Central nervous system high-grade neuroepithelial tumor with BCOR alteration: a short report

Central nervous system high-grade neuroepithelial tumors with BCOR alteration are rare. Currently, there are only 24 cases reported in the literature. These tumors are characterized by a change involving the BCOR gene and have a poor prognosis. Studies are needed to improve the current therapy and outcomes of these neoplasms. This case report describes the clinical history of a patient with this disease and aims to contribute to the current knowledge about this new entity.

Tratamiento quirúrgico de la epilepsia asociada a tumores neuroepiteliales de bajo grado / Surgical treatment of low-grade epilepsy-associated neuroepithelial tumors

Resumen Los tumores cerebrales son una causa importante de las epilepsias de difícil manejo, corresponden a un 20-30 % de los casos de cirugía de epilepsia refractaria. En este grupo de pacientes los tumores neuroepiteliales de bajo grado asociados a epilepsia (LEAT) son la principal causa, siendo los más frecuentes los tumores neuroepiteliales disembrioplásticos (DNT) y ganglioglioma (GG). En el presente artículo revisamos los cambios en la definición de epilepsia refractaria, avances en el diagnóstico por imágenes y el diagnóstico histopatológico con los nuevos marcadores moleculares, que han permitido un diagnóstico cada vez más precoz y certero. Se revisa también la cirugía resectiva que permite en estos casos una libertad de crisis cercana un 70-90% de los pacientes. Los mejores resultados en términos de control de crisis, se pueden alcanzar cuando la cirugía es precoz.

Brain tumors are an important cause of epilepsy that is difficult to manage, accounting for 20-30% of cases of refractory epilepsy surgery. In this group of patients, low-grade epilepsy-associated neuroepithelial tumors (LEAT) are the main cause and the most frequent being dysembryoplastic neuroepithelial tumors (DNT) and ganglioglioma (GG). In this article, we review the changes in the definition of refractory epilepsy, advances in diagnostic imaging, and histopathological diagnosis with new molecular markers, which have allowed for an increasingly early and accurate diagnosis. Resective surgery is also reviewed, allowing in these cases a seizure freedom close to 70-90% of patients. The best outcome in terms of seizure control can be achieved when early surgery is performed.

Neurocitoma Central Atípico: reporte de un caso en Ecuador / Atypical Central Neurocytoma: report of a case in Ecuador

El Neurocitoma Central es un tumor benigno infrecuente del Sistema Nervioso Central que afecta principalmente a adultos jóvenes. Clínicamente se manifiesta con síntomas neurológicos debido a la hipertensión intracraneana. Para establecer el diagnóstico es necesario el uso de estudios de imagen, histopatología e inmunohistoquímica. El tratamiento de elección es la resección quirúrgica total, acompañada en casos selectos de radioterapia y quimioterapia. El pronóstico que generalmente es bueno depende del porcentaje de resección quirúrgica y de las características inmunohistoquímicas del tumor. El presente trabajo tiene como objetivo reportar un caso de un tumor neuroepitelial de baja incidencia y actualizar el manejo diagnóstico y terapéutico. Se presenta el caso de una paciente afrodescendiente de 22 años con un Neurocitoma Central atípico intraventricular bilateral (dominante izquierdo) a quien se le realizó una resección microquirúrgica subtotal del tumor y se colocó un catéter ventricular externo de seguridad y, como terapia coadyuvante, se le administró quimioterapia y radioterapia concurrente. En el seguimiento a los 6 meses luego de la intervención, la paciente presenta una evolución clínica y neurológica favorable.

Central Neurocytoma is a rare benign tumor of the Central Nervous System that mainly affects young adults. Clinically, it manifests with headache, nausea, vomiting, and visual disturbances due to intracranial hypertension. To establish the diagnosis, the use of imaging, histopathology, and immunohistochemistry is necessary. The treatment of choice is total surgical resection, accompanied in selected cases of radiotherapy and chemotherapy. The prognosis that generally is good, depends on the percentage of surgical resection and the characteristics of the tumor. The present work aims to report the case of a low incidence neuroepithelial tumor, such as atypical Central Neurocytoma, and to describe clearly and concisely the main characteristics of the tumor, as well as the diagnostic and therapeutic methods that currently are considered of choice according to international guidelines. We present the case of a 22-year-old patient with an atypical intraventricular Central Neurocytoma who underwent a subtotal microsurgical resection of the tumor and a safety external ventricular catheter placement and received concurrent chemotherapy and radiotherapy as adjunctive therapy. In the follow up 6 months after the intervention, the patient presented a favorable clinical and neurological evolution.

