Clinical, demographic, anatomopathological, and molecular findings in patients with medulloblastoma treated in a single health facility / Achados clínicos, demográficos, anatomopatológicos e moleculares de portadores de meduloblastoma tratados em uma única instituição

ABSTRACT Objective: To describe the clinical, demographic, anatomopathological, molecular, and survival characteristics of patients with medulloblastoma. Methods: Retrospective study based on patient information obtained from the review of medical records. Overall and event-free survival were analyzed using the Kaplan-Meier estimator, and the curves were compared by the log-rank test. Results: Among the patients investigated, 70 were male (66%), and age at diagnosis ranged from 2 months to 22 years. The most frequent signs and symptoms were headache (80.8%) and vomiting (75.8%). Regarding treatment, most patients (63.2%) underwent complete surgical resection, with a predominance of classic histology (63.2%). The 5-year overall survival rate was 67.9%, and the 10-year rate was 64.2%. Patients with molecular profile characteristic of the wingless (WNT) subgroup had a better prognosis, with 5-year overall survival of 75%. Conclusions: The clinical, demographic, anatomopathological, and molecular characteristics of patients with medulloblastoma described in the present study were mostly similar to those reported in the literature. Patients submitted to complete tumor resection had better clinical outcomes than those who underwent incomplete resection/biopsy. Patients classified as high-risk showed worse overall and event-free survival than those in the standard-risk group, and the presence of metastasis at diagnosis was associated with recurrence.

RESUMO Objetivo: Descrever as características clínicas, demográficas, anatomopatológicas, moleculares e de sobrevida de pacientes portadores de meduloblastoma. Métodos: Estudo retrospectivo, no qual as informações dos pacientes foram obtidas pela revisão dos prontuários médicos. Análises de sobrevida global e de sobrevida livre de eventos foram realizadas por meio da construção de curvas de Kaplan-Meier e a comparação entre as curvas foi feita pelo teste log-rank. Resultados: Entre os pacientes analisados, 70 pertenciam ao sexo masculino (66%) e a idade ao diagnóstico variou de dois meses a 22 anos. Os sinais e sintomas de maior frequência foram cefaleia (80,8%) e vômitos (75,8%). Em relação ao tratamento, a maioria (63,2%) dos pacientes foi submetida à ressecção cirúrgica total e apresentava como histologia predominante a forma clássica (63,2%). A taxa de sobrevida global em cinco anos foi de 67,9% e, em 10 anos, de 64,2%. Os pacientes com perfil molecular característico do subgrupo wingless (WNT) apresentaram melhor prognóstico, com sobrevida global em cinco anos de 75%. Conclusões: As características clínicas, demográficas, anatomopatológicas e moleculares dos pacientes com meduloblastoma descritas no presente estudo foram majoritariamente semelhantes às descritas na literatura. Pacientes submetidos à ressecção completa do tumor tiveram melhor evolução clínica do que aqueles com ressecção incompleta/biópsia. Pacientes estratificados como de alto risco apresentaram pior sobrevida global e livre de eventos do que o grupo standard e a presença de metástases ao diagnóstico se mostrou associada à ocorrência de recidiva da doença.

Congenital medulloblastoma presented in the neonatal period

Congenital medulloblastoma is a rare brain tumor that appears in less than 1% of pediatric patients. Congenital medulloblastoma has a poor prognosis and should be suspected in patients with clinical manifestations of hyporeactivity, slow suction reflexes, and the presence of hydrocephalus. Herein we present the case of a 12-day-old female newborn who developed non-communicative hydrocephalus, hyporeactivity, and hyporeflexia. Magnetic resonance imaging of her brain showed a heterogeneous and cystic mass on the posterior cranial fossa. A suboccipital craniotomy was performed. The histopathologic analysis reported a congenital medulloblastoma. She remained in hospital until her death at 112 days old. This is one of the first case reports with clinical-radiological and pathological documentation. Awareness of this diagnosis can allow prenatal intervention, rendering a better prognosis. This case report exemplifies the importance of good prenatal follow-up.

