Actualización sobre los tumores de la región pineal / Update on pineal region tumors

Introducción: Los tumores de la región pineal constituyen un grupo heterogéneo de lesiones agrupadas más por su localización común que por su relación histológica. Pueden clasificarse en tumores de células germinales, del parénquima pineal, embrional y de estructuras adyacentes. Objetivo: Caracterizar la fisiopatología de los tumores de la región pineal y algunos aspectos de su tratamiento. Métodos: Se realizó una revisión bibliográfica, se seleccionaron estudios relacionados con la fisiopatología de los tumores de la región pineal y su manejo. Las fuentes de información consultada fueron Google Scholar, PubMed, SciElo y Dialnet; se utilizaron los descriptores: neoplasias pineales, pinealoma, neoplasias encefálicas. Se seleccionaron 23 artículos, más del 75 por ciento son de los últimos 5 años. Desarrollo: La tasa y la velocidad de crecimiento de estas neoplasias determinan la rapidez con la que se instauran los diversos síntomas, de ahí que la presentación más común es la hidrocefalia triventricular, acompañada de dolor de cabeza, náuseas, vómitos, disminución de la actividad, somnolencia o letargo y alteraciones visuales. También se pueden observar paresias y síndromes endocrinos. El diagnóstico se basa en la exploración de marcadores tumorales en suero, líquido cefalorraquídeo, tomografía y resonancia magnética. Finalmente, la quimioterapia y la intervención quirúrgica constituyen las principales alternativas terapéuticas tras el diagnóstico de la enfermedad. Conclusiones: Este tipo de neoplasia es poco frecuente, sus manifestaciones clínicas dependen de la localización, tamaño y tipo de tumor; además, el tratamiento suele ser quirúrgico y posterior a la quimioterapia, si las características de la neoplasia lo permiten(AU)

Introduction: Tumors of the pineal region constitute a heterogeneous group of lesions better grouped by their common location than by their histological relationship. They can be classified into tumors of germ cells, pineal parenchyma, embryonal and adjacent structures. Objective: To characterize the pathophysiology of pineal region tumors and some aspects of their treatment. Methods: A literature review was carried out, we selected studies related to the pathophysiology of pineal region tumors and their management. The information sources consulted were Google Scholar, PubMed, SciELO and Dialnet; the descriptors were used pineal neoplasms, pinealoma, brain neoplasms. Twenty three articles were selected, more than 75percent are from the last 5 years. Results: The rate and speed of growth of these neoplasms determine the speed with which the various symptoms are established, hence the most common presentation is triventricular hydrocephalus, accompanied by headache, nausea, vomiting, decreased activity, drowsiness or lethargy and visual disturbances. Paresis and endocrine syndromes may also be seen. The diagnosis is based on the examination of tumor markers in serum, cerebrospinal fluid, tomography and magnetic resonance imaging. Finally, chemotherapy and surgery are the main therapeutic alternatives after diagnosis of the disease. Conclusions: This type of neoplasm is rare, the clinical manifestations depend on the location, size and type of tumor; in addition, the treatment is usually surgical and then chemotherapy, if the characteristics of the neoplasm allow so(AU)

Plasmocitoma extramedular solitario rinosinusal: reporte de caso y revisión de literatura / Solitary extramedullary plasmacytoma of the rhinosinusal cavity: a case report and literature review

Resumen El plasmocitoma extramedular solitario (PES) es una neooplasia maligna infrecuente caracterizada por una proliferación aislada de células plasmáticas monoclonales en tejido extramedular. La localización más frecuente es en cabeza y cuello con predominio en el territorio rinosinusal, sin embargo, estas lesiones malignas representan menos del 1% de los tumores de esta región anatómica. El diagnostico requiere una alta sospecha clínica, análisis histopatológico acucioso, estudios serológicos y exámenes radiológicos sistémicos de acuerdo a los criterios diagnósticos establecidos en la literatura internacional. Se analiza el caso de un paciente masculino con un PES que se presentó como un tumor de fosa nasal derecha y obstrucción nasal de meses de evolución con hallazgos clínicos e imagenológicos inespecíficos. El diagnóstico definitivo se realizó mediante biopsia endoscópica nasal y estudio histopatológico. El tratamiento fue abordado de manera multidisciplinaria entre otorrinolaringología, hematología y radiooncología. De acuerdo a las guías internacionales, se decidió realizar radioterapia localizada con buen resultado clínico precoz. El PES requiere un abordaje multidisciplinario para lograr un diagnóstico y tratamiento oportuno, siendo imprescindible la exclusión del mieloma múltiple debido a las diferencias terapéuticas y en pronóstico clínico. El tratamiento puede realizarse con radioterapia y/o cirugía, siendo la radioterapia el pilar de tratamiento.

