CONCLUSION: Progesterone receptors are present in both low- and high-grade gliomas; however, there is no significant difference in the levels of progesterone receptor expression between the tumor grades.

Biomarcadores radiológicos en RM para una aproximación al diagnóstico molecular en gliomas IDH-mutados (grado II y III) / MR Imaging Biomarkers for a Diagnostic Approach of IDH-mutated Gliomas (Grades II/III)

Resumen Objetivo: Analizar características por resonancia magnética (RM) de gliomas IDH-mutados (grado II y III) en base a parámetros cualitativos, a fin de valorar el rendimiento del signo del mismatch T2-FLAIR y otras características morfológicas de los tumores, en predecir el estado del 1p/19q y su reproducibilidad interobservador. Métodos Estudio retrospectivo, descriptivo y analítico sobre una cohorte de 53 gliomas IDH-mutados (grado II y III) y molecularmente definidos respecto al 1p/19q, seleccionados a partir de la base de datos de la institución, durante el periodo 2014- 2019. Dos neuroradiólogos evaluaron características imagenológicas de forma independiente y enmascarada al diagnóstico: mismatch T2-FLAIR, localización tumoral, bordes, señal, infiltración cortical e inhomogeneidad en T2. Los casos discordantes fueron evaluados por un tercer neuroradiólogo de mayor experiencia. Resultados: Treinta de 53 (56,6%) gliomas fueron no codelecionados, y 23/53 (43,4%) codelecionados. El signo del mismatch T2-FLAIR fue positivo en 16/53 (30,18%) pacientes, 15/16 (93,75%) no codelecionados y 1/16 (6,25%) codelecionado (Exacto de Fisher p = <,0001). Los dos evaluadores demostraron una concordancia interobservador casi perfecta para ese signo, κ =,907 (95% CI, 0,781 a 1,0). La especificidad y el valor predictivo positivo del signo para predecir la ausencia de la codeleción fue de un 95,7% y un 93,8% respectivamente. Discusión: La reciente actualización en la clasificación de los gliomas los clasifica acorde a su perfil molecular. En los últimos años, varios investigadores han estudiado características morfológicas por RM de los tumores con la intención de predecir las características moleculares de los mismos. Conclusión: En nuestra población, el signo del mismatch T2-FLAIR es el único biomarcador radiológico que muestra asociación estadísticamente significativa en predecir la ausencia de codeleción en los gliomas IDH-mutados (grado II y III), con una alta especificidad y un alto valor predictivo positivo.

Abstract Objective: To analyze magnetic resonance (MR) characteristics of IDH-mutated gliomas (grades II/III) utilizing qualitative parameters with the goal of assessing the performance of the T2-FLAIR mismatch sign and other morphological characteristics of tumors in predicting the 1p/19q co-deletion status as well as inter-observer reproducibility. Methods: Retrospective and descriptive study analyzing a cohort of 53 IDH-mutated lower-grade (grades II/III) gliomas with known 1p/19q co-deletion status. Patients meeting selection criteria for this study were taken from our institutional data from 2014-2019. Two neuroradiologists assessed the following imaging characteristics independently, and blinded from the diagnosis: T2-FLAIR mismatch, tumor location, borders, signal characteristics, cortical infiltration and T2* inhomogeneity. In the event of discordant interpretations, a third senior neuroradiologist also evaluated the case. Results: 23 of the 53 (43.4%) gliomas demonstrated 1p/19q co-deletion and 30 of 53 (56.6%) did not. T2-FLAIR mismatch was positive in 16 of 53 cases (30.2%) with 15 of 16 (93.8%) demonstrating no co-deletion and 1/16 (6.25%) with co-deletion (Fisher's exact p = < .0001). The two readers showed an almost perfect interreader agreement for this sign κ = 0.907 (95% CI, 0.781 to 1.0). Specificity and positive predictive value of the sign to predict the absence of co-deletion was 95.7% and 93.8% respectively. Discussion: The recent update in classification of lower-grade gliomas segregates gliomas according to molecular profile. In the recent past, many researchers have studied MR morphologic characteristics of these tumors with the intention of predicting molecular features of said tumors Conclusion: In our patient population, T2-FLAIR mismatch sign is the only radiologic biomarker that shows statistically significant association with the absence of 1p/19q co-deletion in lower-grade gliomas, with high specificity and positive predictive value.

