Pineoblastoma en el adulto. A propósito de un caso

Fundamento: Los pineoblastomas son tumores cerebrales infrecuentes dentro del grupo de los tumores primitivos neuroectodérmicos. La presentación clínica por lo general está relacionada con la obstrucción del acueducto de Silvio, lo que ocasiona hidrocefalia e hipertensión intracraneal. Objetivo: Describir las características clínicas e imagenológicas de un paciente adulto con diagnóstico de pineoblastoma. Presentación de caso: Masculino, 33 años, que comenzó con disminución de la agudeza visual que evolucionó a la amaurosis bilateral y trastorno de la marcha. Se diagnosticó hidrocefalia obstructiva triventricular, por lo cual se realizó tercer ventriculostomía endoscópica. Se decidió un abordaje supracerebeloso infratentorial a la lesión tumoral, con apoyo endoscópico en posición semisentado; se logró la resección parcial. En estudio inmunohistoquímico se encontró Ki-67 mayor de 50 % de las células, neurofilamento y sinaptofisina positiva. Se concluyó como pineoblastoma. Recibió radioterapia convencional con Co-60, fraccionada, con un total de 30 dosis diarias de 2 Gy. La evolución del paciente a los 6 meses de operado fue satisfactoria. Conclusiones: El tratamiento combinado de cirugía y radioterapia constituye un esquema terapéutico ideal en este tipo de lesiones tumorales. La endoscopia es una herramienta de gran valor en los abordajes quirúrgicos a la región pineal.

Background: Pineoblastomas are infrequent brain tumors among the neuroectodermal primitive tumors. Clinical presentation is usually related to Silvian aqueduct obstruction, which causes hydrocephalus and intracranial hypertension. Objective: To describe the clinical and imagenological characteristics in an adult patient diagnosed with pineoblastoma. Case presentation: Male, 33 years old, who started with visual acuity decline that evolved to bilateral amaurosis and gait disorder. Triventricular obstructive hydrocephalus was diagnosed, therefore, an endoscopic third ventriculostomy was realized. It was decided to use an infratentorial supracerebellar approach to the tumor lesion, with endoscopic support in semi-seated position; partial resection was achieved. In immunohistochemical study, Ki-67 was found to be higher than 50% of the cells, neurofilament and synaptophysin positive. It was concluded as pineoblastoma. He received fractionated Co-60 conventional radiotherapy, with a total of 30 daily doses, 2 Gy. The evolution of the patient 6 months after surgery was satisfactory. Conclusions: The combined treatment of surgery and radiotherapy constitutes an ideal therapeutic scheme in this type of tumor lesions. Endoscopy is a tool of great value in surgical approaches to the pineal region.

Schwannoma intraóseo en fémur, una presentación inusual. Reporte de caso / Intraosseous Schwannoma in femur, an unusual presentation. Case report

El Schwannoma o Neurilemoma es un tumor benigno de derivación neuroectodérmica que se origina en las células de Schwann, que constituyen la envoltura de los nervios. Es el tumor benigno más común de los nervios periféricos, tiene predisposición a originarse a partir de nervios periféricos sensoriales y puede presentarse como tumores en tejidos blandos. La presentación intraósea del Schwannoma es rara y corresponde al 0,2% de los tumores óseos primarios. Se presenta caso clínico de paciente masculino de 36 años de edad con tumor en cóndilo femoral medial de rodilla derecha de 4 años de evolución, cursando con dolor intermitente moderado a quien se le practicó el protocolo oncológico, imagenológico e histológico, de la Unidad de Oncología Ortopédica del estado Monagas. Se diagnosticó Schwannoma intraóseo, se procedió a realizar resección marginal y reconstrucción con alloinjerto y fijación con placa y tornillos con excelente evolución postoperatoria. El Schwannoma intraóseo es extraordinariamente raro y su ubicación en el fémur lo es aún más. El objetivo del presente trabajo es reportar un caso de Schwannoma Intraóseo, mostrar las estrategias para su diagnóstico y los tratamientos aplicados, así como la revisión de los datos al respecto existentes en la literatura(AU)

Schwannoma or Neurilemoma is a benign tumor of neuroectodermal derivation that originates in Schwann cells, which constitute the nerve sheath. It is the most common benign tumor of the peripheral nerves, has a predisposition to originate from peripheral sensory nerves, and can present as soft tissue tumors. The intraosseous presentation of Schwannoma is rare and corresponds to 0,2% of primary bone tumors. A clinical case of a 36-yearold male patient with a tumor in the medial femoral condyle of the right knee of 4 years of evolution is presented, presenting with moderate intermittent pain who underwent the oncological, imaging and histological protocol of the Oncology Unit. Monagas State Orthopedic. Intraosseous Schwannoma was diagnosed, marginal resection and allograft reconstruction and plate and screw fixation were performed with excellent postoperative evolution. Intraosseous Schwannoma is extraordinarily rare and its location in the femur is even more so. The objective of this paper is to report a case of Intraosseous Schwannoma, show the strategies for its diagnosis and the treatments applied, as well as the review of the existing data in the literature(AU)

Sarcoma de Ewing multifocal: presentación de un caso pediátrico / Multifocal Ewing sarcoma: presentation of a pediatric case / Sarcoma de Ewing Multifocal: apresentação de um caso pediátrico