Clinical Pearls and Advances in Molecular Researches of Epilepsy-Associated Tumors

Brain tumors are the second most common type of structural brain lesion that causes chronic epilepsy. Patients with low-grade brain tumors often experience chronic drug-resistant epilepsy starting in childhood, which led to the concept of long-term epilepsy-associated tumors (LEATs). Dysembryoplastic neuroepithelial tumor and ganglioglioma are representative LEATs and are characterized by young age of onset, frequent temporal lobe location, benign tumor biology, and chronic epilepsy. Although highly relevant in clinical epileptology, the concept of LEATs has been criticized in the neuro-oncology field. Recent genomic and molecular studies have challenged traditional views on LEATs and low-grade gliomas. Molecular studies have revealed that low-grade gliomas can largely be divided into three groups : LEATs, pediatric-type diffuse low-grade glioma (DLGG; astrocytoma and oligodendroglioma), and adult-type DLGG. There is substantial overlap between conventional LEATs and pediatric-type DLGG in regard to clinical features, histology, and molecular characteristics. LEATs and pediatric-type DLGG are characterized by mutations in BRAF, FGFR1, and MYB/MYBL1, which converge on the RAS-RAF-MAPK pathway. Gene (mutation)-centered classification of epilepsy-associated tumors could provide new insight into these heterogeneous and diverse neoplasms and may lead to novel molecular targeted therapies for epilepsy in the near future.

Clinical Pearls and Advances in Molecular Researches of Epilepsy-Associated Tumors

Brain tumors are the second most common type of structural brain lesion that causes chronic epilepsy. Patients with low-grade brain tumors often experience chronic drug-resistant epilepsy starting in childhood, which led to the concept of long-term epilepsy-associated tumors (LEATs). Dysembryoplastic neuroepithelial tumor and ganglioglioma are representative LEATs and are characterized by young age of onset, frequent temporal lobe location, benign tumor biology, and chronic epilepsy. Although highly relevant in clinical epileptology, the concept of LEATs has been criticized in the neuro-oncology field. Recent genomic and molecular studies have challenged traditional views on LEATs and low-grade gliomas. Molecular studies have revealed that low-grade gliomas can largely be divided into three groups : LEATs, pediatric-type diffuse low-grade glioma (DLGG; astrocytoma and oligodendroglioma), and adult-type DLGG. There is substantial overlap between conventional LEATs and pediatric-type DLGG in regard to clinical features, histology, and molecular characteristics. LEATs and pediatric-type DLGG are characterized by mutations in BRAF, FGFR1, and MYB/MYBL1, which converge on the RAS-RAF-MAPK pathway. Gene (mutation)-centered classification of epilepsy-associated tumors could provide new insight into these heterogeneous and diverse neoplasms and may lead to novel molecular targeted therapies for epilepsy in the near future.

Nuevos paradigmas en el diagnóstico y tratamiento de los tumores neuroepiteliales disembrioplásticos (DNT) / New paradigms in the diagnosis and treatment of dysembryoplastic neuroepithelial tumors (DNT)

Introducción: Los tumores neuroepiteliales disembrioplásticos (DNT) han sido considerados lesiones benignas y estables, sin embargo existen casos que han presentado evoluciones inusuales a lo largo de su seguimiento. Objetivo: Analizar las características clínicas, imagenológicas, quirúrgicas y hallazgos anatomopatológicos de un grupo de pacientes con diagnóstico original de DNT e identificar características que puedan prever una evolución atípica de los mismos. Métodos: Se analizaron retrospectivamente historias clínicas de 65 pacientes con diagnóstico confirmado de DNT desde 1985 a 2016. Se evaluó clínica, imágenes, cirugía, anatomía patológica y evolución a largo plazo haciendo hincapié en la recidiva tumoral y sus relaciones con los hallazgos de imágenes y clínica. Para el análisis estadístico se utilizó el Test X2 y en las muestras donde el valor esperado era menor a 5 se usó el Test de Fisher. Para comparar medias se utilizó el t-test. Resultados: La distribución etaria mostró un leve predominio masculino 1; 1,7, con una edad promedio de presentación de síntomas de 6,6 años, con una edad promedio a la cirugía de 9,7 años. La localización más frecuente fue el lóbulo frontal con el 45%, seguido por el lóbulo temporal con el 38% de los casos. Se realizó exéresis total solo en el 42% (27/65) de los pacientes. La patología mostró patrones típicos de DNT en el 90% de los casos. Las imágenes prequirúrgicas mostraron patrones típicos en un 65% (42/65) de los pacientes y atípicos en un 35% (23/65). El 46% (30/65) de los pacientes presentaron recidiva tumoral a lo largo del seguimiento. El tiempo promedio de la aparición de la recidiva fue de 4.5 años (6 meses a 13 años ). Los pacientes que recidivaron todos habían tenido exéresis parciales (30/30), entre los que no recidivaron el 77% (27/35) tenía exéresis completa y 23% (8/35) exéresis parcial. El síntoma más frecuente en las recidivas fue la aparición de crisis convulsivas en un 77%. El tiempo de seguimiento promedio fue de 9,2 años (±6,9 DS), el 85% de los pacientes están sin crisis convulsivas y el 55% (36/65) de estos están sin medicación. Conclusión: A pesar del comportamiento benigno en la mayoría de los DNT existen pacientes que pueden presentar recidiva. Estas recidivas no necesariamente implican transformación maligna a pesar de los cambios en las imágenes y la patología que pueden encontrarse. La exéresis completa de la lesión en la primera cirugía ha demostrado ser el factor pronóstico más importante. El seguimiento debe ser estricto, ya que se han visto recidivas posteriores a periodos libres de enfermedad prolongados. Es muy importante realizar un exhaustivo análisis de las imágenes pre y post quirúrgica para poder identificar características que nos permitan predecir comportamientos inusuales.