Abstract Solitary extramedullary plasmacytoma (SEP) is a rare malignant neoplasm characterized by isolated proliferation of monoclonal plasma cells in extramedullary tissue. The most frequent location is in the head and neck with a predominance in the rhinosinusal territory; however, these malignant lesions represent less than 1% of the tumors in this anatomical region. The diagnosis requires a high clinical suspicion, careful histopathological analysis, serological studies and systemic radiological examinations according to the diagnostic criteria established in the international literature. We analyze the case of a male patient with SEP that presented as a tumor of the right nostril and nasal obstruction of months of evolution with nonspecific clinical and imaging findings. The definitive diagnosis was made by nasal endoscopic biopsy and histopathological study. The treatment was approached by multidisciplinary teamwork. According to international guidelines, it was decided to perform localized radiotherapy with good early clinical results. SEP requires a multidisciplinary approach to achieve a timely diagnosis and treatment, being essential exclusion of multiple myeloma due to the therapeutic differences and prognosis. Treatment can be done with radiation therapy and/or surgery; radiation therapy is the mainstay of treatment.

Consenso chileno para el diagnóstico y tratamiento de gliomas del adulto / Diagnosis and treatment of glioma in adult: Chilean consensus

Resumen Los tumores cerebrales se caracterizan por su gran morbilidad y mortalidad. La gran mayoría corresponde a tumores secundarios (metástasis). Dentro de los tumores primarios del sistema nervioso central, los gliomas corresponden al 30% de éstos. En EEUU, entre el 2007-2011, se estima una incidencia aproximada de 21,4 casos por 100.000 habitantes. Los recientes avances en la comprensión molecular de la biología de estos tumores han permitido mejorar sustancialmente su clasificación, posibilitando realizar un mejor correlato con los desenlaces clínicos y el pronóstico. En esta línea, hoy en día es posible estratificar a los pacientes por riesgo y entregar tratamientos capaces de prolongar la sobrevida global entre 5-7 años, para los gliomas grado II y III. El presente consenso, elaborado por un panel multidisciplinario de expertos de diversas sociedades científicas chilenas y, por tanto, de todas las especialidades involucradas en el manejo médico-quirúrgico de las personas portadoras de gliomas cerebrales. A la luz de este nuevo conocimiento desarrollado al alero de la oncología molecular, esta propuesta ofrece un insumo de utilidad clínica real, que, articulado a una revisión actualizada en relación con el tratamiento y seguimiento de estos pacientes, permite entender la relevancia de estos biomarcadores en el manejo de precisión de la enfermedad. Cabe señalar que, este manuscrito emerge de la misma fuerza de trabajo, que elaboró el Protocolo Clínico de Gliomas del Adulto 2019, publicado por el Ministerio de Salud, y que ha diferencia de esta, que ofrece los detalles clínicos-operativos, como flujogramas y dosis, nuestra revisión intenta relevar los avances imagenológicos y moleculares y como estos impactan en el manejo actual de la enfermedad.

Brain tumors are characterized by high morbidity and mortality. The vast majority correspond to secondary tumors (metastasis). On the other hand, within the primary tumors of the central nervous system, gliomas correspond to 30% of these. In the US, between 2007-2011, an approximate incidence of 21.4 cases per 100,000 inhabitants was estimated. Recent advances in the molecular understanding of the biology of these tumors have made it possible to substantially improve their classification, allowing a better correlation with clinical outcomes and prognosis. Along these lines, today, it is possible to stratify patients by risk and deliver treatments capable of prolonging global survival between 5-7 years, for grade II and III gliomas. The present consensus, prepared by a multidisciplinary panel of experts from various Chilean scientific societies and, therefore, from all the specialties involved in the medical and surgical therapy. Enlightened from the molecular oncology, this proposal offers an input of clinical utility, which, together with an updated review in relation to the treatment and follow-up of these patients, allows us to understand the relevance of these biomarkers in precision disease management. It should be noted that this manuscript emerges from the same work force, which prepared the Clinical Protocol for Adult Gliomas 2019, published by the Ministry of Health, and that differs from it, which offers clinical-operative details, such as flowcharts and dose, our review attempts to reveal imaging and molecular advances and how they impact the current management of the disease.