Melanocitoma meníngeo del ángulo pontocerebeloso: claves imagenológicas para su abordaje / Cerebellopontine meningeal melanocytoma: keys for imaging diagnostic approach

Resumen: Las lesiones del ángulo pontocerebeloso (APC) representan el 6 al 10% de las neoplasias intracraneales, siendo los schwannomas vestibulares y meningiomas los más comunes. Sin embargo, hasta el 15% pueden ser otras lesiones, entre ellas las derivadas a partir de restos de células melanocíticas presentes en las leptomeninges. El diagnóstico diferencial de las patologías tumorales del APC es extenso, siempre teniendo en cuenta las lesiones más comunes. Sin embargo, cuando las características radiológicas no son las esperadas, el enfoque debe orientarse hacia las lesiones inusuales, poniendo en contexto las diferentes estirpes celulares que pueden dar origen a las neoplasias en esta localización, como las neoplasias melanocíticas. Se presenta el caso de un masculino de 74 años con síndrome cerebeloso de tórpida evolución, al cual se le realiza RM de cerebro contrastada, identificando una lesión de base dural en el APC izquierdo, con hiperintensidad de señal en T1 e hipointensidad en T2, atípico para las lesiones más comunes en esta región, que sugiere su contenido melanocítico.

Abstract: Cerebellopontine angle tumors (CPA) represent approximately 6 to 10% of intracranial tumors. Vestibular Schwannomas and meningiomas are the most common, however up to 15% can be of other origin, including from melanocytes derived from the neural crest. The differential diagnosis of CPA pathologies is extensive, always taking into account the most common ones. However, if the radiological characteristics are not the expected, the approach should be directed towards unusual lesions, putting into context the different cell lines that can give rise to the neoplasm at this location, such as melanotic neoplasms. We present a case of a 74-year-old male, who presented with a cerebellar syndrome. Due to an atypical clinical evolution, a contrast enhanced head MRI was performed, revealing a dural based tumor on the left CPA, which was hyperintense on T1 and hypointense on T2 weighted sequences, which is not expected from the common lesions at this region and suggested it's melanotic content.

Cerebellar Dysplastic Gangliocytoma: Case Report

Lhermitte-Duclos disease (LDD), or cerebellar dysplastic gangliocytoma, is a rare type of cerebellar tumor, from unknown origin. Patients can be asymptomatic for several years, but there are usually imprecise neurological signs for long periods.

A Rare WHO Grade I Lesion of the Posterior Fossa with Recurrence Biological Behavior ­ Dysplastic Gangliocytoma of the Cerebellum: Case Report

Dysplastic gangliocytoma of the cerebellum (DGC) or Lhermitte-Duclos Disease is a rare lesion (World Health Organization [WHO] grade I) characterized by thickened folia and replacement of the internal granular layer by abnormal ganglion cells. More commonly, the compromised patients are young adults presenting ataxia, seizures, obstructive hydrocephalus, and increased intracranial pressure. Dysplastic gangliocytoma of the cerebellum is intimately associated with Cowden syndrome, a hereditary disorder caused by a germline mutation in the PTEN tumor suppressor gene on chromosome 10q23. Large neurons of DCG show vesicular nuclei with prominent nucleoli. Expansion of the internal granular layer determines vacuolization of the molecular layer and white matter, which can be related to the bright stripes identified on T2-weighted magnetic resonance imaging. Herein, the authors report a female patient who developed long- time recurrence of DGC and discuss pathological findings and differential diagnosis of this rare cerebellar lesion.