Introduction: Neuroepithelial dysembrioplastic tumors (DNT) have long been considered benign, stable lesions. However, some patients have unusual presentations and disease course. Objectives: To analyze clinical, imaging, surgical and anatomopathological findings in a cohort of patients with an original diagnosis of DNT, and identify characteristics that may predict an atypical disease course. Methods: We retrospectively analyzed the clinical records of 65 patients with a diagnosis of DNT confirmed from 1985 to 2017. Relationships between long-term disease evolution, emphasizing tumor recurrence, and baseline clinical, imaging, surgical and histopathological findings were assessed. For inter-group comparisons between patients with versus without tumor recurrence, categorical variables were analyzed using Pearson χ2 analysis or Fisher's Exact Test, as appropriate, while continuous variable means were compared via unpaired Student's t-tests. Results: Males out-numbered females by a ratio of 1.7 to 1. The average age at presentation with symptoms was 6.6 years, with an average age at surgery of 9.7 years. The frontal and temporal lobes were the most frequent tumor locations, accounting for 45 and 38% of cases, respectively. Gross total resection was achieved in 42% (27/65) of patients. Pathology was typical of DNT in 90% of cases, while pre-surgical images exhibited typical findings in 65%, atypical in 35%. Thirty patients (46%) experienced tumor recurrence over the course of follow-up. The average time to recurrence was 4.5 years (6 months to 13 years). All patients who relapsed had initially undergone partial excision (30/30). Among those whose tumor did not recur, 23% (8/35) had undergone partial excision. The most frequent presenting symptom with recurrences was seizures, which occurred in 77%. Overall follow-up of patients has been 9.2 years (±6.9 SD), amongst whom 85% are currently seizure-free, and 55% require no seizure medication Conclusions: Despite the benign behavior of most DNT, almost half of patients experience tumor recurrence. These recurrences do not necessarily involve malignant transformation, despite imaging and pathology changes that may be encountered. Extent of tumor resection (gross vs. partial) is the strongest predictor of tumor recurrence. Vigilant long-term monitoring is indicated, because recurrences may occur after prolonged disease-free periods.

Gliomatosis cerebri reporte de un caso y revisión de la literatura / Gliomatosis Cerebri case report and literatura review

La Gliomatosis Cerebri (GC) se define como un compromiso infiltrativo difuso de un tumor glial generalmente astrocítico que compromete al menos 3 lóbulos cerebrales de manera bilateral y usualmente la afección se extiende al tallo cerebral. Su incidencia representa aproximadamente el 1% de la totalidad de los tumores encefálicos y se presenta con mayor frecuencia en adultos jóvenes. El diagnóstico se establece por medio de la clínica, la imagenología y confrimación histológica. Las posibilidades terapéuticas son limitadas y la sobrevida cercana a los 2 años mostrando una alta mortalidad. Reportamos el caso de un paciente masculino de 11 años de edad quien fue atendido en el Hospital Militar Central de Bogotá Colombia donde se realizó el diagnóstico y se instauró el tratamiento