Retrospective Analysis of Pathological Diagnosis of Central Nervous System Diseases in Tibet / 中国医学科学院学报

Objective To analyze the disease spectrum and clinicopathological characteristics of central nervous system(CNS)diseases diagnosed based on pathological findings in Tibet. Methods We collected the data of all the cases with CNS lesions in Tibet Autonomous Region People's Hospital from January 2013 to December 2020.The clinicopathological features were analyzed via light microscopy,immunohistochemical staining,and special staining. Results A total of 383 CNS cases confirmed by pathological diagnosis were enrolled in this study,with a male-to-female ratio of 188∶195 and an average age of(40.03±17.39)years(0-74 years).Among them,127(33.2%)cases had non-neoplastic diseases,with a male-to-female ratio of 82∶45 and an average age of(31.99±19.29)years;256(66.8%)cases had neoplastic diseases,with a male-to-female ratio of 106∶150 and an average age of(44.01±14.87)years.The main non-neoplastic diseases were nervous system infectious diseases,cerebral vascular diseases,meningocele,cerebral cyst,and brain trauma.Among the infectious diseases,brain abscess,granulomatous inflammation,cysticercosis,and hydatidosis were common.The main neoplastic diseases included meningioma,pituitary adenoma,neuroepithelial tumor,schwannoma,metastatic tumor,and hemangioblastoma.The meningioma cases consisted of 95.4%(103/108)cases of grade Ⅰ,3.7%(4/108)cases of grade Ⅱ,and only 1(1/108,0.9%)case of grade Ⅲ.Among the neuroepithelial tumor cases,the top three were glioblastoma,grade Ⅲ diffuse glioma,and ependymoma. Conclusions There are diverse CNS diseases confirmed by pathological diagnosis in Tibet,among which non-neoplastic diseases account for 1/3 of all the cases.Infectious and vascular diseases are the most common non-neoplastic diseases in Tibet,and tuberculosis and parasitic infections are relatively common.The types and proportion of brain tumors in Tibet are different from those in other regions of China,and meningioma is the most common in Tibet,with higher proportion than neuroepithelial tumor.

Caracterización clínica, epidemiológica y anatomopatológica de los tumores cerebrales supratentoriales y su morbilidad posanestésica / Clinical, Epidemiological and Anatomopathological Characterization of Supratentorial Brain Tumor and its Post-Anesthetic Morbidity

Introducción: Los tumores cerebrales no son frecuentes, pero tienen efectos devastadores. Objetivo: Caracterizar según criterios clínicos y anatomopatológicos a los pacientes con tumor cerebral supratentorial. Métodos: Se realizó un estudio observacional y descriptivo de casos clínicos en el período de enero 2017 - enero 2019, en el Hospital Provincial Saturnino Lora de Santiago de Cuba. El universo estuvo constituido por la totalidad de los 117 pacientes a los que se les realizó una tomografía computarizada de cráneo y con diagnóstico histológico postoperatorio de neoplasia primaria del sistema nervioso central (supratentorial) y metástasis cerebral, a los que se les realizó neurocirugía transcraneal. Resultados: Predominó el sexo masculino y las edades entre 40 a 59 años, clínicamente la mayoría de los casos presentó cefalea como signo de hipertensión endocraneana 76,1 por ciento. El 87,2 por ciento presentó la tumoración en los hemisferios cerebrales. El glioblastoma multiforme fue el tipo histológico prevaleciente con 45,3 por ciento. La hipopotasemia fue la complicación post anestésica más frecuente (21,4 por ciento). Conclusiones: Los tumores cerebrales supratentoriales en la edad adulta constituyen un problema de salud, principalmente en los hombres después de los 45 años de edad; la cefalea, las convulsiones y los vómitos son los síntomas cardinales. Durante la excéresis de los tumores supratentoriales los pacientes presentaron diversas complicaciones anestésicas(AU)