Meningioma of the Fourth Ventricle: Literature Review

Meningiomas are among the most common central nervous system tumors, with an incidence that ranges from 15% to 40% of intracranial tumors. Of these, only 0.5% to 3% are intraventricular, and the rarest of them occurs in the fourth ventricle. Fourth-ventricle meningiomas originate generally fromthe choroid plexus and have no dural adhesions. Most often, they manifest in young patients, around 41 years of age, with a possible predominance in females, through intracranial hypertension and cerebellar syndromes. The treatment consists of surgical resection, which commonly presents good results due to the characteristics of the tumor. So, for better preoperative planning, the radiological differentiation of the most frequent tumors in this location is important. Themost common histologic subtypes are fibroblastic and meningothelial, both grade I according to the World Health Organization (WHO), although there are reports of tumors of grades II and III. We report a case ofmeningioma of the fourth ventricle operated in our institution, and we have conducted a literature review, through which we found that 57 cases have been reported so far, with the first one reported in 1938.

Metachronic breast and cerebellar neoplasm in a young patient / Neoplasias mamária e cerebelar metacrônicas em uma paciente jovem

Abstract Several factors trigger the development of genetic mutations that are responsible for causing a neoplasm. Medulloblastoma is a malignant and invasive cerebellar neoplasm, that affects children and young adults. Mucinous carcinoma is a special type of breast cancer. Being a special atypical subtype of invasive carcinoma, it most frequently affects women of advanced age and represents 1 to 7% of all breast cancers. The reported case aims to show the rarity of the occurrence of desmoplastic medulloblastoma and mammary mucinous carcinoma in a young patient in a short period of time, in different sites, without direct anatomical attachment and without occurrence of metastasis. Initially, this patient had a desmoplastic medulloblastoma and was treated with lumpectomy and radiotherapy. After 13 months, the patient was diagnosed with a mucinous breast carcinoma, underwent mastectomy, adjuvant chemotherapy and is currently undergoing endocrinotherapy. We conclude, based on the metachronous characteristic of the neoplasia and clinical characteristics, that the patient is likely to have Li-Fraumeni syndrome, an autosomal dominant disease with mutation of the TP53 gene, which is the the main involved. Because the patient does not present all the characteristics of the phenotype of the syndrome, she can thus be classified as having Li-Fraumeni variant or Li-Fraumeni-like syndrome.

Resumo Diversos fatores desencadeiam o desenvolvimento de mutações genéticas que são responsáveis por originar uma neoplasia. O meduloblastoma é uma neoplasia cerebelar maligna e invasiva que acomete crianças e adultos jovens. O carcinoma mucinoso é um tipo de câncer de mama especial por ser um subtipo atípico de carcinoma invasivo, que acomete com maior frequência mulheres de idade avançada e representa entre 1 a 7% do total de neoplasias mamárias. O caso relatado tem como objetivo mostrar a raridade da ocorrência do meduloblastoma desmoplásico e carcinoma mucinoso mamário em uma paciente jovem em um curto período de tempo, em diferentes sítios sem ligação anatômica direta e sem ocorrência de metástase. Inicialmente, esta paciente possuía um meduloblastoma desmoplásico e foi tratada com tumorectomia e radioterapia. Após 13 meses, a paciente foi diagnosticada com carcinoma mucinoso de mama, sendo submetida a mastectomia, quimioterapia adjuvante e atualmente está sendo tratada com endocrinoterapia. Concluímos, com base na característica metacrônica da neoplasia e características clínicas, que a paciente apresenta a síndrome de Li-Fraumeni, doença autossômica dominante com mutação do gene TP53, que é o principal gene envolvido nesta síndrome. Por não apresentar as características completas do fenótipo da síndrome, a paciente pode assim ser classificada como portadora de uma variante da síndorme de Li-Fraumeni ou síndrome do tipo Li-Fraumeni.