Gliomatosis Cerebri (GC) is defined as a diffuse infiltration of a glial tumor generally astrocytic that involves at least 3 cerebral lobes bilaterally and usually the condition extends to the brainstem. Its incidence represents approximately 1% of all brain tumors and occurs more frequently in young adults. The diagnosis is established for the clinic environment, imaging and histological confirmation. The therapeutic possibilities are limited and the survival close to 2 years showing a high mortality. We report the case of an 11-year-old male patient who was treated at the Central Military Hospital of Bogotá Colombia where the diagnosis was made and treatment was instituted

Epidemiological profile and findings found intra operatively of glioblastoma at the neurosurgery service of Santa Casa of Ribeirão Preto Hospital - SP - Brazil / Perfil epidemiológico y hallazgos intraoperatorios de los glioblastomas en el servicio de neurocirurgia del Hospital Santa Casa de Ribeirão Preto - SP - Brasil

Introducción: El Glioblastoma (GB) o Astrocitoma grado IV (OMS), representan 15-20 por ciento de los tumores del SNC y aproximadamente 50 por ciento de los gliomas en adultos. Objetivo: Revelar el perfil epidemiológico del HSCMRP, correlacionar los hallazgos macroscópicos y microscópicos durante la cirugía de enero de 2011 a noviembre de 2015. Método: Estudio epimedeológico observacional, descriptivo, retrospectivo, 429 casos de tumores intracraneales a partir de los datos obtenidos de los archivos de La institución y los registros patológicos de los pacientes tratados quirúrgicamente. Resultados: Tumores encontrados 429 y 96 (22,37 por ciento) GB, edad media de 59 años, predominante séptima década 33 por ciento. Una relación entre mujeres y hombres fue de 1:1.12, respectivamente. Las quejas más frecuentes: dolor de cabeza (58 por ciento), confusión (41 por ciento), hemiparesia 37 por ciento. Comorbilidades frecuentes: hipertensión (64 por ciento), diabetes (22 por ciento) y fumadores (24 por ciento). La topografía más común fue la frente izquierdo. El tiempo medio de inicio de los síntomas a la cirugía fue de 39 días. Resección completa en 76 por ciento de los casos. La duración media de la recurrencia fue de 96 días, en 68% de los pacientes se observó una exuberancia de los vasos trombosados durante la cirugía Hallazgos patológicos: necrosis 98 por ciento, mitosis atípica 96 por ciento, proliferación microvascular 73 por ciento y polimorfismo nuclear 57 por ciento. Discusión: GB estado del arte. Conclusión: Nuestros resultados son similares con la literatura. Observación intraoperatoria de vasos trombosados y agresividad tumoral en pacientes con peor pronóstico y menor tiempo de recaída sugiere que es real, sin embargo. El pequeño número de casos, necesita más investigación, incluyendo otros hallazgos y resultados inmunohistoquímicos.

Introduction: Glioblastoma (GB) or Astrocytoma grade IV (WHO), represent 15-20 percent of CNS tumors and approximately 50 percent of gliomas in adults. Objective: Reveal the epidemiological profile of HSCMRP, correlate macroscopic and microscopic findings during surgery treated from January 2011 to November 2015. Method: Observational epidemiological study, descriptive, retrospective, of medical records of 429 cases of intracranial tumors from data obtained from the files of the institution and pathological records of patients treated surgically. Results: Total tumors found 429 and 96 (22.37 percent) GB with a mean age of 59 years, predominant seventh decade of life 33 percent. A relationship between women and men was with little difference 1:1.12, respectively. The most common complaints were headache (58 percent), confusion (41 percent), hemiparesis 37 percent. Most prevalent comorbidities: hypertension (64 percent) and diabetes (22 percent) and smokers (24 percent). Most common topography were followed by left front lesions. The average time of onset of symptoms to surgery was 39 days. Complete resection in 76 percent of cases. The mean length of postoperative recurrence was 96 days, in 68 percent patients were noticed an exuberance of thrombosed vessels during surgery. Pathological findings: necrosis 98%, atypical mitosis 96%, microvascular proliferation 73 percent and nuclear polymorphism 57 percent. Discussion: GB state of art. Conclusion: Our results are very slightly with the literature. The association of intraoperative observation thrombosed vessels, and tumor aggressiveness in patients with worse prognosis and shorter time to relapse, suggests that it is real, however, the small number of cases, needs further investigation, including other findings and immunohistochemical results.