Introduction: Brain tumors are not frequent, but they have devastating effects. Objective: To characterize patients with supratentorial brain tumor, according to clinical and pathological criteria. Methods: An observational and descriptive study of clinical cases was carried out, in the period from January 2017 to January 2019, at Saturnino Lora Provincial Hospital in Santiago de Cuba. The universe consisted of the 117 patients who underwent computed tomography of the skull and with a postoperative histological diagnosis of primary neoplasia of the central nervous system (supratentorial) and brain metastases, who underwent transcranial neurosurgery. Results: The male sex predominated, together with the ages 40-59 years old. Clinically, most of the cases (76.1 percent) presented headache as a sign of intracranial hypertension. 87.2 percent presented the tumor in the cerebral hemispheres. Glioblastoma multiforme was the prevalent histological type, accounting for 45.3 percent. Hypokalemia was the most frequent post-anesthetic complication, accounting for 21.4 percent. Conclusions: Supratentorial brain tumors in adulthood constitute a health concern, mainly in men after 45 years of age; headache, seizures and vomiting are the cardinal symptoms. During excision of supratentorial tumors, the patients presented various anesthetic complications(AU)

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

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

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

Homeobox B2 is a potential prognostic biomarker of glioblastoma

SUMMARY OBJECTIVES HOXB2 is a new prognostic indicator for lung cancer. But it is unclear whether HOXB2 holds an effect in glioblastoma (GBM) progression. The purpose of this article was to probe the influences of HOXB2 on GBM pathogenesis. METHODS HOXB2 expression level and prognostic power in GBM patients were analyzed. Then the mRNA and protein expression levels of HOXB2 in GBM cell lines were tested by qRT-PCR and western blotting. Cell proliferation, invasion, and migration were determined by CCK8 and transwell assay, severally. The protein levels of PI3K/AKT-pathway associated proteins were analyzed by western blotting. RESULTS The results indicated that HOXB2 was distinctly overexpressed in GBM patients and high expression of HOXB2 was related to a poor prognosis. Moreover, the expression of HOXB2 was higher in all GBM cell lines U251, U-87MG, GOS-3 than that in HEB cells (normal control). Meanwhile, decreased expression of p-PI3K and p-AKT were identified after HOXB2 knockdown. CONCLUSIONS These data demonstrated that HOXB2 had a vital role in GBM progression and could serve as a promising target for GBM treatment.

RESUMO OBJETIVOS A HOXB2 é um novo indicador prognóstico para o câncer de pulmão. Mas não está claro se a HOXB2 tem algum efeito na progressão do glioblastoma (GBM). O objetivo deste artigo foi sondar as influências da HOXB2 na patogênese do GBM. MÉTODOS Foram analisados o nível de expressão e o poder prognóstico da HOXB2 em pacientes com GBM. Em seguida, os níveis de expressão proteica e mRNA da HOXB2 em linhagens de células de GBM foram testados por qRT-PCR e western blotting. A proliferação, a invasão e migração celular foram determinadas por CCK8 e ensaios transwell, várias vezes. Os níveis proteicos das proteínas associadas à via PI3K/AKT foram analisados pelo método western blotting. RESULTADOS Os resultados indicaram que havia uma clara superrexpressão da HOXB2 em pacientes com GBM e que a alta expressão da HOXB2 estava relacionada a um prognóstico negativo. Além disso, a expressão da HOXB2 foi mais elevada em todas as linhagens de células do GBM U251, U-87MG, GOS-3 do que nas células HEB (controle normal). Entretanto, a diminuição da expressão de P-PI3K e p-AKT foi identificada após a redução da expressão da HOXB2. CONCLUSÕES Esses dados demonstram que a HOXB2 desempenha um papel vital na progressão do GBM, podendo ser um alvo promissor para o tratamento do GBM.