Expressions of TP53, PDGF and EGFR in Primary Astrocytomas and Their Correlation with Clinicopathological Features and Prognosis / 肿瘤防治研究

Objective To investigate the expression of TP53, PDGF and EGFR in primary astrocytomas, and analyze their correlation with clinicopathological features and prognosis. Methods We analyzed retrospectively the clinicopathological data of 90 patients with primary astrocytoma. The expressions of TP53, PDGF and EGFR in primary astrocytoma tissue samples were detected by immunohistochemistry. The survival of patients was followed up and Cox regression analysis was used to determine the prognostic factors. Results TP53 was expressed in the nucleus, PDGF and EGFR were expressed in the cytoplasm and cell membrane. The positive expression rates of TP53, PDGF and EGFR were 58.89%, 51.11% and 48.89%, significantly higher than those in normal brain tissues (all P < 0.05); the positive expression rate of TP53 in patients with tumor size ≥3 cm was higher than that in patients with tumor size < 3 cm. The positive expression rates of TP53, PDGF and EGFR in patients with WHO stages Ⅲ-Ⅳ were higher than those in patients with WHO stageⅠ-Ⅱ(all P < 0.05); the survival time of patients with positive expression of TP53, PDGF and EGFR were shorter than those of negative expression (all P < 0.05). Cox regression analysis found that WHO staging, TP53, PDGF and EGFR were all factors influencing the prognosis of primary astrocytomas patients. Conclusion TP53, PDGF and EGFR are highly expressed in primary astrocytomas and closely related to tumor progression. They are factors that affect the prognosis of patients.

Detección de la mutación de la enzima isocitrato deshidrogenasa en gliomas difusos grados II, III y IV / Detection of isocitrate dehydrogenase enzyme mutation in grades II, III and IV diffuse gliomas

Introducción. Los gliomas son las neoplasias malignas primarias más frecuentes del sistema nervioso central, asociadas con una mortalidad y morbilidad elevadas. Las mutaciones en los genes IDH1 e IDH2 de la enzima isocitrato deshidrogenasa (IDH) son clave en la tumorogénesis, y son consideradas un factor pronóstico importante en estas neoplasias. En este estudio se buscó determinar la presencia de mutaciones de los genes IDH1 e IDH2 en pacientes con diagnóstico de glioma difuso en diferentes grados, y su correlación con la sobrevida. Metodología. Se realizó un estudio descriptivo, prospectivo y retrospectivo. La población de estudio fueron pacientes entre los 18 y 45 años con diagnóstico de glioma difuso grado II, III y IV, atendidos en el Hospital San Vicente Fundación de Medellín, entre 2012 y 2017, en quienes se realizó un análisis de mutaciones en los genes IDH1 e IDH2 por secuenciación Sanger y tinción de inmunohistoquímica. Resultados. Se incluyeron 14 pacientes con edad promedio de 37 años, 57% de sexo masculino. Glioblastoma fue la neoplasia más frecuente, diagnosticada en el 42,9% de casos. Por inmunohistoquímica, 10 de los 14 (71,4%) pacientes presentaron mutación de la enzima IDH1, en tanto que 1 de los 11 (9%) pacientes en quienes se logró la secuenciación del gen IDH2, mostró mutación. En general, el 78,6% presentó mutaciones de la enzima IDH, con promedio de sobrevida de 48 meses. Conclusión. Estos hallazgos sugieren que los gliomas son un grupo heterogéneo de tumores, con gran variabilidad genética que impacta en su pronóstico y comportamiento

