Ventajas de la secuenciación de próxima generación sobre la hibridación fluorescente in situ para detectar la codeleción 1p/19q en oligodendrogliomas / Advantages of next generation sequencing over fluorescent in situ hybridization to detect 1p/19q codeletion in oligodendroglioma / Vantagens do sequenciamento de próxima geração sobre a hibridização fluorescente in situ para detectar codeleção 1p/19q em oligodendrogliomas

El perfil molecular de los gliomas permite garantizar la precisión del diagnóstico, informar el pronóstico e identificar opciones de tratamiento. Esta revisión tiene como objetivo exponer que con la secuenciación de próxima generación (NSG) el diagnóstico de los pacientes con oligodendrogliomas puede ser más exacto. Además, con un dispositivo de diagnóstico in vitro, basado en la NSG (F1CDx), en el que se utilizan los bloques de parafina de gliomas para analizar hasta 395 genes relacionados con cáncer (incluido IDH 1 y 2), se puede también informar la pérdida de la totalidad del brazo corto del cromosoma 1 y del brazo largo del cromosoma 19 (codeleción 1p/19q), a diferencia de la hibridación fluorescente in situ (FISH) que detecta desde la más mínima deleción, lo cual los hace sensibles pero no específicos ya que el FISH es incapaz de distinguir entre la pérdida de la totalidad del brazo del cromosoma y una deleción focal. Esta distinción es importante ya que la sobrevida es inferior en tumores con deleción parcial en rela­ción con los oligodendrogliomas, que tienen por definición la pérdida total de ambos cromosomas. Se hace también alusión a otras plataformas genómicas como GlioSeq y GLIO-DNA panel, que pueden cumplir la misma función. En conclusión, la F1CDx puede determinar con precisión 1p/19q con una concordancia del 96.7% frente a FISH. Los casos en que el FISH dio positivo y no concordaban con F1CDx, era porque no se trataba de oligodendrogliomas. F1CDx también analiza todos los genes que permiten la aproximación más exacta al diagnóstico de oligodendroglioma.

Molecular profiling of gliomas helps ensure diagnostic accuracy, inform prognosis, and identify treatment options. This review aims to show that with next generation sequencing (NGS) the diagnosis of patients with oligodendrogliomas can be more accurate. In addition, with an in vitro diagnostic device, based on NSG (F1CDx), in which glioma paraffin blocks are used to analyze up to 395 cancer-related genes (including IDH 1 and 2), it is also possible to report the loss of the entire short arm of chromosome 1 and the long arm of chromosome 19 (1p/19q codeletion), unlike fluorescence in situ hybridization (FISH) that detects even the slightest deletion, making them sensitive but not specific, as FISH is unable to distinguish between the loss of the entire arm of the chromosome and a focal deletion. This distinction is important since survival is lower in tumors with partial deletion compared to oligodendrogliomas, which by definition have the total loss of both chromosomes. Reference is also made to other genomic platforms such as GlioSeq and GLIO-DNA panel, which can fulfill the same function. In conclusion, the F1CDx can accurately determine 1p/19q with a concordance of 96.7% against FISH. The cases in which the FISH was positive and did not agree with F1CDx, it was because they were not oligodendrogliomas. F1CDx also analyzes all the genes that allow the most accurate approach to the diagnosis of oligodendroglioma.