Molecular Testing of Brain Tumor

The World Health Organization (WHO) classification of central nervous system (CNS) tumors was revised in 2016 with a basis on the integrated diagnosis of molecular genetics. We herein provide the guidelines for using molecular genetic tests in routine pathological practice for an accurate diagnosis and appropriate management. While astrocytomas and IDH-mutant (secondary) glioblastomas are characterized by the mutational status of IDH, TP53, and ATRX, oligodendrogliomas have a 1p/19q codeletion and mutations in IDH, CIC, FUBP1, and the promoter region of telomerase reverse transcriptase (TERTp). IDH-wildtype (primary) glioblastomas typically lack mutations in IDH, but are characterized by copy number variations of EGFR, PTEN, CDKN2A/B, PDGFRA, and NF1 as well as mutations of TERTp. High-grade pediatric gliomas differ from those of adult gliomas, consisting of mutations in H3F3A, ATRX, and DAXX, but not in IDH genes. In contrast, well-circumscribed low-grade neuroepithelial tumors in children, such as pilocytic astrocytoma, pleomorphic xanthoastrocytoma, and ganglioglioma, often have mutations or activating rearrangements in the BRAF, FGFR1, and MYB genes. Other CNS tumors, such as ependymomas, neuronal and glioneuronal tumors, embryonal tumors, meningothelial, and other mesenchymal tumors have important genetic alterations, many of which are diagnostic, prognostic, and predictive markers and therapeutic targets. Therefore, the neuropathological evaluation of brain tumors is increasingly dependent on molecular genetic tests for proper classification, prediction of biological behavior and patient management. Identifying these gene abnormalities requires cost-effective and high-throughput testing, such as next-generation sequencing. Overall, this paper reviews the global guidelines and diagnostic algorithms for molecular genetic testing of brain tumors.

Dysembryoplastic Neuroepithelial Tumor: A case report

@#This reports a case of dysembryoplastic neuroepithelial tumor (DNET) in a 5-year old male presenting with visual hallucination and seizures. Diagnostic workup revealed a homogenous cystic tumor located in the right temporo-parietal area which was considered as a low grade glioma. The patient underwent endoscopic third ventriculostomy with complete tumor excision and biopsy, revealing NET. Findings were confirmed by immunohistochemical staining with glial fibrillary action protein (GFAP), Alcian blue and synaptophysin. DNET is a recently described intracranial tumor under the World Health Organization classification of central nervous system (CNS) tumors. It is a unique entity of neuroglial tumors with excellent prognosis. Its worldwide incidence among all neuroepithelial tumors is 1.2% in patients under 20 years and 0.2% among patients over 20 years. This is the first case of DNET in the country as well as in our institution. Key points on the clinical manifestation, approach to diagnosis, distinctive radiologic and histopathologic characteristics, and management are discussed.

Astroblastoma in a Young Female Patient: A Case Report and Literature Review of Clinicopathological, Radiological and Prognostic Characteristics and Current Treatment Strategies

Astroblastoma is an uncommon glial tumor with predominant manifestation in the young age. Herein, we report a case of 18-year-old astroblastoma female patient who presented with history of two months headache. Magnetic resonance imaging (MRI) of the brain demonstrated well circumscribed, intra-axial abnormal signal intensity lesion (size=5×4 cm²) in the right parieto-occipital region of the brain. The patient underwent complete surgical resection of the gross tumor, as confirmed by an early post-surgical MRI (i.e., within 24 hours of surgery). Histopathological examination revealed neoplastic lesion exhibiting perivascular pseudo-rosettes with centrally hyalinized blood vessel and focal nuclear pleomorphism. Immunohistochemistry staining illustrated reactivity for glial fibrillary acidic protein and integrase interactor 1 (INI-1). These features rendered the diagnosis of astroblastoma. A comprehensive review of the current literature to summarize the clinicopathological and radiological characteristics, prognostic factors and current treatment strategies of astroblastomas is also presented. Our study would expand the pool of this uncommon tumor towards its better understanding and optimal treatment.

Aggressive Supratentorial Ependymoma, RELA Fusion-Positive with Extracranial Metastasis: A Case Report

Ependymoma is the third most common pediatric primary brain tumor. Ependymomas are categorized according to their locations and genetic abnormalities, and these two parameters are important prognostic factors for patient outcome. For supratentorial (ST) ependymomas, RELA fusion-positive ependymomas show a more aggressive behavior than YAP1 fusion-positive ependymomas. Extracranial metastases of intra-axial neuroepithelial tumors are extremely rare. In this paper, we report a case of aggressive anaplastic ependymoma arising in the right frontoparietal lobe, which had genetically 1q25 gain, CDKN2A homozygous deletion, and L1CAM overexpression. The patient was a 10-year-old boy who underwent four times of tumor removal and seven times of gamma knife surgery. Metastatic loci were scalp and temporalis muscle overlying primary operation site, lung, liver, buttock, bone, and mediastinal lymph nodes. He had the malignancy for 10 years and died. This tumor is a representative case of RELA fusion-positive ST ependymoma, showing aggressive behavior.