Epidemiological Profile of Malignant Brain Neoplasms in the Northern Region of Brazil: data from the Cancer Hospital Registry of the Instituto Nacional de Câncer

Objective Tumors of the central nervous system (CNS) are considered rare, with an incidence of 3.4 cases per 100,000 individuals worldwide. Although uncommon, CNS tumors have been gaining epidemiological importance due to their increased incidence and mortality. In Brazil, there is a lack of population research regarding CNS cancer, especially in the Northern region. Thus, the authors aim to trace an epidemiological profile of malignant brain neoplasms in the Northern region from 2001 to 2013. Methods Data were collected from the Cancer Hospital Registry of the Instituto Nacional de Câncer (RHC-INCA, in the Portuguese acronym) and stratified according to origin, gender, age, detailed primary location, and histological type. A total of 742 cases were analyzed. Most of the cases came from inland areas, with a male predominance. Results The most affected age groups were between 0 and 9 years old and between 30 and 49 years old, with an accentuated decrease in incidence starting at the age of 70 years old. The frontal lobe was themost affected area, followed by the temporal and parietal lobes. Astrocytic tumors accounted for 64.3% of cases, followed by embryonal tumors (18.2%), and ependymal tumors (7.4%). Among the astrocytic tumors, astrocytoma, not otherwise specified (NOS), and glioblastoma, NOS corresponded to 82.2% of the cases. Among embryonal tumors, medulloblastoma accounted for 71.9% of the cases. Conclusion More epidemiological studies in this area, especially in the Northern region, are required to identify risk factors and allow prevention and early diagnosis.

Brain metastasis in papillary serous adenocarcinoma of the endometrium / Metástase cerebral do adenocarcinoma seroso-papilífero do endométrio

Abstract Background Most endometrial cancers (75%) are diagnosed in early stages (stages I and II), in which abnormal uterine bleeding is the most frequent clinical sign.When the diagnosis is performed in stage IV, the most common sites of metastasis are the lungs, liver and bones. Central nervous system (CNS)metastasis is a rare condition. The aim of this study is to describe a case of uterine papillary serous adenocarcinoma of the endometrium that progressed to brain and bone metastases. Case Report We present the case of a 56-year-old woman with abnormal uterine bleeding and endometrial thickened echo (1.8 cm). A hysteroscopy with biopsy was performed, which identified poor differentiated serous adenocarcinoma of the endometrium. A total abdominal hysterectomy, with pelvic and para-aortic lymphadenectomy, was performed. Analysis of the surgical specimen revealed a grade III uterine papillary serous adenocarcinoma. Adjuvant radio/chemotherapy (carboplatin and paclitaxel-six cycles) was indicated. Sixteen months after the surgery, the patient began to complain of headaches. Brain magnetic resonance imaging demonstrated an expansile mass in the right parietal lobe, suggesting a secondary hematogenous implant subsequently confirmed by biopsy. She underwent surgery for treatment of brain metastasis, followed by radiotherapy. She died 12 months after the brain metastasis diagnosis due to disease progression. Conclusion Uterine papillary serous adenocarcinoma of the endometrium has a low propensity to metastasize to the brain. To the best of our knowledge, this is the fifth documented case of uterine papillary serous adenocarcinoma of the endometrium with metastasis to the CNS.

Resumo Fundamentos A maioria dos cânceres de endométrio (75%) é diagnosticada em estágios iniciais (estágios I e II), nos quais o sangramento uterino anormal é o sinalclínico mais frequente. Quando o diagnóstico é realizado no estágio IV, os locais mais comuns de metástase são os pulmões, o fígado e os ossos. A metástase para o sistema nervoso central (SNC) é uma condição rara. O objetivo deste estudo é descrever um caso de adenocarcinoma seroso-papilífero do endométrio que progrediu para metástases cerebral e óssea. Relato de Caso Apresentamos o caso de uma mulher de 56 anos com sangramento uterino anormal e eco endometrial espessado (1,8 cm). Foi realizada histeroscopia com biópsia que identificou adenocarcinoma seroso-papilífero pouco diferenciado do endométrio. Uma histerectomia abdominal total, com linfadenectomia pélvica e para-aórtica, foi realizada. A análise da peça cirúrgica revelou adenocarcinoma seroso-papilífero do endométrio grau III. Radioterapia adjuvante/quimioterapia (carboplatina e paclitaxel- seis ciclos) foi indicada.Dezesseismeses após a cirurgia, a paciente começou a se queixar de dores de cabeça. A ressonância magnética cerebral demonstrou uma massa expansiva no lobo parietal direito, sugerindo um implante hematogênico secundário posteriormente confirmado por biópsia. A paciente foi submetida a cirurgia para tratamento de metástase cerebral, seguida de radioterapia. A paciente morreu 12 meses após o diagnóstico de metástase cerebral devido à progressão da doença. Conclusão O adenocarcinoma seroso-papilífero do endométrio tem uma baixa propensão a metastizar para o cérebro. Até onde sabemos, este é o quinto caso documentado de adenocacinoma seroso-papilífero do endométrio com metástase para o SNC.