O perfil molecular de gliomas ajuda a garantir a precisão do diagnóstico, informar o prognóstico e identificar as opções de tratamento. Esta revisão tem como objetivo mostrar que com o sequenciamento de próxima geração (NSG) o diagnóstico de pacientes com oligodendrogliomas pode ser mais preciso. Além disso, com um dispositivo de diagnóstico in vitro baseado em NSG (F1CDx), no qual blocos de parafina de glioma são usados para analisar até 395 genes relacionados ao câncer (incluindo IDH 1 e 2), também é possível relatar a perda do todo o braço curto do cromossomo 1 e o braço longo do cromossomo 19 (codeleção 1p/19q), ao contrário da hibridização fluorescente in situ(FISH) que detecta desde a menor deleção, o que os torna sensíveis, mas não específicos, pois o FISH é incapaz de distinguir entre a perda de todo o braço do cromossomo e uma deleção focal. Essa distinção é importante, pois a sobrevida é menor nos tumores com deleção parcial em relação aos oligodendrogliomas, que por definição apresentam a perda total de ambos os cromossomos. Também é feita referência a outras plataformas genômicas, como GlioSeq e painel GLIO-DNA, que podem cumprir a mesma função. Em conclusão, o F1CDx pode determinar com precisão 1p/19q com uma concordância de 96,7% versus FISH. Os casos em que FISH foi positivo e não concordaram com F1CDx, foi porque não eram oligodendrogliomas. O F1CDx também analisa todos os genes que permitem a abordagem mais precisa para o diagnóstico de oligodendroglioma.

Pleomorphic Xanthoastrocytoma with Oligodendroglioma-Like Areas with Negative 1p19q Co-Deletion

The most common mixed glioma encountered in routine surgical practice is oligoastrocytoma (OA); however, its is currently considered a vanishing entity. The 2016 classification of the World Health Organization (WHO) discourages the diagnosis of tumors as mixed glioma. The recommendations are that diffuse gliomas, including those withmixed or ambiguous histological features, should be subjected tomolecular testing. Dual-genotype OAs are not yet a distinct entity or variant in the classification. We report a case ofmixed glioma: a pleomorphic xanthoastrocytoma (PXA)mixed with an oligodendroglioma. The immunohistochemistry (IHC) pattern of isocitrate dehydrogenase 1 (IDH1) negativity with retained nuclear expression of the alpha-thalassemia x-linked intellectual disability syndrome (ATRX) protein, and 1p19q co-deletion negativity in both the components enabled its identification as a mixed glioma rather than a collision tumor. To the best of our knowledge, the case herein presented is the fourth case of PXA with oligodendroglioma. Out of the other three reported cases, only one was of a collision tumor with a dual genotype, and the other two showed similar molecular signatures in both components. The present article discusses the histological, immunohistochemical and molecular features of the aforementioned case.

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.

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

A Diffuse Leptomeningeal Glioneural Tumor Case Producing Hydrocephalus and Polyradiculopathy

The present report describes the case of a male 17-year-old patient who progressively developed a hydrocephalus and polyradiculopathy due to involvement of central nervous system (CNS) by a diffuse leptomeningeal glioneuronal tumor (DLGNT). The tumor had partial remission in response to the treatment with radiotherapy plus procarbazine, lomustine, and vincristine (PCV) chemotherapy, and the patient had improvement in function and pain levels. The current knowledge about DLGNT, including its clinical manifestations, imaging findings, histological characteristics, and treatment are revised and discussed in the present paper.

Oligodendroglioma anaplásico quístico: reporte de caso / Anaplastic cystic oligodendroglioma: case report

Resumen: Los oligodendrogliomas anaplásicos son gliomas infiltrantes grado III de la organización mundial de la salud (OMS). Son tumores poco frecuentes y representan el 5-10% de todas las neoplasias intracraneales primarias. Su incidencia es de 0.3 por 100.000 habitantes por año en Estados Unidos. Con frecuencia se presentan en adultos entre los 40-60 años de edad. Los síntomas principales pueden ser déficit motor, déficit cognitivos y síntomas de aumento de la presión intracraneal. Su comportamiento en resonancia magnética muestra un aspecto heterogéneo con necrosis, degeneración quística y hemorragia intratumoral. Las presentaciones quísticas extensas son poco frecuentes. Reportamos el caso de un oligodendroglioma anaplásico de aspecto predominantemente quístico en una mujer joven.

