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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.

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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)

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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.

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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.

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BACKGROUND: Embryonal tumor with multilayered rosettes (ETMR), NOS/C19MC- altered, is a rare and recently classified highly aggressive malignant brain tumor in the 2021 World Health Organization (WHO) classification of tumors of the central nervous system 5th edition. They are mostly diagnosed in children before the age of three years. Most of them are located in the supratentorial region. Prior to the reclassification of ETMR as a single entity, three distinct tumors, namely, embryonal tumor with abundant neuropil and true rosettes (ETANTR), ependymoblastoma (EBL) and medulloepithelioma (MEPL) were recognized. Recent studies showed that all the three entities have multilayered rosettes on morphology, sharing a common amplification of the C19MC locus at the chromosome 19q13.42 by fluorescence in situ hybridization, and highly specific immunohistochemical staining for LIN28A rendered their reclassification as a single entity. REPORT: A 13-year-old girl was rushed to the emergency room unconscious, with no return of spontaneous circulation after cardiopulmonary resuscitation. Autopsy revealed a left cerebellar hemisphere hemorrhagic tumor which histopathological examination revealed a multilayered ependymoblastic rosettes with abundant neuropil. The multilayered rosettes showed reactivity for vimentin but non-reactivity for pan-cytokeratin, the zones with abundant neuropil were reactive for synaptophysin consistent with a diagnosis of embryonal tumor with abundant neuropil and true rosettes now ETMR, NOS (WHO Grade 4) due to the lack of genetic testing for amplification of C19MC. CONCLUSION: ETMR is a highly aggressive CNS embryonal tumor with extremely poor prognosis. It should be considered in the differential diagnosis of pediatric brain tumors. Multilayered rosettes are a useful clue to histologic diagnosis.

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Introduction Primitive neuroectodermal tumors are rare neoplasms of the central nervous system that occur in children, with few reports in adults. These tumors are found most often in the cerebral hemispheres, with spinal cord disorders being rare. Case Report A 71-year-old man with motor and sensory deficits in the upper limbs, cervical pain, and urinary incontinence presented to the Neurosurgery Service. The physical examination revealed grade-III motor strength on the right side, grade IV- on the left upper limb, and grade IVþ on the left lower limb. A magnetic resonance imaging scan showed an expansive intramedullary lesion with a C3-C4 epicenter. Spinal decompression, lesional biopsy, and adjuvant radiotherapy were performed. The anatomopathological report showed a primitive neuroectodermal tumor. After a new treatment with adjuvant radiotherapy (20 1.8 Gy in the skull and neuroaxis and 5 1.8 Gy in tumor boost), the patient progressed without recurrence. Conclusion Since the characteristics of the tumor are similar to those of medulloblastoma, it is necessary to expand the studies on these lesions, to better understand their pathophysiology and list better diagnostic and therapeutic methods, in addition to those already available.

Introdução Os tumores neuroectodérmicos primitivos são neoplasias raras do sistema nervoso central que ocorrem em crianças, com escassos relatos em adultos. Esses tumores são encontrados mais frequentemente nos hemisférios cerebrais, sendo raros os acometimentos medulares. Relato de Caso Um homem de 71 anos com déficits motor e sensitivo em membros superiores, algia cervical e incontinência urinária apresentou-se ao Serviço de Neurocirurgia. O exame físico revelou força de grau III à direta, de grau IV- no membro superior esquerdo, e de grau IVþ no membro inferior esquerdo. Um exame de ressonância magnética denotou lesão expansiva intramedular com epicentro em C3- C4. Foram realizadas descompressão medular, biópsia lesional e radioterapia adjuvante. O laudo anatomopatológico evidenciou tumor neuroectodérmico primitivo. Após novo tratamento com radioterapia adjuvante (20 1,8 Gy no crânio e neuroeixo e 5 1,8 Gy em boost tumoral), o paciente seguiu sem recidiva. Conclusões Uma vez que as características do tumor se assemelham às do meduloblastoma, torna-se necessário ampliar os estudos acerca dessas lesões, a fim de compreender melhor sua fisiopatologia e elencar melhores métodos diagnósticos e terapêuticos, além dos já disponíveis.