Efectos endocrinológicos tardíos del tratamiento oncológico en supervivientes de meduloblastoma / Endocrinological late effects of oncologic treatment on survivors of medulloblastoma

INTRODUCCIÓN: La radioterapia, quimioterapia y la cirugía empleada en el tratamiento de los tumores cerebrales tienen efectos en el eje hipotálamo-hipofisario y pueden resultar en disfunción endocrina hasta en el 96% de los casos. PACIENTES Y MÉTODO: Estudio retrospectivo y descriptivo en pacientes diagnos ticados de meduloblastoma sometidos a tratamiento con quimio y radioterapia en los últimos 20 años en un hospital terciario. Se analizan variables edad, sexo, peso, talla, índice de masa corporal (IMC) al final del seguimiento, estadio de maduración sexual, niveles séricos de TSH y T4 libre, ACTH/cortisol e IGF-1, FSH, LH, estradiol, testosterona, perfil lipídico (colesterol total) y prueba de función dinámica de hormona de crecimiento. RESULTADOS: Muestra total de 23 pacientes. El déficit de hormona de crecimiento es la secuela más frecuente (82 %) seguido de disfunción ti roidea (44,8%) y disfunción puberal (24,1%). Solo se diagnosticó un caso de diabetes insípida y 2 casos de déficit de corticotrofina. CONCLUSIONES: El seguimiento a largo plazo de los supervivientes de meduloblastoma tratados con quimio y radioterapia revela una prevalencia muy alta de disfun ción endocrina, particularmente de deficiencia de hormona del crecimiento y de hipotiroidismo. Creemos oportuna la monitorización y el seguimiento a largo plazo de estos pacientes con el fin de garantizar un manejo terapéutico adecuado de aquellas disfunciones tratables.

INTRODUCTION: Radiation therapy, chemotherapy, and surgery used to treat brain tumors have effects on the hy pothalamic-pituitary-adrenal axis and can result in endocrine dysfunction in up to 96% of cases. PATIENTS Y METHOD: Retrospective and descriptive study in patients diagnosed with medulloblasto ma who underwent treatment with chemo and radiotherapy in the last 20 years in a tertiary hospital. The variables analyzed were age, sex, weight, height, body mass index (BMI) at the end of follow-up, sexual maturity stage, serum levels of TSH and free T4, ACTH/cortisol and IGF-1, FSH, LH, estradiol, testosterone, lipid profile (total cholesterol), and growth hormone dynamic function test. RESULTS: Total sample of 23 patients. Growth hormone deficiency is the most frequent sequelae (82%) fo llowed by thyroid dysfunction (44.8%), and disorders of puberty (24.1%). Only one case of diabetes insipidus and two cases of corticotropin deficiency were diagnosed. CONCLUSIONS: Long-term follow- up of medulloblastoma survivors treated with chemo and radiotherapy reveals a very high prevalence of endocrine dysfunction, especially growth hormone deficiency and hypothyroidism. We believe that monitoring and long-term follow-up of these patients is necessary in order to ensure adequate therapeutic management of those treatable dysfunctions.

Lhermitte-Duclos Disease and Cowden Syndrome: A Case Report and Literature Review

Lhermitte-Duclos disease (LDD), also known as dysplastic gangliocytoma of the cerebellum, is a rare, usually benign, slow-growing tumor, that commonly affects patients aged 30 to 50 years-old. The manifestations of dysplastic cerebellar gangliocytoma are nonspecific and are related both to the mass effect produced by its growth and to the location of the lesion. Cerebellar symptoms such as ataxia are often present. In 40% of cases, the tumor is associated with Cowden syndrome, which is part of a group ofgenetic disorders called polypoid hamartoma complex. In this case report, the patient presented expansive lesion in the posterior fossa, compatible with LDD, associated with macrocephaly. These findings are consideredmajor criteria for Cowden syndrome. When together, they confirm the diagnoses. To our knowledge, this is the first report of the association of LDD and Cowden syndrome in Brazil.