Abstract: Anaplastic oligodendrogliomas are grade III infiltrating gliomas of the World Health Organization (WHO). They are rare tumors and represent 5-10% of all primary intracranial neoplasms. Its incidence is 0.3 per 100.000 inhabitants per year in the United States. They often occur in adults between 40-60 years of age. The main symptoms may be motor deficit, cognitive deficits and symptoms of increased intracranial pressure. Its behavior in MRI shows a heterogeneous appearance with necrosis, cystic degeneration and intratumoral hemorrhagic. Extensive cystic presentations are rare. We report the case of an anaplastic oligodendroglioma of predominantly cystic appearance in a young woman.

Relación entre el coeficiente de difusión aparente y la celularidad de gliomas en centro de tercer nivel de Panamá / Relationship between the apparent diffusion coefficient and cellularity of gliomas in tertiary care center of Panamá

Introducción: Los gliomas son tumores malignos altamente celulares del sistema ner­ vioso central. Su grado histológico preoperatorio es de utilidad en el manejo quirúrgico, por lo que la resonancia magnética con secuencias avanzadas intenta brindar mayor información tumoral. Objetivo: Relacionar el coeficiente aparente de difusión (CAD) y celularidad de los gliomas de pacientes entre enero 2015 a diciembre 2017. Metodo­ logía: Retrospectivamente se obtuvieron de archivos clínicos la edad, sexo, tipo, grado histológico y sitio anatómico. Se calculó el CAD en 5mm 2 en los estudios de resonancia magnética preoperatorias y se utilizó las laminillas para conteo de celularidad en 5mm 2 digitalmente. Se utilizó análisis estadísticos descriptivos y coeficiente de correlación entre CDA con celularidad. Se utilizaron valores de p < 0.05 para significancia estadís­ tica. Resultados: 46 casos fueron incluidos, 56.5% fueron hombres. El rango de 41­64 años fueron los más afectados. El glioblastoma fue el tipo histológico más frecuente (47.8%), así como los gliomas de alto grado (73.9%). El 95.7% fueron supratentoriales. La celularidad promedio fue de 3970 ± 2900 vs 2436 ± 948 núcleos/5mm 2 (p = 0.13), con valores promedio de CDA mínimo de 0.813 x 10­3 ± 0.229 mm 2 /s vs 1.052 x 10­3 ± 0.196 mm 2 /s (p = 0.002), para los gliomas de alto y bajo grado respectivamente. La co­ rrelación entre CDA y celularidad fue débil (R = ­ 0.13, p = 0.37). Conclusión: Existe co­ rrelación débil inversamente proporcional entre el CDA y la celularidad con distinción de gliomas de bajo y alto grado con valores de CDA mínimos

Introduction: Gliomas are highly cellular malignant tumors of the central nervous sys­ tem. Its preoperative histological grade is useful in surgical management, so magnetic resonance imaging with advanced sequences tries to provide more tumor information. Objective: Correlate apparent diffusion coefficient (ADC) and cellularity of gliomas of patients between January 2015 to December 2017. Methodology: Data of age, sex, ty­ pe, histologic grade and anatomic site were retrospectively obtained from clinical archi­ ves. The preoperative magnetic resonance ADC was calculated in a 5 mm 2 region of interest and the microscope slides were used for the cellularity digitally count in 5 mm 2 . Descriptive statistical analysis and correlation coefficient between ADC and cellularity were used. Values of p <0.05 were used for statistical significance. Results: 46 cases were included, 56.5% were men. The 41­64 years ranges were the most affected. Glio­ blastoma was the most frequent histological type (47.8%), as well as high grade glio­ mas (73.9%). 95.7% were supratentorial. The average cellularity was 3970 ± 2900 vs 2436 ± 948 nuclei/ 5mm 2 (p = 0.13), with average minimum ADC values of 0.813 x 10­3 ± 0.229 mm 2 /s vs 1052 x 10­3 ± 0.196 mm 2 /s (p = 0.002), for high­ and low­grade glio­ mas, respectively. The correlation between ADC and cellularity was weak (R = ­ 0.13, p = 0.37). Conclusions: There is a weak inversely proportional correlation between ADC and cellularity. With distinction of low­ and high­grade gliomas with minimum ADC values