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ABSTRACT Background Embryonal tumor with multilayered rosettes (ETMR), NOS/C19MC- altered, is a rare and recently classified highly aggressive malignant brain tumor in the 2021 World Health Organization (WHO) classification of tumors of the central nervous system 5th edition. They are mostly diagnosed in children before the age of three years. Most of them are located in the supratentorial region. Prior to the reclassification of ETMR as a single entity, three distinct tumors, namely, embryonal tumor with abundant neuropil and true rosettes (ETANTR), ependymoblastoma (EBL) and medulloepithelioma (MEPL) were recognized. Recent studies showed that all the three entities have multilayered rosettes on morphology, sharing a common amplification of the C19MC locus at the chromosome 19q13.42 by fluorescence in situ hybridization, and highly specific immunohistochemical staining for LIN28A rendered their reclassification as a single entity. Report: A 13-year-old girl was rushed to the emergency room unconscious, with no return of spontaneous circulation after cardiopulmonary resuscitation. Autopsy revealed a left cerebellar hemisphere hemorrhagic tumor which histopathological examination revealed a multilayered ependymoblastic rosettes with abundant neuropil. The multilayered rosettes showed reactivity for vimentin but non-reactivity for pan-cytokeratin, the zones with abundant neuropil were reactive for synaptophysin consistent with a diagnosis of embryonal tumor with abundant neuropil and true rosettes now ETMR, NOS (WHO Grade 4) due to the lack of genetic testing for amplification of C19MC. Conclusion: ETMR is a highly aggressive CNS embryonal tumor with extremely poor prognosis. It should be considered in the differential diagnosis of pediatric brain tumors. Multilayered rosettes are a useful clue to histologic diagnosis.

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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.

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Introducción: La cardiotoxicidad depende de varios factores y se manifiesta por las alteraciones cardiovasculares inducidas por los tratamientos oncoespecíficos en la función y morfología del corazón. Objetivo: Determinar las manifestaciones de cardiotoxicidad en pacientes pediátricos. Métodos: Estudio descriptivo transversal en el que se incluyeron 79 pacientes tratados en el Instituto de Oncología y Radiobiología de Cuba con irradiación tórax-mediastino, entre enero 2008 a diciembre 2014. La enfermedad de Hodgkin estaba presente en 54 pacientes y en 25, tumores del sistema nervioso central: meduloblastomas en 19 y tumores primarios neuroectodérmicos en 6 pacientes. A todos se les hizo historia clínica con examen físico, electrocardiograma de 12 derivaciones y ecocardiograma 2D pre- y postratamientos. Se analizaron las características demográficas y clínicas. Los enfermos con Hodgkin recibieron irradiación con intensidad de 2 400 centigray y de 2 340 los pacientes con tumores del sistema nervoso central; la poliquimioterapia se realizó con antraciclinas, vincristina, vinblastina y otros. Resultados: La edad promedio de todos los pacientes fue de 7 años con predominio del sexo masculino. No se registraron síntomas o signos de cardiotoxicidad. Conclusiones: En nuestra serie de pacientes la irradiación del área cardiaca aparentemente es bien tolerada, sin aparición temprana de cardiotoxicidad, ni en periodos de seguimiento de hasta 9 años. Aparecieron naúseas y leucopenias transitorias en algunos casos. No existió diferencias en las toxicidades en los grupos de tumores estudiados Es necesario mantener un seguimiento estrecho para descartar la aparición de cardiotoxicidad en años siguientes(AU)

Introduction: Cardiotoxicity depends on various factors and it is evident in cardiovascular alterations induced by oncologic treatments directed to the heart´s function and morphology. Objective: To determine the symptoms of cardiotoxicity in pediatric patients. Methods: Descriptive and cross-sectional study in which there were included 79 patients treated in the Cuban Institute of Oncology and Radiobiology with thorax-mediastine irradiation from January 2008 to December 2014. Hodgkin disease was present in 54 patients, tumors of the central nervous system in 25, medulloblastomas in 19, and neuroectodermic primary tumors in 6. All the patients underwent physical examination, 12 -lead electrocardiogram and pre- and post-treatment 2D echocardiograms to include in the clinical records. The demographic and clinic characteristics were analyzed. Hodgkin disease's patients received irradiation with 2 400 cGy intensity and the patients presenting tumors in the central nervous system with 2 340 cGy. Polychemotherapy was carried out with antracyclines, vincristine, vinblastine and others. Results: Average age of all patients was 7 years with predominance of male sex. Symptoms of cardiotoxicity were not recorded. Conclusions: In the serie of analyzed patients, irradiation in the heart area was apparently well beared by the patients, without early appearance of cardiotoxicity, not even in follow up periods of 9 years. Transitory nausea and leucopenia appeared in some cases. There are no differences in the toxicities of the different tumour's groups studied. It is necessary to keep the regular follow up to rule out the appearence of cardiotoxicity in the next years(AU)

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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.