Introducción: el Sarcoma de Ewing es una neoplasia maligna de origen mesenquimático. Al momento del diagnóstico el 75% se presentan en forma localizada. Objetivo: comunicar un caso que por su presentación multifocal, generó dificultades diagnósticas. Caso clínico: niña de 6 años. Consulta por traumatismo de mano derecha tras caída de su altura 24 horas previas, constatándose en mano y puño derecho edema, calor y eritema, movilidad conservada. No fiebre. Radiografía: aumento del diámetro del tercer metacarpiano, imagen esmerilada, no trazos de fracturas. Ingresa con planteo de celulitis. Anemia leve microcítica, hipocrómica. Proteína C reactiva 82 mg/l. Recibe clindamicina intravenosa 72 horas, completa 14 días vía oral. Persistencia de alteraciones en puño y mano derecha, agrega tumoración de raíz nasal con desviación del eje, indolora. Fosfatasa alcalina, lactato deshidrogenasa, fosfatemia, calcemia normales. Resonancia magnética: alteración morfoestructural de radio, olecranon y tercer metacarpiano, fractura de olecranon y radio, reacción perióstica. Pet-Scan: lesión extensa ósea en macizo facial, tibias, cúbitos, humero derecho y clavícula. Biopsia 3er metacarpiano: tumor de células pequeñas, redondas azules, CD99 y vimentina positivo. Comienza poliquimioterapia y radioterapia sin complicaciones. Conclusiones: es frecuente que las manifestaciones clínicas iniciales sean confundidas con entidades más frecuentes, como post-traumáticas y/o inflamatorias, tal como ocurrió en este caso. Posteriormente, la aparición de nuevas lesiones y compromiso del estado general orientó el abordaje diagnóstico de la patología tumoral. La confirmación exige el estudio anatomopatológico con estudio inmunohistoquímico. La presencia de metástasis óseas constituye un factor de mal pronóstico y dificulta el abordaje terapéutico.

Introduction: Ewing's sarcoma is a malignant neoplasm of mesenchymal origin. At the time of diagnosis 75% of the cases are localized. Objective: to report a case that, due to its multifocal presentation, generated diagnostic difficulties. Clinical case: 6-year-old girl. She consulted for right hand trauma after a fall from her height 24 hours earlier, with edema, warmth and erythema in the right hand and fist, with preserved mobility. No fever. X-ray: increase in the diameter of the 3rd metacarpal, frosted image, no traces of fractures. Admitted with cellulitis. Mild microcytic anemia, hypochromic. C-reactive protein 82mg/l. Receives intravenous clindamycin 72 hours, completes 14 days orally. Persistence of alterations in fist and right hand, adds tumor of nasal root with deviation of the axis, painless. Alkaline phosphatase, lactate dehydrogenase, phosphatemia, normal calcemia. MRI: morphostructural alteration of radius, olecranon and 3rd metacarpal, fracture of olecranon and radius, periosteal reaction. Pet-Scan: extensive bone lesion in facial mass, tibiae, ulnae, right humerus and clavicle. Biopsy 3rd metacarpal: small cell tumor, blue round, CD 99 and vimentin positive. Polychemotherapy and radiotherapy were started without complications. Conclusions: it is frequent that the initial clinical manifestations are confused with more frequent entities, such as post-traumatic and/or inflammatory, as occurred in this case. Subsequently, the appearance of new lesions and compromise of the general condition guided the diagnostic approach of the tumor pathology. Confirmation requires anatomopathological study with immunohistochemical study. The presence of bone metastases constitutes a poor prognostic factor and hinders the therapeutic approach.

Introdução: O sarcoma de Ewing é um neoplasma maligno de origem mesenquimatosa. No momento do diagnóstico, 75% dos casos são localizados. Objetivo: Relatar um caso que, devido a sua apresentação multifocal, causou dificuldades diagnósticas. Caso clínico: Menina de 6 anos. Ela consultou por traumatismo à mão direita após cair de sua altura 24 horas antes, com edema, calor e eritema na mão direita e punho, com mobilidade preservada. Sem febre. Raio-X: aumento do diâmetro do 3º metacarpo, imagem fosca, sem vestígios de fraturas. Admitido com a sugestão de celulite. Anemia microcítica leve, hipocrómica. Proteína C reativa 82mg/l. Recebe clindamicina intravenosa por 72 horas, completa 14 dias por via oral. Persistência de alterações no punho e mão direita, tumor indolor da raiz nasal com desvio do eixo. Fosfatase alcalina, desidrogenase láctica, fosfataemia, calcemia normal. IRM: alteração morfo-estrutural do rádio, olecrânio e 3º metacarpo, fratura do olecrânio e do rádio, reação periosteal. Pet-Scan: extensa lesão óssea na massa facial, tíbia, ulnae, úmero direito e clavícula. Biópsia do 3º metacarpo: tumor de pequenas células, redondo azul, CD 99 e vimentina positiva. Ela iniciou a poli-quimioterapia e radioterapia sem complicações. Conclusões: É comum que as manifestações clínicas iniciais sejam confundidas com entidades mais freqüentes, tais como pós-traumáticas e/ou inflamatórias, como ocorreu neste caso. Posteriormente, o aparecimento de novas lesões e o envolvimento do quadro geral levaram a uma abordagem diagnóstica da patologia tumoral. A confirmação requer um estudo anatomopatológico com estudo imuno-histoquímico. A presença de metástases ósseas é um fator de mau prognóstico e dificulta a abordagem terapêutica.