Rehabilitación de las funciones ejecutivas en un caso de oligoastrocitoma frontal derecho / Rehabilitation of executive functions in a case of right frontal oligoastrocytoma

El desarrollo tecnológico y científico en salud de los últimos años ha permitido mejoras en el diagnóstico y mayor eficacia en el tratamiento de pacientes con tumores cerebrales, generado un aumento no solo en la supervivencia, sino también una mayor demanda de los servicios de neuropsicología y rehabilitación, debido a las alteraciones cognitivas asociadas y dificultades en cuanto a la funcionalidad e independencia, disminuyendo significativamente la calidad de vida de estos pacientes. La presente investigación documenta el caso de un paciente masculino de 43 años, remitido al servicio de neuropsicología tras la resección de oligoastrocitoma frontal derecho, en la evaluación neuropsicológica se evidenció alteraciones en funciones ejecutivas, fluidez de lenguaje discursivo y dificultad en habilidades instrumentales. La investigación se realizó bajo el diseño cuasi experimental de caso único, donde se aplicó en repetidas ocasiones a lo largo del tratamiento el Inventario de Adaptabilidad Mayo-Portland (MPAI-4) para determinar las dificultades funcionales del paciente. El objetivo de la rehabilitación neuropsicológica se centró en implementar estrategias de autoinstrucciones y automonitoreo, que pudieran ser aplicadas en contextos cotidianos y en intereses específicos del paciente. Los resultados indican que el proceso de rehabilitación neuropsicológica demostró tener un efecto positivo en la funcionalidad del paciente y las estrategias aprendidas pueden ser trasladadas a su vida cotidiana

The technological and scientific development on health in recent years has allowed improvements in diagnosis and treatment on brain tumor patients, have increase not only their survivor rate but also their need of neuropsychology and rehabilitation services due to cognitive alterations associated and the subsequent struggling with independence and functionality that reduces significantly their life quality. The present research documents the case of a male patient, 43 years old, referred to the service after resection of right frontal oligoastrocytoma, in the neuropsychologic evaluation evidenced executive functions, discursive language fluency alterations and difficulties in instrumental skills. The research was carried out under the quasi experimental design of a single case where there will be applied repeatedly during the course of treatment the Mayo-Portland Adaptability Inventory (MPAI-4) to identify functional difficulties on the patient. The objective of the neuropsychological rehabilitation focuses on implementing self-instruction and self-observance strategies in order to apply them on an ordinary context and the patient's specific areas of interest. The results indicate that the neuropsychological rehabilitation treatment has shown a positive effect on the patient's functionality and an improvement on his ability to apply the learned strategies to his day to day life.

Semi-quantitative evaluation of brain gliomas in adults: A focus on neuropathological characteristics

Introduction: Gliomas are neoplasms with high recurrence and mortality. Due to the difficulty to apply the World Health Organization (2016) classification, developing countries continue to use histological evaluation to diagnose and classify these neoplasms. Objective: To develop a semi-quantitative scale to numerically grade gliomas by its morphological characteristics. Method: A cohort of patients with gliomas was assessed and followed for 36 months. Tumor tissue sections were analyzed and graded, including aspects such as cell line, cellularity, nuclear pleomorphism, mitosis, endothelial hyperplasia, hypoxic changes, apoptotic bodies, necrosis, hemorrhage and proliferation index. Results: 58 cases were analyzed. Low-grade gliomas median score was 12 points (9 and 13.5 for percentiles 25 and 75, respectively), whereas for high-grade gliomas it was 17 points (16 and 20.5 for percentiles 25 and 75, respectively) (p < 0.0001). Thirty-six-month survival of patients with low (13/17) and high grade gliomas (6/41) was also significantly different (p < 0.0001). Conclusions: The semi-quantitative morphological scale allows an objective evaluation of gliomas, with an adequate correlation between the score, tumor grade and survival time.