Risk factors for the prognosis of pediatric medulloblastoma: a retrospective analysis of 40 cases

OBJECTIVES: In this study, we evaluated the association of molecular subtypes, clinical characteristics and pathological types with the prognosis of patients with medulloblastoma. METHODS: We analyzed forty patients with medulloblastoma who underwent surgical resection at our center between January 2004 and June 2014. Risk factors associated with survival, disease progression and recurrence were analyzed with a univariate Cox regression analysis, and the identified significant risk factors were further analyzed by Kaplan-Meier survival curves. RESULTS: Factors associated with overall survival included M stage (p=0.014), calcification (p=0.012), postoperative treatment, postoperative Karnofsky Performance Scale (KPS) score (p=0.015), and molecular subtype (p=0.005 for WNT and p=0.008 for SHH). Number of symptoms (p=0.029), M stage (p<0.001), and postoperative radiotherapy (p=0.033) were associated with disease progression. Patients with the WNT or SHH subtype had better survival outcomes than patients with non-WNT/SHH subtypes. Risk factors for disease progression-free survival were symptoms >2 and ≥M1 stage without postoperative radiotherapy. The risk of recurrence increased with advanced M stage. Protective factors for recurrence included M0 stage and a combination of chemotherapy and radiotherapy. CONCLUSION: We identified the risk factors associated with survival, disease progression and recurrence of medulloblastoma patients. This information is helpful for understanding the prognostic factors related to medulloblastoma.

Extra-Axial Cerebello-Pontine Angle Medulloblastoma

Medulloblastoma is the most common central nervous system tumor in children. Extraaxial medulloblastomas, especially tumors with no connection to the brain stem or cerebellum are extremely rare. We report a case of a 3-year-old patient, who presented with a history of subacute headache and vomiting. After performing a head computed tomography scan, a mass was detected in the left cerebello-pontine angle, along with concomitant hydrocephalus. The treatment was total resection of the tumor. Despite the fact that extra-axial medulloblastomas are extremely rare, this differential diagnosis should be included in the management of pediatric patients who present with posterior fossa tumors.

Meduloblastoma é o tumor do sistema nervoso central mais comum em crianças. Meduloblastomas extra-axiais, especialmente tumores sem conexão com o tronco encefálico ou cerebelo, são extremamente raros. Relatamos o caso de uma paciente de 3 anos de idade, que apresentou um histórico de cefaleia subaguda e vômitos. Por meio de um exame de tomografia computadorizada, foi identificada uma massa no ângulo ponto-cerebelar esquerdo, acompanhada de hidrocefalia. O tratamento foi resseção total do tumor. Apesar de meduloblastomas extra-axiais serem extremamente raros, este diagnóstico diferencial deve ser incluído no manejo de pacientes pediátricos que apresentem tumores da fossa posterior.

Linfoma primario del sistema nervioso central: el aporte de las técnicas convencionales de diagnóstico por imágenes / Primary CNS lymphoma: The contribution of conventional diagnostic imaging techniques

El linfoma primario del sistema nervioso central (LPSNC) tiene una presentación predecible en las imágenes convencionales, tanto en pacientes inmunocompetentes como inmunodeprimidos. Analizamos las características imagenológicas que nos permiten reconocer ambos casos y realizamos una revisión de las formas clínicas más relevantes del LPSNC, así como su aspecto en las imágenes obtenidas con técnicas convencionales del Diagnóstico por Imágenes, basándonos en un análisis retrospectivo de nuestros archivos institucionales y la literatura actual. La revisión abarca todas las presentaciones relevantes de esta enfermedad poco frecuente para permitir un diagnóstico temprano, crucial para el adecuado tratamiento.

Primary central nervous system lymphoma (PCNSL) has a predictable imaging appearance on conventional imaging in immunocompetent and immunocompromised patients. The imaging features that enable both types of patients are discussed. The extensive imaging review presented here of the most relevant PCNSL clinical presentations and their imaging appearances using conventional imaging techniques is based on a retrospective analysis of our institutional files and on the current literature. The review covers all of the relevant appearances of this uncommon disease to enable early diagnosis, which is crucial for proper patient management.