Sarcoma de Ewing extraesquelético: relato de um caso raro e exuberante simulando lipoma / Extraskeletal Ewing's sarcoma: report of a rare and exuberant case simulating lipoma

Sarcoma de Ewing extraesquelético (EES) é tumor raro e agressivo, acomete mais homens entre 10-20 anos e representa 25% dos sarcomas de Ewing. Caso relatado pelo diagnóstico prévio de lipoma de crescimento acelerado, destacando a importância do diagnóstico histopatológico. Masculino, 14 anos, apresentando tumoração de 10x10cm no ombro direito há um ano, com ultrassonografia sugestiva de lipoma. Realizada exérese da lesão, sendo confirmado EES pela imuno-histoquímica. O diagnóstico de EES em jovens é desafiador frente a outras tumorações subcutâneas, sendo a histopatologia imprescindível. A rápida progressão do tumor e os elevados índices metastáticos evidenciam a importância da terapêutica precoce.

Extraskeletal Ewing sarcoma (EES) is a rare tumor that affects men between 10-20 years old and represents 25% of Ewing sarcomas. We report a case due to the previous diagnosis of a fast-growing lipoma to highlight the importance of histopathological diagnosis. A 14-year-old boy presented 10x10 cm tumor in the right shoulder for a year with ultrasonography suggesting lipoma. The lesion was excised and EES was confirmed by immunohistochemical analysis. EES diagnosis in young people is challenging compared to subcutaneous tumors, and histopathology is essential. The rapid progression of the tumor and high metastatic rates highlight the significance of early treatment.

Sarcoma de Ewing extraesquelético subcutáneo primario / PNET. Reporte de caso y revisión de la literatura / Primary subcutaneous extraskeletal Ewing's sarcoma (PNET). A case report and literatura review

Resumen La familia de tumores del Sarcoma de Ewing (ES) es un grupo poco habitual de neoplasias malignas que pueden localizarse en regiones: óseas como extraóseas. El tumor neuroectodérmico primitivo (PNET), muestra más diferenciación neuronal que el Sarcoma de Ewing (ES) y rara vez se presenta en piel y tejidos subcutáneos. Ocasionalmente se presenta como un cáncer de piel primario, que tiene como características clínicas: una tumoración superficial, en promedio mide 2-3 cm, de consistencia blanda, móvil y algunas veces dolorosa. Los lugares más afectados son espacios paravertebrales, extremidades inferiores, cabeza, cuello y pelvis. Describimos el caso de un varón de 13 años, con 2 tumores superficiales en cuero cabelludo, el examen histológico presentaba una proliferación de células de pequeño tamaño, basófilas, monomorfas; con perfil inmunohistoquímico FLI1 positivo, compatible con PNET.

Summary Ewing´s sarcomas are a less common malignant neoplasms that can be located both in skeletal and extra skeletal areas. The primitive neuroectodermic tumor (PNET) shows more neuronal differentiation than Ewing´s sarcoma and rarely invades the skin and soft tissues. This tumor occasionally presents as a primary skin cancer which has distinctive features such as a superficial tumor with a 2-3 cm, soft, mobile and eventually painful. Most affected areas of the body are paravertebral spaces, lower limbs, head, neck and pelvis. We report here the case of a 13 year old male presenting with 2 superficial tumors located on the scalp, the histo pathological examination revealed a proliferation of small, basophilic and monomorphic cells that showed FLI1 positive immunohistochemistry pattern compatible with PNET.

Tumor de Askin / Askins tumor

Resumen El tumor de Askin es una rara neoplasia de la pared torácica que pertenece al grupo de tumores neuroectodérmicos primitivos que incluyen desde el sarcoma de Ewing hasta el neuroepitelioma. Su principal característica es el dolor. Los tumores neuroectodérmicos primitivos (PNET) derivan de células pluripotenciales neuroectodérmicas de la cresta neural y pertenecen al grupo de tumores de células pequeñas redondas y azules que se caracterizan por un comportamiento agresivo, con manifestaciones clínicas diversas que dependen de su localización anatómica. La localización más común es la toracopulmonar, seguida por el área pélvica. Las metástasis normalmente afectan a los pulmones, huesos, hígado y cerebro. Su diagnóstico se basa en estudios imagenológicos y se confirma con el estudio de histopatología en biopsia o en la resección quirúrgica.

Abstract The Askin's tumor is a rare neoplasm of the chest wall that belongs to the group of primitive neuroectodermal tumors (PNETs), which are derivatives from neuroectodermal pluripotent neural crest cells. The range of this type of tumors covers from Ewing's sarcoma to the neuroepithelioma and they belong to the group of small round blue cells tumors which are characterized for having an aggressive behavior with diverse clinical manifestations depending on their anatomical location. The most common location for the Askin's tumor is the thoracopulmonary area followed by the pelvic area and in the case of metastases the lungs, bones, liver and brain are the most affected parts. In order to identify this disease, the diagnosis of this type of tumor consists on image studies and the confirmation is made through a hispathology biopsy or surgical resection.

Sarcoma de Ewing extraóseo en la columna dorsal con compresión medular al momento del diagnóstico: Reporte de un caso / Primary extra-osseous Ewing sarcoma of the dorsal spine with spinal cord compression at diagnosis: Case report

Los tumores neuroectodérmicos primitivos a nivel extraóseo son una neoplasia muy rara, con pocas publicaciones en la literatura. Se reporta un caso de una paciente de nueve años quien se presentó con signos de compresión medular. Se estableció un grupo de diagnósticos diferenciales en el abordaje, entre los que debió incluirse la patología oncológica. En la paciente, se observó la presencia de una masa en la columna dorsal con compromiso del cordón medular, que requirió cirugía descompresiva de urgencia y, posteriormente, se diagnosticó sarcoma de Ewing. Cabe resaltar la importancia del caso debido a la baja incidencia del origen extraóseo en esta neoplasia y su rara localización en la columna dorsal, y destacar la presencia de la compresión medular como forma de presentación del cáncer en pediatría, además de la poca información que, hasta el momento, se posee referida al mejor abordaje terapéutico en esta patología, en esta localización.