Oligodendroglioma with Sarcomatous Transformation: Case Report and Literature Review

Oligodendrogliomas are infiltrative tumors of the central nervous systemconsidered to be morphologically stable and to offer a better prognosis. Here, we describe the case of a 36- year-old man with an initial diagnosis of oligodendroglioma, World Health Organization (WHO) grade II, who presented transformation to a sarcomatous form, while maintaining the oligodendroglial component as well as the genetic characteristics of the initial tumor without having undergone any complementary treatments previously. Despite the favorable genetic characteristics, the tumor presented poor response to complementary treatments, and rapid progression, including spinal metastasis.

Superior Sagittal Sinus Invasion by Malignant Glioma: Case Report and Literature Review

Anaplastic oligodendrogliomas (AOs) correspond to 23% of all oligodendrogliomas. They correspond to a tumor with malignant histological characteristics, focal or diffuse, associated with a worse prognosis. In the present case report, we describe the case of a 30-year-old female submitted to resection of a right parietal lesion whose histology showed to be an AO. She underwent complementary treatment with chemotherapy and radiotherapy according to the Roger Stupp protocol. Four years after the initial diagnosis, there was tumor recurrence within the superior sagittal sinus, with no evidence of recurrence elsewhere. In the literature, we have found no similar published case reinforcing the rarity of this condition.

Possível associação entre doença desmielinizante e neoplasias oligodendrogliais: relato de caso / Possible association between demyelinating disease and oligodendroglial tumors: a case report

Desde o primeiro relato de doença desmielinizante associada a tumores cerebrais por Scherer em 1938, inúmeros outros relatos de casos foram publicados fazendo associação desta doença com diferentes tumores primários do sistema nervoso central. Nosso trabalho descreve o caso de uma paciente de 23 anos com duas lesões encefálicas biopsiadas, mostrando inicialmente processo inflamatório desmielinizante que no seguimento desenvolve um oligodendroglioma anaplásico. A partir deste caso, realizamos uma revisão da literatura dessa associação específica, primeiramente publicada por Barnard e Jellinek em 1967, e ressaltamos a importância da diferenciação entre a forma desmielinizante tumefativa de uma neoplasia cerebral verdadeira. (AU)

Since the first report of demyelinating disease associated with brain tumors by Scherer in 1938, several other case reports have been published making association of this disease with different primary tumors of the central nervous system. Our paper describes the case of a 23 year old patient with two brain lesions, biopsied, initially showing a demyelinating inflammatory process that in the follow up develops an anaplastic oligodendroglioma. From this case, we conducted a literature review of this specific association, first published by Barnard and Jellinek in 1967, and emphasize the importance of difference in a tumefactive demyelinating lesions between of true brain neoplasm. (AU)

Oligodendroglioma anaplásico primario de la médula espinal / Primary anaplastic oligodendroglioma of the spinal cord

El oligodendroglioma de la médula espinal es una neoplasia extremadamente rara y solo se han reportado 52 casos en la literatura. Se reporta el caso de un paciente varón de 52 años, con paraplejia y un tumor en la medula espinal a nivel de C7 a T4. El diagnóstico final fue oligodendroglioma anaplásico con deleción del cromosoma 1p.

Spinal cord oligodendroglioma is an extremely unusual glial neoplasm and only 52 cases have been reported at this time. We report the case of a 52 year-old man with paraplegia and an intramedullary tumor of the spinal cord at levels C7 to T4. The final diagnosis was anaplastic oligodendroglioma with an isolated chromosome 1p deletion.