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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.

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.

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Abstract Melanotic neuroectodermal tumor of infancy (MNTI) is a rare neoplasm that affects mainly children under 1 year of age. A 4-month-old boy was referred for evaluation of a lesion with 1 month of evolution. Intra-oral examination detected a firm upon palpation submucosal nodular mass, measuring 1.5 cm in diameter, affecting the anterior maxillary alveolar ridge and covered by a slightly blue mucosa with evident telangiectasia. The patient underwent an incisional biopsy and histological and immunohistochemical analyses revealed nests of AE1/AE3 positive epithelioid cells with abundant melanin pigmentation. Other cell types, resembling neuroblasts, were also present and positive for CD56, synaptophysin and enolase. The diagnosis of MNTI was established and the patient was referred for treatment. Conservative surgical resection was performed along with 3 adjacent teeth under general anesthesia. The patient is in follow-up for 1,5 year without recurrence. Conservative surgical management of MNTI may be an alternative to maxillectomy, contributing to the patient´s quality of life.

Resumo Tumor neuroectodérmico melanótico da infância (TNMI) é um neoplasma raro que afeta principalmente crianças com idade abaixo de 1 ano. Um menino de 4 meses foi referenciado para avaliação de uma lesão com 1 mês de evolução. O exame intra-oral detectou uma massa nodular submucosa firme à palpação, medindo 1,5 cm de diâmetro, afetando rebordo alveolar anterior da maxila e recoberta por mucosa de coloração levemente azulada com telangiectasia evidente. O paciente foi submetido à biopsia incisional e as análises histológica e imunohistoquímica revelaram ninhos compostos por células com abundante pigmento de melanina, positivas para AE1/AE3. Outro tipo celular, semelhante à neuroblastos, também estava presente e foram positivas para CD56, sinaptofisina e enolase. O diagnóstico de TNMI foi estabelecido e o paciente encaminhado para tratamento. Ressecção cirúrgica conservadora sob anestesia geral ao longo de 3 dentes adjacentes foi realizada. O paciente está em acompanhamento há 1 ano e meio sem sinais de recorrência. O tratamento cirúrgico conservador do TNMI pode ser uma alternativa à maxilectomia, contribuindo para a qualidade de vida do paciente.

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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.

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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.

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RESUMO

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.

OBJETIVO: Estudar as características clínicas dos pacientes com diagnóstico de tumores dafamília 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 no período 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.

RESUMO

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.

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RESUMO

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.

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RESUMO

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.

RESUMO

OBJECTIVE: To explore the imaging features of adrenal primitive neuroectodermal tumors (PNETs). MATERIALS AND METHODS: This retrospective study included seven patients with surgically and pathologically confirmed adrenal PNETs. Among them, six underwent computed tomography (CT) scans, and one underwent magnetic resonance imaging. The imaging findings, including size, shape, margin, hemorrhage, calcification, cystic degeneration, regional lymph nodes involvement, tumor thrombus formation and enhancement pattern, were retrospectively analyzed. RESULTS: Among the seven adrenal PNET patients, six were male, and one was female. The median age was 26 years (range 2-56 years). The disease generally presented with either insidious symptoms (n = 4) or non-specific symptoms, including right flank pain (n = 1) and left upper abdominal discomfort (n = 2). On the pre-enhanced CT images, the tumor usually appeared as a well-defined, rounded or oval, heterogeneous mass without calcification. Certain tissue characteristics, such as cystic degeneration (n = 5), capsule (n = 4) and hemorrhage (n = 2), were observed. Regional lymph node involvement was observed in three cases, and renal vein thrombus was observed in one case. All cases showed mild heterogeneous enhancement of the tumor on the enhanced CT images. CONCLUSION: An adrenal PNET commonly presents as a relatively large, well-defined, heterogeneous mass with cystic degeneration, necrosis and a characteristic mild contrast-enhancement pattern on multiphase enhanced images. PNET should be considered when the diagnosis of common tumors is not favored by signs on images. CLINICAL TRIAL REGISTRATION STATEMENT: This study was approved by the medical ethics committee of Xiangya Hospital, Central South University. The approval number is 201512538.

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