Introduction. Gliomas are the most common primary malignancies of the central nervous system, associated with high mortality and morbidity. Mutations in the isocitrate dehydrogenase (IDH) enzyme IDH1 and IDH2 genes, are key in tumorigenesis, and are considered an important prognostic factor in these neoplasms. This study aimed to determine the presence of IDH1 and IDH2 gene mutations in patients diagnosed with diffuse glioma in different degrees, and their correlation with survival. Methodology. A descriptive, prospective and retrospective study was conducted. The study population consisted of patients between the ages of 18 and 45 with a diagnosis of grade II, III and IV diffuse glioma, treated at the Hospital San Vicente Fundación in Medellín, between 2012 and 2017, in whom an analysis of IDH1 and IDH2 gene mutations was performed by Sanger sequencing and immunohistochemical staining. Results. Fourteen patients with a mean age of 37 years were included, 57% were male. Glioblastoma was the most frequent neoplasm, diagnosed in 42.9% of the cases. By immunohistochemistry, 10 of the 14 (71.4%) patients had a mutation of the IDH1 enzyme, while 1 of the 11 (9%) patients in whom IDH2 gene sequencing was achieved showed a mutation. In general, 78.6% had IDH enzyme mutations, with an average survival of 48 months. Conclusion. These findings suggest that gliomas are a heterogeneous group of tumors, withgreat genetic variability that impacts their prognosis and behavior

Evaluation of the melting temperature of TaqMan probes as a genotyping method for IDH1, IDH2, and H3F3A in pediatric astrocytomas / Evaluación del método de temperatura de disociación de sondas TaqMan para la genotipificación de IDH1, IDH2 y H3F3A en astrocitomas pediátricos

Abstract Background: Astrocytomas are cancer tumors of the central nervous system and represent the most common type of solid tumors during human childhood. In 2016, the World Health Organization established a molecular classification system to regroup tumor entities to achieve a more accurate diagnosis and a better clinical decision-making and selection of treatment in patients with these types of tumors. Methods: We evaluated a genotyping assay for rapid and cost-effective mutation detection in astrocytomas using TaqMan probes in an asymmetric polymerase chain reaction (PCR) assay. Results: Four diffuse astrocytomas (Grade II), three anaplastic astrocytomas (Grade III), and four glioblastomas (Grade IV) were sequenced, and all of them displayed the wild-type (WT) sequence. We tried to set up this melting analysis for the genotyping of pediatric astrocytomas by identifying the specific melting temperatures of the TaqMan probes due to the presence of the WT sequences in the isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) and H3.3 histone A genes (H3F3A). We used an IDH1-TaqMan probe to identify the WT status of IDH1 in two different WT deoxyribonucleic acid (DNA) templates (pilocytic and diffuse astrocytoma) and obtained four melting temperature values ranged from 65.6 to 92.2°C. Furthermore, only four out of 29 reactions displayed amplification of the DNA template. Sanger sequencing was faster and more reliable to detect the gene status in all the sequenced samples. Conclusions: We conclude that conventional Sanger sequencing remains the gold standard for the genotyping of pediatric astrocytomas.

Resumen Introducción: Los astrocitomas son un tipo de cáncer que afecta al sistema nervioso central y representan el tumor sólido más común durante la infancia. En el año 2016, la Organización Mundial de la Salud estableció un sistema de clasificación molecular para reagrupar tumores con identidades genéticas similares y lograr un diagnóstico más preciso, lo que lleva a tomar las decisiones clínicas idóneas al elegir el tratamiento de pacientes con este tipo de tumores. Métodos: Se evaluó un protocolo que involucra el uso de sondas TaqMan en un ensayo de reacción en cadena de la polimerasa asimétrica para la detección de mutaciones en astrocitomas. Se secuenciaron cuatro astrocitomas difusos (Grado II), tres astrocitomas anaplásicos (Grado III) y cuatro glioblastomas (Grado IV). Se intentó establecer las condiciones del análisis para la genotipificación de los astrocitomas pediátricos mediante la identificación de las temperaturas de disociación específicas de las sondas TaqMan producidas por la prescencia de las secuancias WT en los genes isocitrato deshidrogenasa 1 y 2 (IDH1, IDH2) y H3.3 histona A (H3F3A). Resultados: Los astrocitomas mostraron la secuencia wild type (WT) (silvestre) de los genes. Se utilizó una sonda TaqMan IDH1 para identificar el estado de este gen en dos templados WT de DNA (astrocitoma pilocítico y difuso) y se obtuvieron cuatro valores de temperatura de disociación (65.6-92.2 °C). Solo cuatro de las 29 reacciones mostraron amplificación de DNA. La secuenciación de Sanger fue más rápida y confiable para detectar el estado de los genes en todas las muestras. Conclusiones: La secuenciación de Sanger sigue siendo la técnica más práctica para la genotipificación de astrocitomas pediátricos.