Dysembryoplastic neuroepithelial tumor originally diagnosed as astrocytoma and oligodendroglioma / Tumor neuroepitelial disembrioplásico diagnosticado originalmente como astrocitoma ou oligodendroglioma

Dysembryoplastic neuroepithelial tumor (DNT), described in 1988 and introduced in the WHO classification in 1993, affects predominantly children or young adults causing intractable complex partial seizures. Since it is benign and treated with surgical resection, its recognition is important. It has similarities with low-grade gliomas and gangliogliomas, which may recur and become malignant. OBJECTIVES: To investigate whether DNT was previously diagnosed as astrocytoma, oligodendroglioma, or ganglioglioma and to determine its frequency in a series of low-grade glial/glio-neuronal tumors. METHODS: Clinical, radiological, and histological aspects of 58 tumors operated from 1978 to 2008, classified as astrocytomas (32, including 8 pilocytic), oligodendrogliomas (12), gangliogliomas (7), and DNT (7), were reviewed. RESULTS: Four new DNT, one operated before 1993, previously classified as astrocytoma (3) and oligodendroglioma (1), were identified. One DNT diagnosed in 2002 was classified once more as angiocentric glioma. Therefore, 10 DNT (17.2%) were identified. CONCLUSIONS: Clinical-radiological and histopathological correlations have contributed to diagnose the DNT.

O tumor neuroepitelial disembrioplásico (DNT), descrito em 1988 e incorporado na classificação da OMS em 1993, acomete predominantemente crianças ou adultos jovens, causando crises convulsivas parciais complexas farmacorresistentes. Como é benigno e tratável com ressecção cirúrgica, seu reconhecimento é importante. Tem semelhanças com gliomas de baixo grau e gangliogliomas, que podem recidivar e malignizar. OBJETIVOS: Investigar se o DNT foi originalmente diagnosticado como astrocitoma, oligodendroglioma ou ganglioglioma e determinar sua frequência numa série de neoplasias gliais/glioneuronais de baixo grau. MÉTODOS: Foram revistos aspectos clínicos, radiológicos e histológicos de 58 neoplasias operadas entre 1978 e 2008, classificadas como astrocitomas (32, sendo 8 pilocíticas), oligodendrogliomas (12), gangliogliomas (7) e DNT (7). RESULTADOS: Foram identificados quatro novos DNT, um operado antes de 1993, originalmente diagnosticado como astrocitoma (3) e oligodendroglioma (1). Um DNT diagnosticado em 2002 foi reclassificado como glioma angiocêntrico. Portanto, 10 DNT (17,2%) foram identificados. CONCLUSÕES: Correlações clínico-radiológicas e histopatológicas contribuíram para o diagnóstico do DNT.

Tratamento de oligodendrogliomas em adultos: experiencia de 19 anos / Our experience in brain oligodendroglioma management in adults

Objetivo: apresentar nossa experiência de 19 anos na abordagem dos oligodendrogliomas cerebrais do adulto. Material e método: Quinhentos e cinco pacientes portadores de tumor cerebral foram operados em nosso serviço no período de 19 anos : em 30 casos (5,9 %) o diagnóstico histopatológico foi oligodendroglioma; dos quais, só em 26 casos logrou-se fazer um bom acompanhamento pósoperatório . Resultados: Nos 26 doentes estudados, a idade oscilou entre 23 e 72 anos.O diagnóstico histológico mostrou 17 oligodendrogliomas puros e 9 oligoastrocitomas. Em 16 casos Ki67 foi igual ou menor que 5 %, e em 7 era maior que 5 %. Os cromossomos 1p e 19 q foram estudados em 12 enfermos, com codeleção positiva em dois pacientes e negativa nos 10 restantes.O tratamento foi a observação clínica em dois casos, cirurgia em 20. Tres deles receberam radioterapia com quimioterapia, e em apenas um enfermo foi realizada a braquiterapia com iodo125. Atualmente, 19 (73 %) estão vivos e 7 (27 %) faleceram. A sobrevida dos falecidos teve uma média de quatro anos e dois meses, e uma mediana de quatro anos e meio. A sobrevida dos 19 pacientes que ainda vivem está com uma média de sete anos e dois meses, e uma mediana de cinco anos e oito meses. Conclusão: considerando-se a pequena série de casos, entendemos que a melhor alternativa de tratamento é a remoção completa da lesão. Estudos prospectivos randomizados deverão sugerir a melhor forma de diagnóstico e prognóstico que justifique as alternativas de tratamento.