Extraosseous primitive neuroectodermal tumors are very rare neoplasms. Only a few cases have been published in the literature. This report is about a 9-year-old female patient whose clinical manifestations showed spinal cord compression, so different diagnosis should be considered, including oncology disease. The patient showed a mass of the dorsal spine with spinal cord compression. She was diagnosed with Ewing Sarcoma after surgical intervention and pathology study. It is necessary to highlight the importance of the present case due to the low incidence of the extraosseous Ewing Sarcoma, and its infrequent location at the dorsal spine and the spinal cord compression as initial presentation of pediatric cancer, as well as the poor information related to the best therapeutic strategy to treat this disease at this location.

Supratentorial Atypical Rhabdoid Teratoid Tumor ­ A Case Report

Atypical rhabdoid teratoid tumors (ARTTs) are rare embryonic tumors, usually localized in the posterior fossa and diagnosed in children under 3 years-old. The treatment includes surgical resection, radio and chemotherapy, and the prognostic is unfavorable, with an average median survival of 1 year. We present the case of a 3-year-old patient, with history of headache and vomiting, followed by absence seizures, temporal automatism, syncope accompanied by sialorrhea and sphincteric loss succeeded by a postictal period. Surgical excision was performed and the anatomopathological study confirmed ARTT. The ARTTs are embryonic tumors, a category in which medulloblastoma and primitive neuroectodermal tumors (PNETs) represent the most common central nervous system (CNS) malignancies in childhood.

Tumores teratóides rabdóides atípicos (TTRA) são tumores embrionários raros, geralmente localizados na fossa posterior e diagnosticados em crianças com menos de 3 anos de idade. O tratamento inclui ressecção cirúrgica, radio e quimioterapia. Contudo, o prognóstico é desfavorável, com uma sobrevida média de 1 ano. Apresentamos o caso de um paciente de 3 anos de idade, com quadro de cefaléia e vômitos, companhados por automatismo temporal e perda de consciência, seguidos por período pós-ictal. A ressonância nuclear magnética (RNM) do encéfalo evidenciou lesão frontal compatível com tumor intra-axial, efeito de massa local e invasão do corpo caloso. Foi realizada excisão cirúrgica, e o estudo anatômico-patológico confirmou TTRA. Os TTRA são tumores embrionários, categoria na qual o meduloblastoma e os tumores neuroectodermais primitivos representam as malignidades mais comuns no sistema nervoso central de crianças.

Sarcoma de Ewing extraesquelético de rápido crecimiento en paciente de 2 años: Reporte de caso / Fast growing extraskeletal Ewing sarcoma in a 2 year old patient: Case report

El sarcoma de Ewing forma parte de una familia de tumores que se caracterizan por presentar translocaciones que involucran al gen EWS y algún miembro de la familia ETS que posee un dominio de unión al ADN. Se presenta el caso de un paciente de dos años de edad con una masa cervical de crecimiento rápido que por compresión local comprometió estructuras nerviosas manifestándose inicialmente con un retardo en el neurodesarrollo. Se diagnosticó Sarcoma de Ewing/Tumor neuroectodérmico primitivo por biopsia. Este es un tipo de tumor raro con una presentación inusual a nivel cervical; el cual debe tenerse en cuenta al momento de evaluar pacientes con masas cervicales en especial las de crecimiento rápido con el fin de dar un tratamiento preciso y oportuno.

Ewing's sarcoma is part of a family of tumors that is characterized by translocations that involve the EWS gene and a member of the ETS family that has a DNA binding domain. The case of a two-year-old patient who was admitted in our institution because of a rapidly growing cervical mass associated to neurodevelopment setback and functional gradual loss due to nerve compression. Ewing's sarcoma / primitive neuroectodermal tumor was diagnosed by biopsy. This is a rare type of tumor with an unusual presentation in this location; which should be taken into account when assessing a patient with cervical masses, especially those of rapid growth in order to provide an accurate and opportune treatment for improving outcomes.

Characterization, survival analysis, and expression of IGFR in tumor samples from patients diagnosed with Ewing family tumors treated at the Barretos Cancer Hospital / Caracterização, análise de sobrevida e expressão de IGFR nas amostras tumorais dos pacientes com diagnóstico dos tumores da família Ewing tratados no Hospital de Câncer de Barretos

ABSTRACT OBJECTIVES: Study the clinical characteristics of patients diagnosed with Ewing family tumors (EFTs) and survival analysis based on risk criteria and expression of the surface protein known as insulin-like growth factor (IGFR). METHODS: This was a retrospective cohort study based on clinical data from 77 patients diagnosed with EFTs treated by the Department of Pediatric Oncology at the Barretos Cancer Hospital in a period between 2003 and 2012. Biological samples of patients were examined for the presence of the surface receptor IGFR. RESULTS: The overall survival rate (OSR) of patients included in the study was 45% at five years, and EFS was 30% at five years. Metastasis at diagnosis was present in 44.2% of the sample; 88.2% of the sample was male (p < 0.001). The evaluation of the expression of IGFR in biological samples of patients was associated with the variable metastasis at diagnosis (p < 0.001). Worse prognosis was observed in patients with extrapulmonary metastasis (p = 0.009). The local treatment of neoplasia presented better prognosis in patients undergoing local surgical treatment (p < 0.001). CONCLUSIONS: These results showed a higher incidence of metastasis at diagnosis in patients with EFTs treated at the Barretos Cancer Hospital (BCH). Extrapulmonary metastases were a negative prognostic factor in this study. Surgical treatment of the primary tumor was a factor for better prognosis. Strong expression of IGFR was more frequent in patients with metastases at diagnosis, but did not represent a prognostic factor for EFTs.