Refractory epilepsy in children with brain tumors. The urgency of neurosurgery / Epilepsia refratária em crianças com tumores cerebrais. A urgência de neurocirurgia

ABSTRACT In order to verify indications for surgery, 27 patients with refractory epileptic seizures and brain tumor, aged up to 19 years at the time of surgery, were studied between 1996 and 2013 and followed up for at least one year. The mean interval between the onset of seizures and the diagnosis of the tumor was 3.6 years, and from diagnosis to the surgery, 18 months. The location of the tumor was in the temporal lobe in 16, with ganglioglioma and dysembryoplastic neuroepithelial tumors being the most frequent. Among the patients, 92.5% and 90.4% were seizure-free in the first and fifth year after surgery, respectively. Twelve of 16 children were successful in becoming drug-free, with complete withdrawal by 3.2 years. Surgery proved to be potentially curative and safe in these cases, suggesting that the tumor diagnosis and surgery cannot be postponed.

RESUMO A fim de verificar os aspectos da indicação cirúrgica, vinte e sete pacientes com epilepsia refratária secundária a tumor cerebral, com idade de até 19 anos na cirurgia, operados entre 1996 e 2013 e seguidos por pelo menos um ano, foram estudados. O intervalo médio entre o início das crises e o diagnóstico do tumor foi de 3,6 anos, e deste para a cirurgia, 18 meses. A localização do tumor foi lobo temporal em 16, sendo ganglioglioma e DNET os tipos mais frequentes. Entre os pacientes, 92,5% e 90,4% estavam livres de crises no primeiro e no quinto ano após a cirurgia, respectivamente. Doze de 16 crianças obtiveram sucesso na retirada de drogas, com a média de tempo de 3,2 anos após o procedimento. A cirurgia provou ser potencialmente curativa e segura nestes casos, o que sugere que perante o diagnóstico de tumor esta não pode ser adiada.

Teratoma inmaduro de ovario Reporte de un caso / Ovarian immature teratoma:case report

Introducción: El teratoma inmaduro de ovario es una patología poco frecuente que se lo encuentra en mujeres jóvenes. Son tumores compuestos a partir de las capas germinales en la que los estudios de imagen son de ayuda diagnóstica, pero el examen histopatológico establece el diagnóstico definitivo. Existe controversia en el pronóstico y dependiendo del estadio se elije tratamiento quirúrgico o quimioterapia. Caso: Presentamos el caso de una paciente de 11 años que acude a emergencia con dolor abdominal, fluido transvaginal, presencia de masa en fosa iliaca izquierda de aproximadamente 20 cm. La biopsia reporta Teratoma Inmaduro. Se realiza exéresis total del tumor coadyuvante quimioterapia, con evolución favorable. Discusión: Este es un caso poco frecuente de teratoma inmaduro con limitada información respecto al pronóstico y tratamiento. Se trata de una paciente joven con una tumoración de alto grado (Grado II), considerado un factor pronóstico adverso con un índice de sobrevida a los dos años del 50%. Sin embargo, la paciente tuvo una excelente respuesta a la quimioterapia y evolución.

Introduction: The immature ovarian teratoma is a rare disease that affects young women. These tumors grow up from germ layers, therefore, histopathologic reports make the final diagnosis. There is still controversy regarding prognosis. Depending on the stage, surgery and chemotherapy are the treatment options. Case report: We report the case of a 11 year-old patient who came to the emergency room complaining of abdominal pain, transvaginal fluid discharge and a 20 cm mass located in the left lower quadrant abdomen. Pathology reported Immature teratoma. The excision of the tumor with adjuvant chemotherapy was performed with a good outcome. Discusion: This is rare case of immature teratoma with limited references in the medical literature regarding prognosis and treatment, this is a young patient with a high grade tumor (Grade II) that is considered an adverse prognostic factor, with 50% survival rate within two years. Our patient had an excellent response to chemotherapy.