Epilepsia por glioma de bajo grado de larga evolución: reporte de un caso / Epilepsy in low-grade glioma of long evolution: a case report

Los gliomas de bajo grado son tumores cerebrales primarios que a pesar de sus características histológicas benignas tienen una progresión lenta y poco predecible, con riesgo de cambio de estadio en el tiempo. Presentamos el caso de un paciente varón de 50 años con crisis epiléptica focales complejas algunas con generalización secundaria y leve hemiparesia derecha debida a la lesión hipodensa heterogénea confirmada por tomografía computarizada cerebral desde hace más de 11 años. A raíz de un estado epiléptico, fue evaluado con resonancia magnética nuclear cerebral y sometido a biopsia estereotáxica confirmándose la presencia de un oligodendroglioma. Las crisis epilépticas focales son una manifestación frecuente de los gliomas de bajo grado; la estirpe tipo glial de oligodendroglioma, un índice de Karnofsky menor o igual que 70 y la ausencia de captación de contraste en neuroimágenes, son factores que estuvieron asociados a la larga supervivencia en este caso.

The low-grade gliomas are primary neoplasic lesions that despite their benign histological features, have a slow and impredictable progression with a change stage risk over time. We describe a 50 year old male with complex focal seizures ones with secondary generalization and mild right hemiparesis due to heterogeneous hypodense lesion in CT over eleven years. Due to status epilepticus was evalued with MRI followed by stereotactic biopsy wich confirmed the presence of an oligodendroglioma. Focal seizures are common manifestations of low-grade gliomas. Many factors as glial type of oligodendroglioma, Karnofsky index less or equal than 70 and the absence of contrast enhancement on neuroimaging are conditions that were associated with long survival in this case.

Epilepsia asociada a tumores del sistema nervioso central en niños / Epilepsy associated with central nervous system tumors in children

Introducción: La prevalencia de epilepsia en pacientes con tumores del sistema nervioso central (SNC), producto del tumor per se o secundaria al tratamiento, es mayor que en la población general. El objetivo de este estudio es analizar la frecuencia y características de la epilepsia en pacientes pediátricos con tumores del SNC. Método: Estudio descriptivo retrospectivo, realizado a través de la revisión de fichas médicas de los pacientes pediátricos con tumores de SNC entre los años 2001- 2010 en Hospital Carlos Van Buren de Valparaíso. Resultados: Revisados 97 casos pediátricos de tumores del SNC, dieciocho (18,5 por ciento eran portadores de epilepsia, 2/3 sexo masculino, promedio de edad al diagnóstico del tumor fue 7 años y de primera crisis epiléptica 6 años 7 meses. Un 61 por ciento debutó con crisis epilépticas previo al diagnóstico de tumor. Dieciseis de 18 tumores (88 por ciento) fueron supratentoriales, comprometiendo principalmente el lóbulo temporal (9 de 16). Un 83 por ciento fueron neuroepiteliales, los más frecuentes fueron astrocitomas (50 por ciento). Dieciseis casos (88 por ciento) fueron sometidos a intervención quirúrgica. En relación a la epilepsia, 73 por ciento presentó crisis parciales complejas y 38 por ciento (6 casos de 16) evolucionó con epilepsia refractaria durante el seguimiento. Hubo 3 casos que fallecieron. Conclusión: Las crisis epilépticas, sobre todo las crisis focales fueron una manifestación frecuente en este grupo de pacientes pediátricos con tumores del SNC, especialmente en aquellos de localización supratentorial, ya sea como manifestación inicial y clave para el diagnóstico de tumor o durante su evolución. Un 38 por ciento evolucionó como epilepsia refractaria. El número de intervenciones quirúrgicas y la localización tumoral incidieron en la evolución de la epilepsia. Se enfatiza la importancia de una evaluación acuciosa y búsqueda etiológica, en niños que debutan con crisis epilépticas.