Pilocytic astrocytoma, another way to reach your diagnosis / Astrocitoma pilocítico, outra forma de chegar ao seu diagnóstico

Abstract Cerebellar astrocytoma (low-grade glioma) is the most frequent tumor of the Central Nervous System in pediatric age, corresponding to 10-20% of brain tumors, having its maximum incidence at 5 years. Brain tumors are the second cause of death at this age, behind leukemias. Its most frequent clinic is headache with vomiting which can worsen in the morning and awaken the patient at night. The most frequent ophthalmological clinic is papilledema and involvement of the cranial nerve VI. In our case we present an atypical presentation (cranial IV), in which a quick derivation favored a better prognosis.

Resumo O astrocitoma cerebelar (glioma de baixo grau) é o tumor mais frequente do Sistema Nervoso Central em idade pediátrica, correspondendo a 10-20% dos tumores cerebrais, tendo sua incidência máxima em 5 anos. Os tumores cerebrais são a segunda causa de morte nesta idade, atrás das leucemias. Sua clínica mais frequente é a cefaleia com vômitos que podem piorar pela manhã e despertar o paciente à noite. A clínica oftalmológica mais frequente é o papiledema e o envolvimento do nervo craniano VI. Em nosso caso apresentamos uma apresentação atípica (IV craniana), em que uma derivação rápida favoreceu um melhor prognóstico.

Diagnóstico diferencial de las lesiones del IV ventrículo / Differential Diagnosis of Fourth Ventricular Lesions

La población pediátrica es, de lejos, la más afectada por las lesiones del cuarto (IV) ventrículo. La gran mayoría presentan un patrón radiológico similar; actualmente, con las secuencias de difusión, espectroscopia y mapas de ADC, se puede inferir la compatibilidad de los hallazgos visualizados con alguna de las patologías que se revisarán en el presente trabajo

The pediatric population is by far the most affected by lesions of the fourth (IV) ventricle. The vast majority present a similar radiological pattern, for which today, with the diffusion sequences, spectroscopy and ADC maps, it can be inferred that the visualized findings are more likely compatible with some of the pathologies that we will review later

Differential diagnosis of cerebellum cystic-solid hemangioblastoma and pilocytic astrocytoma according to MRI enhancement degree / 中国介入影像与治疗学

Objective: To investigate the value of MRI enhancement degree in differential diagnosis of cerebellum cystic-solid hemangioblastoma and pilocytic astrocytoma. Methods: MRI data of 30 patients with cerebellum cystic-solid hemangioblastoma and 30 patients with cerebellum cystic-solid pilocytic astrocytoma confirmed by operation and pathology were retrospectively analyzed. The enhancement value of the solid component of the lesion was calculated, then ROC curve was drawn, and the diagnostic effect of the solid component enhancement level was evaluated. Results: Among 30 cases of cerebellum cystic-solid hemangioblastoma, cystic nodules were in 15 cases, while solid masses with cystic changes were observed in other 15 cases, and the parenchyma part was uniformly strengthened. Among 30 cases of cerebellum cystic-solid pilocytic astrocytoma, cystic nodules were detected in 11 cases, where as solid masses with cystic changes were noticed in 19 cases, 21 cases had uniform enhancement of parenchyma and 9 cases showeduneven enhancement. The parenchyma enhancement degree of cerebellum cystic-solid hemangioblastoma was 4.20 (3.28,4.84), of cerebellum cystic-solid pilocytic astrocytoma was 1.95 (1.49,2.43) (F=72.69,P<0.01). The specificity and sensitivity of diagnosis of cerebellum cystic-solid hemangioblastoma was 88.9% and 92.9%, respectively. Taken the enhancement amplitude 2.58 as the threshold, the AUC was 0.95. Conclusion: The degree of MRI enhancement of solid tumor components is helpful to distinguishing cerebellum cystic-solid hemangioblastoma and pilocytic astrocytoma.