Diagnóstico oportuno de paracoccidioidomicosis diseminada en un adulto inmunocompetente / Timely diagnosis of disseminated paracoccidioidomycosis in an immunocompetent adult

La paracoccidioidomicosis es endémica en bosques húmedos subtropicales de América Latina. En sus formas agudas/subagudas se disemina agresivamente por el sistema linfoganglionar, pero en sus formas crónicas (más frecuentes) se presenta como diagnóstico diferencial de otras enfermedades que comprometen pulmón, orofaringe, piel y eventualmente cerebro. Presentamos el caso de un hombre con diagnóstico presuntivo de cáncer de pulmón con metástasis cerebrales. El hallazgo de levaduras multibrotadas y el posterior desarrollo de un hongo dimorfo identificado como Paracoccidioides sp. a partir de la biopsia de cerebro resultó en un cambio cardinal en el pronóstico y la terapéutica. Este caso resalta la importancia de considerar las micosis sistémicas en el diagnóstico diferencial de cuadros clínicos compatibles en personas que hayan habitado o transitado áreas endémicas.

Paracoccidioidomycosis is endemic in subtropical rainforests of Latin America. Acute/subacute presentations involve an aggressive dissemination throughout the lymphatic system, while chronic forms (more frequent) arise as differential diagnosis for other conditions involving lung, oropharynx, skin, and eventually the brain. We present the case of a man referred for evaluation and treatment of a possible lung tumor with brain metastasis. The finding of multibudded yeasts and the microbiological isolation of a dimorphic fungus identified as Paracoccidioides sp. from a brain biopsy prompted a cardinal change in prognosis and treatment. This case alerts on the importance of considering systemic fungal diseases as differential diagnosis of compatible clinical presentations in patients who had lived in, or visited, endemic areas.

Actualización del manejo de metástasis encefálicas / Metastasis management update encephalic

Brain metastases represent a critical stage of oncological disease and its frequency is increasing over the recent years. The treatment of brain metastases has moved from a conservative approach to an active management that should be individualized for each patient: in case of single brain metastasis, surgery or radiosurgery should be considered as first option of treatment; in case of multiple lesions, whole-brain radiotherapy is the standard of care. The aim of this review is to present general aspects including new approaches in management of patients with brain metastases.(AU)

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)

Bob marley's disease: cerebral metastasis of acral melanoma / A doença de Bob Marley: metástases cerebrais de melanoma acral

Bob Marley's had a great importance to Jamaica, Caribbean popular music, and Pan-Africanism. Under the name of the Wailers, several Marley's success reggae albums were recorded between 1969 and 1975. After this, at the solo career, he was placed as the most important reggae singer. The disease that ruined Bob Marley was an acral melanoma (right hallux) that had a late diagnosis and treatment, followed by metastases to the abdomen, the lungs and the brain. Seizures have been the warning sign that the melanoma had spread, three years after the initial injury. We presented here the history of the disease of this famous singer and reported another patient with a case quite similar to him, calling his illness as "Bob Marley's disease".

Bob Marley representou um marco para a Jamaica, para a música popular do Caribe, e para o Pan-Africanismo. Com o nome de Wailers, vários álbuns de reggae foram gravados com sucesso entre 1969 e 1975. Em sua carreira solo, ele foi considerado o mais importante cantor de reggae. A doença que dizimou Bob Marley foi um melanoma acral (hálux direito) que teve um diagnóstico e tratamento tardios, seguido de metástases para o abdome, pulmões e encéfalo. Crises convulsivas foram o sinal de alerta, três anos após a lesão inicial, de que o melanoma estava disseminado. Nós apresentamos aqui a história da doença deste famoso cantor e relatamos um outro paciente com um caso similar ao qual denominamos "doença de Bob Marley".