Introduction: Patients with brain tumors, show a higher prevalence of epilepsy than the general population, because of the tumor itself or as a consequence of treatment. The aim of this study is to analyze the incidence and characteristics of epilepsy in patients with brain tumors. Method: Retrospective descriptive study, medical records of pediatric patients with brain tumors between the years 2001-2010 from Hospital Carlos Van Buren were reviewed. Results: From 97 patients with brain tumors, 18 (18.5 percent) presented with epilepsy. Two thirds were males. Mean age for brain tumor diagnosis was 7 years, and for first epileptic seizure 6 years 7 months. In 61 percent epileptic seizures started previous to the tumor diagnosis. Sixteen out of 18 patients (88 percent) had supratentorial, mainly temporal tumors (9/16). 83 percent were neuroepithelial, from which astrocytomas were the most frequent (50 percent). Sixteen patients had surgical treatment (88 percent). Epileptic seizures were complex partial in 73 percent. 38 percent evolved to refractory epilepsy in an average of 5 year follow-up. Discussion: Epileptic seizures, mainly complex partial seizures, were a frequent manifestation of patients with brain tumors, specially supratentorial, as the initial event or in follow up. Thirty eight per cent evolved to refractory epilepsy. Number of surgical interventions and localization of the tumor affected the evolution of epileptic seizures. The relevance of searching etiology in children who have a first epileptic seizure is emphazised.

Nuestra experiencia en el manejo de los gliomas cerebrales de bajo grado, astrocitomas y oligodendrogliomas, en la infancia / Our experience in the management of low grade gliomas, astrocitomas and oligodendrogliomas in childhood

Objetivo: presentar nuestra experiencia en el manejo de gliomas cerebrales de bajo grado (GCBG) en la infancia. Material y método: se incluyeron 30 niños menores de 15 años operados de GCBG entre 1982 y 2008 (17 varones y 13 mujeres). Resultados: las convulsiones fueron la principal manifestación clínica en 24 niños (80%). La IRM fue el método diagnóstico de elección. En 24 pacientes se realizó EEG en el pre-operatorio. Astrocitomas fibrilares y oligodendrogliomas fueron la variedad más frecuente (28/30). Las modalidades terapéuticas fueron: en 19 casos sólo resección tumoral , en 8 exéresis más radioterapia, en 2 casos radiocirugía estereotáctica intersticial con I125 y en un paciente sólo se trato la hidrocefalia. Fallecieron 3 niños (10%); un niño por sepsis (por infección de la derivación del LCR), 6 años y 6 meses después de la cirugía; otro paciente falleció de un infarto de miocardio, 22 años después de la cirugía; y el tercer caso fue un paciente que paso de un ganglioglioma grado II a un glioblastoma multiforme, 10 años y 5 meses después de la primera cirugía. De los 27 niños que viven (90%), 25 (83.3%) están libres de crisis, y 2 (6.6%) tienen convulsions esporádicas con un EEG anormal. El rango de sobrevida fue entre 5 meses y 25 años, con una media de 12 años y 7 meses. Conclusión: la extensión de la resección quirúrgica es el factor pronóstico más importante. Se emplea radioterapia y quimioterapia cuando la exéresis fue incompleta, sobretodo cuando hay recidiva y signos de malignización. La braquiterapia es una buena opción terapéutica.

Gliomas de alto grado en adultos / High grade gliomas in adults

Malignant gliomas represent 80 percent of primary malignant central nervous system tumors. It generally presents with headache, epilepsy, cognitive change, dysphasia, or progressive hemiparesia. Current standard treatment for malignant glioma includes: surgical resection or biopsy, radiation therapy and/or chemotherapy. The prognosis of malignant gliomas is still dismal despite aggressive treatment attempts. Understanding the molecular pathogenesis of glioma may lead to a rational development of new therapies. This review summarizes the diagnosis and management of these tumors in adults.