A rare case of dysembryoplastic neuroepithelial tumor combined with encephalocraniocutaneous lipomatosis and intractable seizures / 소아과

Encephalocraniocutaneous lipomatosis (ECCL) is a rare neurocutaneous syndrome that affects ectomesodermal tissues (skin, eyes, adipose tissue, and brain). The neurologic manifestations associated with ECCL are various including seizures. However, ECCL patients very rarely develop brain tumors that originate from the neuroepithelium. This is the first described case of ECCL in combination with dysembryoplastic neuroepithelial tumor (DNET) that presented with intractable seizures. A 7-year-old girl was admitted to our center because of ECCL and associated uncontrolled seizures. She was born with right anophthalmia and lipomatosis in the right temporal area and endured right temporal lipoma excision at 3 years of age. Seizures began when she was 3 years old, but did not respond to multiple antiepileptic drugs. Brain magnetic resonance (MR) imaging performed at 8 and 10 years of age revealed an interval increase of multifocal hyperintense lesions in the basal ganglia, thalamus, cerebellum, periventricular white matter, and, especially, the right temporal area. A nodular mass near the right hippocampus demonstrated the absence of N-acetylaspartate decrease on brain MR spectroscopy and mildly increased methionine uptake on brain positron emission tomography, suggesting low-grade tumor. Twenty-four-hour video electroencephalographic monitoring also indicated seizures originating from the right temporal area. Right temporal lobectomy was performed without complications, and the nodular lesion was pathologically identified as DNET. The patient has been seizure-free for 14 months since surgery. Although ECCL-associated brain tumors are very rare, careful follow-up imaging and surgical resection is recommended for patients with intractable seizures.

Massive Calcified Cerebellar Pilocytic Astrocytoma with Rapid Recurrence : A Rare Case

Pilocytic astrocytomas (PAs) are World Heath Organization Grade I tumors and are most common in children. PA calcification is not a common finding and has been reported more frequently in the optic nerve, hypothalamic/thalamus and superficially located cerebral tumors. We present a cerebellar PA in a 3-year-old male patient with cystic components and massive calcification areas. The residual tumor grew rapidly after the first operation, and the patient was operated on again. A histopathological examination revealed polar spongioblastoma-like cells. Massive calcification is not a common feature in PAs and can lead to difficulties in radiological and pathological differential diagnoses.

Dysembryoplastic Neuroepithelial Tumors

Dysembryoplastic neuroepithelial tumor (DNT) is a benign glioneuronal neoplasm that most commonly occurs in children and young adults and may present with medically intractable, chronic seizures. Radiologically, this tumor is characterized by a cortical topography and lack of mass effect or perilesional edema. Partial complex seizures are the most common presentation. Three histologic subtypes of DNTs have been described. Histologically, the recognition of a unique, specific glioneuronal element in brain tumor samples from patients with medically intractable, chronic epilepsy serves as a diagnostic feature for complex or simple DNT types. However, nonspecific DNT has diagnostic difficulty because its histology is indistinguishable from conventional gliomas and because a specific glioneuronal element and/or multinodularity are absent. This review will focus on the clinical, radiographic, histopathological, and immunohistochemical features as well as the molecular genetics of all three variants of DNTs. The histological and cytological differential diagnoses for this lesion, especially the nonspecific variant, will be discussed.

Hipertensão intracraniana relacionada a um raro padrão de neoplasia: gliomatose cerebral / Intracranial hypertension related to a rare pattern of neoplasm: gliomatosis cerebri

Gliomatose cerebral (GC) é um raro padrão de crescimento dos gliomas cerebrais, que infiltra difusamente os hemisférios cerebrais e estruturas adjacentes. As características radiológicas e histopatológicas são fundamentais para estabelecer ante mortem o diagnóstico. Em geral, a GC corresponde a uma neoplasia com diferenciação astrocítica e de grau histológico III / alto grau, a qual apresenta um curso clínico variável. No presente relato, os autores apresentam um caso de GC determinando hipertensão intracraniana, descrevem os principais achados histopatológicos e o diagnóstico diferencial desta neoplasia pouco frequente (AU)

Gliomatosis cerebri (GC) is a rare growth pattern of brain gliomas, which diffusely infiltrates the cerebral hemispheres and adjacent structures. Radiological and histopathological characteristics are key to establish ante-mortem diagnosis. In general, GC corresponds to a neoplasm with astrocytic differentiation and histological grade III/high degree, which presents a variable clinical course. In this report, the authors present a case of GC determining intracranial hypertension and describe the main histopathological findings and the differential diagnosis of this uncommon neoplasm (AU)