RESUMO OBJETIVO: Estudar as características clínicas dos pacientes com diagnóstico de tumores da família Ewing (TFEs) e analisar a sobrevida baseada em critérios de risco e expressão da proteína de superfície conhecida como fator de crescimento semelhante à insulina (IGFR). MÉTODOS: Estudo de coorte retrospectivo, com base em dados clínicos de 77 pacientes com diagnóstico de TFEs tratados pelo Departamento de Oncologia Pediátrica do Hospital de Câncer de Barretos entre 2003 e 2012. Amostras biológicas de pacientes foram examinadas quanto à presença do receptor de superfície IGFR. RESULTADOS: Em cinco anos, a taxa de sobrevida global (SG) dos pacientes incluídos no estudo foi de 45% e a taxa de sobrevida livre de eventos (SLE) foi de 30%. Metástases no momento do diagnóstico foram observadas em 44,2% da amostra, sendo que desses, 88,2% eram do sexo masculino (p < 0,001). A avaliação da expressão de IGFR nas amostras biológicas dos pacientes apresentou associação com a variável metástase ao diagnóstico (p < 0,001). Pacientes com metástase extrapulmonar apresentaram pior prognóstico (p = 0,009). A modalidade de tratamento local da neoplasia apresentou melhor prognóstico em pacientes submetidos ao tratamento cirúrgico local (p < 0,001). CONCLUSÃO: Os resultados evidenciaram uma maior incidência de metástase ao diagnóstico nos pacientes com diagnóstico de TFEs tratados no Hospital de Câncer de Barretos. A metástase de localização extrapulmonar foi fator de pior prognóstico no estudo. O tratamento cirúrgico do tumor primário foi fator de melhor prognóstico. A expressão forte de IGFR esteve mais presente nos pacientes com metástase ao diagnóstico, porém não se mostrou como fator prognóstico nos TFEs.

Embryonic Tumor with Abundant Neuroepithelium and True Rosettes (ETANTR): Case Report and Literature Review

The embryonal tumor with abundant neuropil and true rosettes (ETANTR) is an extremely rare variant of the primitive neuroectodermal tumor (PNET). About 80 cases have been reported since its first description in the literature, in 2000. The ETANTR occurs in very young patients, especially children under 6 years of age. It is found mainly in the cerebral cortex. Headache, focal neurological signs, seizures, increased head circumference and psychomotor developmental delay are the most frequent symptoms of ETANTR. Histologically, it displays the features of an ependymoblastoma and a neuroblastoma, showing areas of neuroepithelium fibrillar rosettes with ependymoblastic zones and interposed undifferentiated neuroepithelial cells. The ETANTR is distinguishable from other embryonal tumors due to the abundance of neuroepithelium. Genetic studies have demonstrated the presence of polysomy of chromosome 2 and chromosome 19q13.42 amplification. This is an extremely aggressive tumor with a mean survival ranging from 9 to 48 months. We present the first report in Brazil, published in indexed literature, of an ETANTR case involving a young child.

O tumor embrionário com neurópilo abundante e rosetas verdadeiras (TENARV) é uma variante muito rara do tumor neuroectodérmico primitivo (TNEP), com cerca de 80 casos publicados desde a sua primeira descrição na literatura, em 2000. O TENARV ocorre em pacientes muito jovens, especialmente crianças abaixo de 6 anos de idade, atingindo principalmente o córtex cerebral. Cefaleia, sinais focais, crise convulsiva, aumento do perímetro cefálico e atraso do desenvolvimento psicomotor são os sintomas mais frequentes da TENARV. Histologicamente, este tipo de tumor apresenta as características combinadas de um ependimoblastoma e um neuroblastoma, demonstrando áreas de neuroepitélio fibrilar com rosetas ependimoblásticas de permeio e zonas de células neuroepiteliais indiferenciadas. O TENARV é distinguível de outros tumores embrionários pela abundância de neuroepitélio. Estudos genéticos demonstram a presença de polissomia do cromossomo 2 e amplificação do cromossomo 19q13.42. Trata-se de um tumor extremamente agressivo, com sobrevida média entre 9 e 48 meses. Apresentamos o primeiro relato brasileiro, publicado em literatura indexada, de um caso de TENARV acometendo uma criança jovem.

Factores pronósticos y sobrevida en pacientes menores de 18 años con tumores de la familia del sarcoma de Ewing: experiencia de 10 años / Prognostic factors and survival in patients under 18 years of age with Ewing sarcoma family tumors: a 10-year experience