Hemangioblastoma cerebeloso y trombocitopenia: reporte de caso / Cerebellar hemangioblastoma and thrombocytopenia: report of one case

The association between vascular tumors and thrombocytopenia is rare. Kasabach-Merritt Syndrome is seen in childhood and is characterized by hemangiomas and thrombocytopenia. A 42 years-old man with a cerebellar hemangioblastoma and thrombocytopenia, admitted with a subarachnoid hemorrhage is reported. The patient was operated and required a splenectomy to manage the thrombocytopenia. After the splenectomy the patient developed a subdural hematoma that was operated. Despite the surgical treatment, the patient died.

Meduloblastoma: aspectos histológicos, moleculares e imunopatológicos / Medulloblastoma: histological, molecular and immunopathological aspects

O meduloblastoma é um tumor cerebelar caracterizado como tumor neuroectodérmico primitivo prevalente em crianças, sendo as do sexo masculinos as mais afetadas. Com relação à classificação histológica,existem cinco variações: clássico, desmoplásico, anaplásico, células gigantes e de extensa nodularidade. Muitos estudos relatam que a patogênese do meduloblastoma está relacionada com mutações em fatores de crescimento do SNC, sendo que as principais vias envolvidas são: Sonic Hedgehog, NOTCH, WNT eOTX. Ainda, com respeito à imunologia, pacientes com meduloblastoma apresentaram alta taxa de IFN-γno soro e células TH17 no sangue periférico, e foi observado que o TGF-β tem sido associado à estimulação mitogênica, o que pode estar relacionado à patogênese da doença. A predominância de uma resposta TH1 relacionada à sobrevivência também foi relatada. O desenvolvimento terapêutico para o meduloblastoma,apesar de limitado, é significativo, uma vez que este vem apresentando melhora na sobrevida de seus pacientes. Entretanto, um maior conhecimento dos mecanismos envolvidos na imunopatogênese é necessário para o desenvolvimento de novos fármacos e formas de tratamento.

Medulloblastoma is a cerebellar tumor classified as primitive neuroectodermal tumor and is prevalent in children, especially male. With regard to histological classification, there are five variations: classical, desmoplastic, anaplastic, large-cell variant and with extensive nodularity. Several studies have reported that medulloblastoma pathogenesis is related to mutations in CNS growth factors, and the main pathways involved are Sonic Hedgehog, NOTCH, WNT, and OTX. Also regarding the immunology, patients with medulloblastoma have a high serum concentration of INF-γ and TH17 cells in peripheral blood, and it was observed that TGF-β has been associated with mitogenic stimulation, and possibly associated to the pathogenesis of this disease. The prevalence of a TH1 response related to the survival was also described. The development of therapies for medulloblastoma treatment, though limited, is significant, as they resultin an improvement in the patient’s survival. However, a better understanding of the mechanism involvedin its immunopathogenesis is still necessary for the development of new drugs and ways of treatment.

Play as a care strategy for children with cancer / Lo lúdico como estrategia en cuidado de niños con cáncer / O lúdico como estratégia no cuidado à criança com câncer

OBJECTIVE: To understand the influence of play in the care process as perceived by children with cancer. METHOD: A descriptive, exploratory and qualitative study conducted in a children's cancer unit in Natal, Rio Grande do Norte, Brazil. Data were collected between October 2013 and January 2014 by means of photographic records and semi-structured interviews with eight children, and content analysis with emphasis on two categories: Auxiliary instruments during play; and The influence of play in the process of care. RESULTS: Recreational activities involve watching television, using computers, games and toys, drawing, the playroom and the clown, which provide fun, feelings of joy, distraction and interaction with other people. CONCLUSION: There are several activities at the hospital that are considered play-related and, for the children, they all benefit their care process. .