Procarbazine, CCNU, and Vincristine Chemotherapy in Gliomatosis Cerebri

A 49-year-old female patient was admitted due to memory disturbances. Magnetic resonance (MR) imaging suggested gliomatosis cerebri (GC), which had spread to both insular lobes, both frontal and basal ganglia and the brain stem. A stereotactic biopsy was performed at the high signal intensity area of the T2-weighted MR image, and the revealed a diffuse astrocytoma. Radiation therapy was judged not to be an appropriate treatment for the patient because of her cognitive impairment. A combinatorial chemotherapy regiment consisting of Procarbazine, CCNU, and Vincristine (PCV) was agreed upon after discussion. The patient underwent six cycles of PCV chemotherapy (a full dose was applied until the 3rd cycle, and dose then was reduced to 75% for the remaining cycles). Although the patient exhibited side effects such as bone marrow suppression and gastrointestinal symptoms, these were managed by medication. Over the 28 months following initiation of treatment, the high signal area in the right frontal and temporal lobes in the T2-weighted MR image decreased, and the patient's cognitive function [global deterioration scale (GDS) 4 points, mini-mental state examination (MMSE) 25 point] also improved (GDS 1 points, MMSE 29 points). PCV chemotherapy can therefore be an alternative therapeutic option for patients with GC who cannot be treated with radiation therapy or other chemotherapies.

Gliomatosis cerebral: a propósito de dos casos clínicos / Gliomatosis cerebri (brain tumor): two clinical cases

Introducción: la gliomatosis cerebral (GC) es una neoplasia neuroepitelial que afecta al menos dos lóbulos. La clínica es inespecífica, siendo la imagenología y la anatomía patológica los pilares diagnósticos fundamentales. Tiene una baja incidencia con un promedio de presentación entre la cuarta y quinta década de la vida. Material y método: se presentan dos casos clínicos, uno se manifiesta con depresión de conciencia asociada a alteraciones conductuales, y otro con inestabilidad en la marcha. En ambos casos el diagnóstico se realizó mediante resonancia magnética y anatomía patológica. Resultados: los dos pacientes presentaron una sobrevida de dos meses posterior al diagnóstico, no logrando recibir tratamiento dada la mala evolución. Conclusiones: la GC es una neoplasia de baja incidencia con formas clínicas de presentación variable cuyo diagnóstico se basa en dos pilares fundamentales: imagenológico y anátomo-patológico. La incorporación de quimioterapia (temozolamida) al tratamiento clásico basado en la radioterapia parece ofrecer mayores tasas de respuestas aunque su impacto en la supervivencia sigue siendo escaso. El pronóstico es malo, con una sobrevida de entre 6 a 12 meses.

Introduction: gliomatosis cerebri (GC) is a neoepithelium neoplastic disease affecting at least two lobes. Its clinical presentation is non-specific, imagenology and pathological anatomy studies being the main diagnostic pillars. The incidence of GC is low and average age of presentation is in the forties and fifties years of age.Method: The study presents two clinical cases; the first one of which manifests as depressed consciousness associated to alterations in behavior, the second one manifesting as unsteady gait. In both cases diagnosis was based on magnetic resonance and pathological anatomy.Results: both patients evidenced a two month survival rate subsequent to diagnosis, and no treatment was applied given the bad evolution of the disease.Conclusions: GC is a low incidence neoplastic disease with varied forms of clinical presentation. Its diagnosis is based on two main pillars: imagenology and pathological anatomy studies. Associating chemotherapy (temozolomide) to the classic treatment of radiotherapy seems to result in higher response rates, although its impact on survival is still poor. Prognosis is bad, and survival rates range from 6 to 12 months.

Introdução: a gliomatose cerebral (GC) é uma neoplasia neuroepitelial que afeta ao menos dois lóbulos. A clínica não é específica, sendo a imagenologia e a anatomia patológica os pilares do diagnóstico. Tem baixa incidência apresentando-se em aproximadamente a metade dos casos na quarta e quinta décadas de vida. Material e método: são apresentados dois casos clínicos – o primeiro se manifesta com depressão de consciência associada a alterações de conduta, e outro com instabilidade da marcha. Em ambos os casos o diagnóstico foi realizado utilizando ressonância magnética e anatomia patológica. Resultados: os dois pacientes apresentaram uma sobrevida de dois meses posterior ao diagnóstico, não podendo receber tratamento devido à má evolução. Conclusões: a GC é uma neoplasia com baixa incidência e formas clínicas variáveis cujo diagnóstico está baseado nos resultados da imagenologia e da anatomia patológica. A incorporação de quimioterapia (temozolamida) ao tratamento clássico baseado na radioterapia parece oferecer maiores taxas de resposta embora seu impacto na sobrevida continue sendo escasso. O prognóstico é ruim, com uma sobrevida de 6 a 12 meses.