Objetivo: Describir las características clínicas y epidemiológicas, y determinar los factores pronósticos, sobrevida libre de evento (SLE) y sobrevida global (SG) de los pacientes con tumores de la familia del Sarcoma de Ewing (TFSE). Materiales y métodos: Estudio retrospectivo llevado a cabo en pacientes menores de 18 años con TFSE, atendidos en la Unidad de Oncología Pediátrica y del Adolescente del Hospital Edgardo Rebagliati entre 2006 y 2016. El análisis descriptivo se realizó mediante distribución de frecuencias. Para el análisis de SLE y SG se utilizaron las curvas de Kaplan-Meier. Se efectuó un análisis univariado y multivariado según modelo de regresión de Cox para variables demográficas, clínicas y quirúrgicas, y factores pronósticos. La medida de fuerza de asociación se expresó en hazard ratio (HR) e intervalo de confianza al 95% (IC 95%), y se consideró p<0.05 para diferencias significativas. Resultados: Se presentaron 29 casos de TFSE. La mediana de edad fue de 9 años (rango 2-17), el 55% fueron varones. La localización más frecuente fue la pelvis (31%). El 59% presentaron metástasis al diagnóstico. La SLE a 3 años en TFSE localizados fue del 40.4% (±14.4 EE) y con metástasis, 14.6% (±12.2, EE). La SG a 3 años en TFSE localizados fue del 53.9% (±17.8 EE) y en enfermedad metastásica, 15.1 % (±9.7, EE). El tamaño tumoral ≥5cm (HR 14.84, p=0.01) y la presencia de metástasis al debut (HR 3.23, p=0.01) fueron factores pronósticos independientes de peor SG. No hubo diferencia significativa en relación con el pronóstico según el sexo, edad, tipo histológico, compromiso de los bordes quirúrgicos o localización del tumor. Conclusiones: Los TFSE son altamente agresivos. Los factores pronósticos que contribuyen a una menor SLE y SG son la presencia de metástasis al debut de la enfermedad y un tamaño tumoral ≥5cm.

Objective: To describe the clinical and epidemiological characteristics, and to determine prognostic factors, event-free survival (EFS) and overall survival (OS) of patients with Ewing sarcoma family tumors (ESFT). Materials and methods: A retrospective study conducted in patients under 18 years of age with ESFT, treated at the Unit of Pediatric and Adolescent Oncology of the Hospital Edgardo Rebagliati between January 2006 and June 2016. The descriptive analysis was performed by frequency distribution. Kaplan-Meier curves were used for EFS and OS analysis. Univariate and multivariate analyses were performed according to the Cox regression model for demographic, clinical and surgical variables, and prognostic factors. The measure of strength of association was expressed in hazard ratio (HR) and 95% confidence interval (95% CI), and p<0.05 was considered for significant differences. Results: There were 29 cases of ESFT. The median age was 9 years (range 2-17), 55% were males. The most frequent location was the pelvis (31%). Fifty-nine percent (59%) had metastasis at diagnosis. The 3-year EFS in localized ESTF was 40.4% (± 14.4 EE) and with metastasis was 14.6% (± 12.2, EE). The 3-year OS in localized ESTF was 53.9% (± 17.8 EE) and with metastatic disease was 15.1% (± 9.7, EE). The tumor size ≥5cm (HR 14.84, p=0.01) and the presence of metastasis at the onset of the disease (HR 3.23, p=0.01) were independent prognostic factors of worse OS. There was no significant difference in prognosis regarding the gender, age, histological type, involvement of surgical borders or location of the tumor. Conclusions: ESFT are highly aggressive. The prognostic factors that contribute to a lower EFS and OS are the presence of metastasis at the onset of the disease and a tumor size ≥5cm.

Caso Clínico: Tumor de Askin / Clinical Case: Askin's Tumor

Introducción: El tumor neuroectodérmico primitivo (PNET) de la pared torácica también denominado tumor de Askin es una neoplasia rara y agresiva, que afecta mayoritariamente a niños y adolescente. Caso Clínico: Se reporta el caso de un joven de 17 años que presentó una gran tumoración subescapular derecha, acompañado de dolor y disnea a quien realizó previa quimioterapia neoadyuvante y dada buena repuesta, resección tumoral con márgenes oncológicos más reconstrucción plástica de hemitórax derecho. Constatándose como hallazgo intraoperatorio, no evidente en imágenes, metástasis pulmonar. Presenta evolución favorable posquirúrgica con posterior recurrencia local y metástasis a distancia, sin respuesta a la quimioterapia adyuvante con fallecimiento 7 meses luego de la cirugía. Conclusión: En el presente caso el TA tuvo una sobrevida corta a pesar el tratamiento neoadyuvante, resección quirúrgica y nuevo ciclo de tratamiento quimioterápico.

Introduction: The primitive neuroectodermal tumor (PNET) of the thoracic wall also called Askin's tumor is a rare and aggressive neoplasm, affecting mainly children and adolescents. Clinical case: We report the case of a 17-year-old boy who presented a large right subscapular tumor, accompanied by pain and dyspnea who underwent previous neoadjuvant chemotherapy and given good response, tumor resection with oncological margins plus plastic reconstruction of the right hemithorax. Being confirmed as an intraoperative finding, not evident in images, pulmonary metastasis. It presents favorable postoperative evolution with subsequent local recurrence and distant metastasis, without response to adjuvant chemotherapy with death 7 months after surgery. Conclusion: In the present case, the TA had a short survival despite neoadjuvant treatment, surgical resection and a new cycle of chemotherapy treatment.