OBJETIVO: Comprender la influencia de lo lúdico en el proceso de atención, en la percepción de los niños con cáncer. MÉTODO: Estudio cualitativo, exploratorio descriptivo, realizado en un sector de oncología pediátrica en Natal, Rio Grande do Norte, Brasil. Los datos fueron recogidos entre los meses de octubre de 2013 y enero de 2014, a través de los registros fotográficos y entrevistas semiestructuradas con ocho hijos, y analizados según el análisis de contenido, destacando dos categorías de discusión: Los instrumentos auxiliares en la alegría; La influencia de lo lúdico en el proceso de atención. RESULTADOS: Las actividades recreativas implican ver televisión, usar computadoras, juegos y juguetes, la realización de dibujos y el payaso, que proporcionan diversión, sentimientos de alegría, distracción y la interacción con los demás. CONCLUSIÓN: Hay varias actividades, en el hospital, entendido como lúdico y que, para el niño, todos proporcionan beneficios para su proceso de atención. .

OBJETIVOS: Compreender a influência do lúdico para o processo de cuidar, na percepção de crianças com câncer. MÉTODO: Estudo qualitativo, exploratório descritivo, realizado em um setor de oncopediatria em Natal, Rio Grande do Norte, Brasil. Os dados foram coletados entre os meses de outubro de 2013 e janeiro de 2014, por meio de registros fotográficos e entrevista semiestruturada, com oito crianças, e analisados conforme a Análise de Conteúdo, destacando-se duas categorias de discussão: Os instrumentos auxiliares na ludicidade; e A influência do lúdico no processo de cuidar. RESULTADOS: As atividades lúdicas envolvem o assistir à televisão, o uso de computadores, os jogos e os brinquedos, a realização de desenhos, a brinquedoteca e o palhaço, os quais proporcionam diversão, sentimentos de alegria, distração e interação com outras pessoas. CONCLUSÃO: Existem diversas atividades, no hospital, entendidas como lúdicas, todas as quais, para a criança, proporcionam benefícios para o seu processo de cuidar. .

Mortalidad por tumores cerebrales malignos durante los primeros 30 días de la cirugía / Mortality from malignant brain tumors within the first 30 days after surgery

Introducción: las complicaciones neurológicas en la cirugía de los gliomas de alto grado están relacionadas con problemas en localización y exposición, extensión de la resección y la manera en que se manipulan los tejidos. Hay factores secundarios que contribuyen a la evolución desfavorable y la muerte precoz de un paciente. Objetivos: establecer la relación que existe entre la mortalidad en los primeros 30 días y diferentes factores de riesgo e identificar causas de muerte. Métodos: fueron operados 131 pacientes en el Servicio de nNeurocirugía del Hospital Calixto García desde enero de 2005 a enero de 2010, con el diagnóstico de gliomas de alto grado. De ellos, 14 fallecieron en los primeros 30 días. Variables principales utilizadas: edad, localización tumoral, grado de resección quirúrgica y causas de la muerte. Se aplicó la prueba chi cuadrado de independencia con un nivel de significación de 0,05 para evaluar relación entre variables. Resultados: la mortalidad perioperatoria fue del 10,7 por ciento. El riesgo fue mayor en el sexo masculino; discretamente mayor en los mayores de 60 años. No estuvo relacionado con la localización del tumor. Operar con signos de enclavamiento cerebral, incrementó al máximo la probabilidad de fallecer en el primer mes. La resección parcial en relación con la total y con la biopsia mostró mayor probabilidad de mortalidad. No hubo muerte transoperatoria. Conclusiones: los factores que influyeron principalmente en la evolución desfavorable fueron: la baja puntuación en la escala de Karnofskyy una resección limitada, igual o menor que 50 por ciento en una craneotomía(AU)