Síndrome de Klippel-Feil con fistula traqueoesofagica, pulgar bifido y angiolipoma cerebral / Klippel-Feil syndrome with tracheoesophageal fistula, bifid thumb and cerebral angiolipoma

El síndrome de Klippel-Feil es una malformación congénita de la charnela cráneo-cervical compleja que involucra vértebras y visceras, caracterizada por la tríada clásica de cuello corto, limitación de movimientos de la cabeza por la fusión de vértebras cervicales e implantación baja del cabello en la región occipital. Se presenta por falla de segmentación en el esqueleto axial del embrión. Su incidencia se estima en 1/40 000-42 000nacimientos y predomina en el sexo femenino. El objetivo del presente trabajo es describir el cuadro clínico de un paciente con síndrome de Klippel-Feil y múltiples malformaciones asociadas, entre ellas, fístula traqueoesofágica, pulgar bífido y lipomas/angiolipomas intracraneales, las cuales, hasta ahora, no han sido descritas en el síndrome, por lo que se considera un hallazgo excepcional.

The Klippel-Feil syndrome is a congenital malformation of the skull flap involving complex cervical vertebrae and organs, characterized by a classic triad: short neck, limitation of movement of the head due to cervical spine fusion and low hairline in occipital region. It results from an error in the axial skeleton segmentation of the embryo; its incidence is estimated at 1/40,000-42,000 births and predominates in females. The aim of this paper is to describe the clinical picture of a patient with Klippel-Feil syndrome and multiple malformations, including tracheoesophageal fistula, bifid thumb and intracranial lipomas/angiolipomas,that have not been previously described in the syndrome, so it is considered an exceptional finding.

Presentación sincrónica de tumor epidermoides intracraneal y absceso cerebral: reporte de un caso / Synchronous presentation of intracranial epidermoid tumor and brain abscess: case report

Introducción: Un paciente con tumor epidermoides intracraneal extradural con presentación sincrónica con absceso cerebral, sin antecedentes de trauma craneal penetrante, no ha sido reportado con anterioridad en la revisión del tema realizada por los autores. Se presenta un caso con estas características y se exponen consideraciones sobre el diagnóstico y el tratamiento. Caso clínico: Paciente femenina, de 48 años de edad, con antecedentes de cefalea crónica y tumor craneal palpable en región frontal izquierda. Los estudios humorales fueron normales. La RNM craneal mostró dos imágenes en anillo yuxtapuestas, extra e intraaxial de forma respectiva. En la cirugía se encontró tumor perlado extradural sin evidencia a la inspección de tumor intradural, se comprobó en el examen histopatológico tumor epidermoides. En los controles imagenológicos posoperatorios se descubrió la persistencia de la lesión intraaxial, en anillo, frontal izquierda. Una segunda cirugía evidenció un absceso cerebral de ubicación subcortical y se efectuó la resección radical. La evolución fue favorable, sin secuelas después de cuatro meses de seguimiento. Conclusiones: Se reportó un caso infrecuente, donde se presentó de forma sincrónica un tumor epidermoides extradural frontal izquierdo y absceso cerebral frontal ipsilateral, sin relación de continuidad ni comunicación fistulosa demostrada en las neuroimágenes ni en la exploración quirúrgica.

Introduction: A patient with intracranial extradural epidermoid tumor with synchronous presentation with brain abscess and no history of penetrating head trauma, has not been previously reported in the revision of the subject made by the authors. A case with these characteristics is presented and also considerations about diagnosis and treatment. Case report: A 48-yearold female patient, with a history of chronic headache and cranial palpable tumor in left frontal region. Humoral studies were normal. Cranial MRI showed two juxtaposed, extra and intraaxial ring images. At surgery an extradural pearly tumor without evidence of intradural tumor on inspection was found, biopsy showed an epidermoid tumor. Persistence of intraaxial ring lesion in left frontal lobe was showed in postoperative imaging controls. A second surgery discovered a subcortical brain abscess and radical resection was done. Patient outcome has been without sequelae after four months of follow-up. Conclusions: An uncommon case where reported with extradural left frontal epidermoid tumor and ipsilateral frontal brain abscess synchronously presented, neither continuity nor fistulous communication were demonstrated on neuroimaging or surgical exploration.