Sarcoma de Ewing extraóseo de origen ginecológico: tumor neuroectodérmico primitivo de localización infrecuente. Reporte de caso y revisión de la literatura / Extraosseous Ewing's sarcoma of gynaecological origin: primitive neuroectodermal tumour of infrequent location. Case report and review of the literature

RESUMEN Objetivo: Presentar el caso de una paciente con diagnóstico de sarcoma de Ewing extraóseo cervicovaginal y realizar una revisión de la literatura, con especial atención al diagnóstico histopatológico y las posibilidades terapéuticas de estas neoplasias. Materiales y métodos: Mujer de 53 años de edad, en seguimiento por antecedente de cáncer de mama ductal infiltrante, que presenta un sangrado genital anómalo. Tras la exploración física y los estudios con pruebas de imagen se observa una tumoración cervicovaginal que se extiende hacia la pelvis, de la cual se toma una biopsia. El resultado de la misma es compatible con sarcoma de Ewing/ tumor neuroectodérmico primitivo cervical. Se realizó una búsqueda en las bases de datos Medline vía PubMed, con los términos: "sarcoma; ewing", "neuroectodermal tumors", "primitive", "peripheral" y "uterine cervical neoplasms", rastreando artículos de revisión bibliográfica, reportes y series de casos clínicos en inglés y español publicados desde 2009. Resultados: Se hallaron doce artículos correspondientes a revisiones de literatura, reportes y series de casos clínicos, donde se describen los aspectos más importantes referentes al tratamiento, las manifestaciones clínicas y el diagnóstico molecular, inmunohistoquímico e histopatológico de esta patología. Conclusiones: El tumor de Ewing extraóseo ginecológico es una lesión extremadamente rara, cuyo diagnóstico se basa en el estudio de la morfología histopatológica, el examen inmunohistoquímico y las pruebas genéticas. La combinación de cirugía, quimioterapia y radioterapia se considera actualmente el tratamiento de elección.

ABSTRACT Objective: To present the case of a female patient diagnosed with cervico-vaginal extraosseous Ewing's sarcoma and to conduct a review of the literature, with special emphasis on histopathological diagnosis and therapeutic options for these neoplastic lesions. Materials and methods: Woman of a 53 year-old on follow-up due to a history of infiltrating ductal breast cancer, who presents with abnormal genital bleeding. On physical examination, a cervico-vaginal mass extending to the pelvis was observed. A biopsy was taken and the result was consistent with Ewing's sarcoma/primitive neuroectodermal tumour of the cervix. A search was conducted in the Medeline databases via PubMed, using the terms "sarcoma; ewing", "neuroectodermal tumours", "primitive", "peripheral" and "uterine cervical neoplasms", looking for reviews of the literature, case reports and clinical case series both in English and Spanish, published since 2009. Results: Overall, 12 articles were found, including reviews of the literature, case reports and clinical case series, describing the most relevant aspects of the treatment, clinical manifestations and molecular, immunohistochemical and histopathological diagnosis of this disease. Conclusions: Gynaecological extraosseous Ewing's tumour is an extremely rare lesion whose diagnosis is based on the study of the histopathological morphology, immunohistochemical tests and genetic testing. A combination of surgery, chemotherapy and radiotherapy is considered the treatment of choice at the present time.

Sarcoma de Ewing extraóseo en espacio epidural / Extraosseous Ewing's sarcoma in spinal epidural space

El sarcoma extraóseo de Ewing pertenece a la familia de tumores neuroectodérmicos que derivan de la cresta neural, característico por su agresividad. Varias localizaciones se han descrito, sin embargo, la presentación epidural es rara. El pronóstico ha mejorado por nuevos esquemas oncológicos y están en estudio otras dianas terapéuticas.

Extraosseous Ewing's sarcoma belongs to the family of neuroectodermal tumors that derive from the neural crest, characteristic of its aggressiveness. Several locations have been described, however,epidural presentation is rare. Prognosis has been improved by new oncological regimens and other therapeutic targets are being studied.

Tumor neuroectodérmico primitivo do terceiro ventrículo associado a metástase leptomeníngea / Primitive Neuroectodermal Tumor of the Third Ventricle Associated with Leptomeningeal Metastases

Os tumores neuroectodérmicos primitivos (PNET) são tumores malignos, não diferenciados, raramente apresentados na idade adulta, principalmente os de localização supratentorial. Apresentamos neste artigo o caso de um paciente de 19 anos, que nos chegou transferido de outro hospital com o diagnóstico de hidrocefalia. A existência do PNET associado a carcinomatose leptomeníngea foi comprovada como causa da hidrocefalia.

Primitive neuroectodermal tumors (PNET) are malignant tumors exceptionally present in adulthood, especially those with supratentorial location. In this article, we present the case of a young man who was transfer fromanother institutionwith the diagnosis of hydrocephalus; during his stay, we corroborated the presence of supratentorial PNET associated to leptomeningeal carcinomatosis that was a cause of hydrocephalus.

Tumor neuroectodérmico primitivo de la pared torácica: tumor de Askin en niños / Primitive neuroectodermal tumor of the chest wall: Askin tumor in children

Resumen Antecedentes. El tumor neuroectodérmico primitivo (TNEP) de la pared torácica o Tumor de Askin, es un tumor maligno clasificado dentro de los TNEP periféricos y perteneciente a los tumores de la familia del sarcoma de Ewing (FSE). Este tipo de neoplasia de la región toracopulmonar es muy poco frecuente y suele presentarse con mayor frecuencia en la población pediátrica. Objetivo. Describir algunas características de pacientes con Tumor de Askin de la Fundación Hospital La Misericordia. Materiales y métodos. Se realizó un análisis retrospectivo de los casos atendidos en una sola institución, Fundación Hospital de la Misericordia, en un lapso de 16 años. Resultados. Se encontraron 8 pacientes, 7 varones, 4 con metástasis al diagnóstico, 2 en pulmón y 2 en hueso, a 2 se les hizo resección quirúrgica completa del tumor al diagnóstico, los demás pacientes fueron llevados a biopsia y quimioterapia citoreductora previa a la cirugía para resección tumoral. Todos recibieron quimioterapia con protocolos para Sarcoma de Ewing y radioterapia en 6 casos. A la fecha están vivos 5 pacientes (62%) con una mediana de seguimiento de 32 meses; 3 de ellos tenían metástasis en el diagnóstico. De los 3 pacientes muertos, 2 no tenían metástasis en el diagnóstico, ambos recayeron y fallecieron por progresión de enfermedad; el otro abandonó el tratamiento a los 6 meses del diagnóstico. Dos pacientes en recaída recibieron quimioterapia de 2 líneas a altas dosis con rescate autólogo, uno está vivo y el otro falleció por progresión de la enfermedad. Conclusión. Se describieron las características clínicas, de laboratorio, diagnóstico, tratamiento y pronóstico de este grupo de pacientes.