Introduction: The neurological complications found in the high gradegliomas surgery are primarily related with location, exposure and extension of the resection and with the way of handling tissues. There are secondary factors that contribute to the unfavorable progression and even the early death of patients that suffers this disease. Objectives: To set the relationship between mortality within the first 30 days after surgery and the different risk factors, and to identify the causes of death. Methods: One hundred and thirty one patients diagnosed with high gradegliomas were operated on in the neurosurgery service of Calixto García hospital from January 2005 through January 2010. Fourteen of them died within the first thirty days. The study variables were age, tumor location, degree of surgical resection and causes of death. Chi-square test of independence with significance level of 0.05 was applied to evaluate the association among the variables. Results: The perioperative mortality rate was 10.7 percent. The risk of death was higher in males; slightly higher in those over 60 years and unrelated to the tumor location. If patients are operated on with signs of brain herniation, they are more likely to die in the first month. Partial compared to total resection and to biopsy showed higher mortality probabilities. There was no intraoperative death. Conclusions: The low scoring in the Karnofsky Scale, and a partial resection equal or smaller than 50 percent in a craniotomy were the influential factors in an unfavorable outcome of disease(AU)

Enfermedad de Lhermitte-Duclos o gangliocitoma displásico cerebeloso: reporte de un caso y revisión de la literatura / Lhermitte-Duclos disease or cerebellar dysplastic gangliocytoma: Case report and literature review

La enfermedad de Lhermitte-Duclos o gangliocitoma displásico cerebeloso es una entidad infrecuente que se presenta como un proceso expansivo de la fosa posterior, de lento crecimiento y patogenia desconocida. Puede estar asociada a otras anomalías congénitas. Presentamos el caso de un gangliocitoma displásico de cerebelo en un paciente de sexo masculino, de 77 años de edad, con antecedentes de adenocarcinoma prostático, que fue estudiado por tomografía computada (TC) y resonancia magnética (RM). Los hallazgos característicos, junto con una evaluación neuroquirúrgica y un manejo apropiados, permitieron efectuar el diagnóstico preoperatorio sin necesidad de recurrir a exámenes histopatológicos...

The Lhermitte-Duclos disease or dysplastic cerebellar gangliocytoma is an uncommon disorder that presents as an expansive, slow growing process of the posterior fossa, of unknown pathogenesis, that may be associated with other congenital anomalies.A case is presented of a dysplastic cerebellar gangliocytoma in a 77 year-old male patient, with a history of prostatic adenocarcinoma. A study was made using Computed Tomography (CT) and Magnetic Resonance (MRI), where the characteristic findings enabled a preoperative diagnosis to be made without need for histopathological examination, in addition to a neurosurgical evaluation and appropriate management...

CTNNB1, AXIN1 and APC expression analysis of different medulloblastoma variants

OBJECTIVES: We investigated four components of the Wnt signaling pathway in medulloblastomas. Medulloblastoma is the most common type of malignant pediatric brain tumor, and the Wnt signaling pathway has been shown to be activated in this type of tumor. METHODS: Sixty-one medulloblastoma cases were analyzed for β-catenin gene (CTNNB1) mutations, β-catenin protein expression via immunostaining and Wnt signaling pathway-related gene expression. All data were correlated with histological subtypes and patient clinical information. RESULTS: CTNNB1 sequencing analysis revealed that 11 out of 61 medulloblastomas harbored missense mutations in residues 32, 33, 34 and 37, which are located in exon 3. These mutations alter the glycogen synthase kinase-3β phosphorylation sites, which participate in β-catenin degradation. No significant differences were observed between mutation status and histological medulloblastoma type, patient age and overall or progression-free survival times. Nuclear β-catenin accumulation, which was observed in 27.9% of the cases, was not associated with the histological type, CTNNB1 mutation status or tumor cell dissemination. The relative expression levels of genes that code for proteins involved in the Wnt signaling pathway (CTNNB1, APC, AXIN1 and WNT1) were also analyzed, but no significant correlations were found. In addition, large-cell variant medulloblastomas presented lower relative CTNNB1 expression as compared to the other tumor variants. CONCLUSIONS: A small subset of medulloblastomas carry CTNNB1 mutations with consequent nuclear accumulation of β-catenin. The Wnt signaling pathway plays a role in classic, desmoplastic and extensive nodularity medulloblastoma variants but not in large-cell medulloblastomas.