Immunohistochemical Analysis of ATRX, IDH1 and p53 in Glioblastoma and Their Correlations with Patient Survival

Glioblastoma (GBM) can be classified into molecular subgroups, on the basis of biomarker expression. Here, we classified our cohort of 163 adult GBMs into molecular subgroups according to the expression of proteins encoded by genes of alpha thalassemia/mental retardation syndrome X-linked (ATRX), isocitrate dehydrogenase (IDH) and TP53. We focused on the survival rate of molecular subgroups, depending on each and various combination of these biomarkers. ATRX, IDH1 and p53 protein expression were evaluated immunohistochemically and Kaplan-Meier analysis were carried out in each group. A total of 15.3% of enrolled GBMs demonstrated loss of ATRX expression (ATRX-), 10.4% expressed an aberrant IDH1 R132H protein (IDH1+), and 48.4% exhibited p53 overexpression (p53+). Survival differences were statistically significant when single protein expression or different combinations of expression of these proteins were analyzed. In conclusion, in the case of single protein expression, the patients with each IDH1+, or ATRX-, or p53- GBMs showed better survival than patients with counterparts protein expressed GBMs. In the case of double protein pairs, the patients with ATRX-/p53-, ATRX-/IDH1+, and IDH1+/p53- GBMs revealed better survival than the patients with GBMs with the remained pairs. In the case of triple protein combinations, the patients with ATRX-/p53-/IDH+ showed statistically significant survival gain than the patients with remained combination of proteins-expression status. Therefore, these three biomarkers, individually and as a combination, can stratify GBMs into prognostically relevant subgroups and have strong prognostic values in adult GBMs.

Importance of Contrast-Enhanced Fluid-Attenuated Inversion Recovery Magnetic Resonance Imaging in Various Intracranial Pathologic Conditions

Intracranial lesions may show contrast enhancement through various mechanisms that are closely associated with the disease process. The preferred magnetic resonance sequence in contrast imaging is T1-weighted imaging (T1WI) at most institutions. However, lesion enhancement is occasionally inconspicuous on T1WI. Although fluid-attenuated inversion recovery (FLAIR) sequences are commonly considered as T2-weighted imaging with dark cerebrospinal fluid, they also show mild T1-weighted contrast, which is responsible for the contrast enhancement. For several years, FLAIR imaging has been successfully incorporated as a routine sequence at our institution for contrast-enhanced (CE) brain imaging in detecting various intracranial diseases. In this pictorial essay, we describe and illustrate the diagnostic importance of CE-FLAIR imaging in various intracranial pathologic conditions.

Partial epilepsy: A pictorial review of 3 TESLA magnetic resonance imaging features

Epilepsy is a disease with serious consequences for patients and society. In many cases seizures are sufficiently disabling to justify surgical evaluation. In this context, Magnetic Resonance Imaging (MRI) is one of the most valuable tools for the preoperative localization of epileptogenic foci. Because these lesions show a large variety of presentations (including subtle imaging characteristics), their analysis requires careful and systematic interpretation of MRI data. Several studies have shown that 3 Tesla (T) MRI provides a better image quality than 1.5 T MRI regarding the detection and characterization of structural lesions, indicating that high-field-strength imaging should be considered for patients with intractable epilepsy who might benefit from surgery. Likewise, advanced MRI postprocessing and quantitative analysis techniques such as thickness and volume measurements of cortical gray matter have emerged and in the near future, these techniques will routinely enable more precise evaluations of such patients. Finally, the familiarity with radiologic findings of the potential epileptogenic substrates in association with combined use of higher field strengths (3 T, 7 T, and greater) and new quantitative analytical post-processing techniques will lead to improvements regarding the clinical imaging of these patients. We present a pictorial review of the major pathologies related to partial epilepsy, highlighting the key findings of 3 T MRI.