Summary Background. The primitive neuroectodermal tumor (TNEP) of the chest wall, or Askin tumor, is a malignant neoplasia classified within the Ewing family of tumours (FSE). This particular type of malignancy of the chest wall is rare and usually appears in the pediatric population. Objective. Describe some characteristics of patients with Askin tumor of the Fundacion Hospital de La Misericordia. Materials and methods. A retrospective analysis of cases treated at a single institution, Fundación Hospital de la Misericordia, in a 16 years period was performed. Results. 8 patients were found, 7 boys, 4 with metastases at the diagnosis, 2 in lungs and 2 in bone, 2 underwent surgery at diagnosis. For the other 6 patients surgical resection was done after chemotherapy. All patients received chemotherapy and 6 received radiotherapy. To date, 5 patients are alive (62 %) with a median follow up of 32 months; 3 of them had metastases at diagnosis. 3 patients died, 2 of which had no metastases in the diagnosis, both relapsed and died of disease progression, the other abandoned treatment at 6 months after diagnosis. Other 2 patients that relapsed received chemotherapy plus autologous transplant, one is alive and the other one died due to disease progression. Conclusion. Clinical, laboratory, diagnosis, treatment and prognosis characteristics of this patient group were described.

Supratentorial primary neuroectodermal tumor (PNET) inside the third ventricle in adult: an rare case report / Tumor neuroectodérmico primário (PNET) supratentorial no terceiro ventrículo em adulto: um raro relato de caso

The PNET of CNS are considered malignant undifferentiated tumors, and it represents about 2,8% of all tumors found on infants and teenagers, more rarely found on adults. In the present article will report the case of a patient, male, 23 years-old, with nodular lesion inside the third ventricle, admitted on emergency room with acute intense headache, drowsiness, vomiting and visual clouding, started three days before. Although there have been advances in diagnosis and treatment of PNET in children, few publications were found on the efficiency of available treatment options on adults. In our patient the lesion was completely removed by a anterosuperior interhemispheric transcallosal craniotomy, and subsequently diagnosed as PNET by anatomopathological. Postoperative hydrocephaly was installed and reverted with a ventriculoperitoneal shunt, with clinical and neurological status improvement. The patient died 18 months after diagnosis, due to respiratory hospitalar infection...

Os PNET do SNC são considerados tumores malignos indiferenciados e representam cerca de 2,8% de todos os tumores encontrados em crianças e adolescentes, sendo mais raramente encontrados em adultos. Neste presente artigo, relatamos o caso de um paciente, do sexo masculino, com 23 anos de idade, com lesão nodular dentro do terceiro ventrículo, que foi admitido na emergência com cefaleia intensa e aguda, sonolência, vômitos e turvação visual, iniciados três dias antes da admissão. Embora tenha havido avanços no diagnóstico e tratamento de PNET em crianças, poucas publicações foram encontradas sobre a eficiência de opções de tratamento disponíveis em adultos. No nosso paciente a lesão foi completamente removida por uma craniotomia ântero-transcalosa inter-hemisférica; posteriormente, ele foi diagnosticado como PNET por meio do exame anatomopatológico. A hidrocefalia instalada no pós-operatório foi revertida com uma derivação ventrículo-peritoneal, com melhora do quadro clínico e neurológico. O paciente morreu 18 meses após o diagnóstico, em decorrência de uma infecção hospitalar respiratória...

Tumor neuroectodérmico de seios paranasais: diagnóstico e tratamento / Primitive neuroectodermal tumor of paranasal sinuses: diagnosis and treatment

Tumores neuroectodérmicos primitivos (PNET) são neoplasias raras e extremamente agressivas encontradasprincipalmente em crianças e adultos jovens. São classificados em periféricos ou centrais, de acordo com sua origem. O diagnóstico baseia-se na história clínica, sendo essenciais exames de imagem, como tomografia computadorizada e ressonância magnética, e, para a confirmação, estudo anatomopatológico. É importante distingui-los de outros tumores de células redondas pequenas,como linfoma, sarcoma de Ewing extraósseo e rabdomiossarcoma,exigindo diferenciação imunoistoquímica através de marcadores específicos. O tratamento envolve cirurgia, quimioterapia e radioterapia, sendo o prognóstico pobre e a sobrevida bastante reservada. O objetivo deste artigo é discutir as características clínicas, radiográficas ehistológicas dos tumores neuroectodérmicos primitivos e seu tratamento...

Primitive neuroectodermal tumours (PNET) are rare and highly aggressive neoplasms found mainly in children and young adults. They are classified in peripheral or central according to their origin. The diagnosis is based on clinical history, computed tomography and magnetic resonance imaging, but the pathological study is the only way to confirm it. It´s very important to distinguish the PNET from other small cell round cell tumors - such as lymphoma, Ewing´s sarcoma and rhabdomyosarcoma – through immunohistochemical specific markers. The treatment includes surgical resection, chemotherapy and irradiation. The prognosis is poor and the survival rate is variable. This article aims to discuss the clinical, imagingand histological features of the primitive neuroectodermal tumors and their treatment...