[Ewing sarcoma/primitive hepatic neuroectodermal tumor]. / Sarcoma de Ewing/tumor neuroectodérmico primitivo hepático.

Ewing sarcoma (ES) and primitive neuroectodermal tumor (PNET) belong to the group of neoplasms called small round cell tumors. PNETs have been divided into central and peripheral. ES and peripheral PNETs arise from bones, soft tissues, or peripheral nerves. We present a case of hepatic ES/PNET in a healthy man that began four months before consultation with abdominal symptoms and weight loss. Upper gastrointestinal endoscopy and laboratory tests revealed no notable findings. The abdominal tomography revealed an enlarged liver due to a solid lesion that involved all its segments with intravenous contrast enhancement and large areas of necrosis. It compressed and displaced neighboring structures. Core needle biopsy of the liver lesion was performed: small round cell neoplasm. Immunohistochemistry revealed negativity for CD45, CKA1/A3, chromogranin, synaptophysin, and cytokeratins CK7 and CK20. Dim CD56 expression and CD99, FLI-1, and NKX2 positivity. He underwent chemotherapy treatment with carboplatin and etoposide for 6 cycles with clinical improvement and tolerance. Control images showed reduction of the mass with involvement of the right hepatic lobe, involvement of the inferior vena cava, infiltration of the right adrenal gland and upper pole of the right kidney. He was referred to hepatobiliary surgery for surgical resection of the residual lesion. The patient rejected the proposed surgical procedure. Our objective is to highlight the clinical and histological diagnostic challenge of this entity that requires ruling out other clinical entities.

El sarcoma de Ewing (ES) y el tumor neuroectodérmico primitivo (PNET) pertenecen al grupo de neoplasias denominadas tumores de células pequeñas y redondas. Los PNET se dividen en centrales y periféricos. El ES y los PNET periféricos surgen del tejido óseo, de los tejidos blandos o nervios periféricos. Presentamos un caso de ES/PNET hepático en un hombre sano que inició cuatro meses antes de la consulta con síntomas abdominales y pérdida de peso. La endoscopia digestiva alta y la analítica no revelaron hallazgos relevantes. En la tomografía de abdomen se evidenció hígado aumentado de tamaño a expensas de lesión sólida que comprometía todos sus segmentos con realce al contraste endovenoso y grandes áreas de necrosis. Comprimía y desplazaba estructuras vecinas. Se realizó biopsia con aguja gruesa de la lesión hepática: neoplasia de células pequeñas y redondas. La inmunohistoquímica reveló negatividad para CD45, CKA1/A3, cromogranina, sinaptofisina y citoqueratinas CK7 y CK20. Expresión tenue de CD56 y positividad de CD99, FLI-1 y NKX2. Realizó tratamiento quimioterápico con carboplatino y etopósido por 6 ciclos con mejoría clínica y tolerancia al mismo. En imágenes de control se evidenció reducción de la masa con afección del lóbulo hepático derecho, compromiso de la vena cava inferior, infiltración de la glándula suprarrenal y polo superior del riñón derechos. Se remitió a cirugía hepatobiliar para resección quirúrgica de la lesión residual. El paciente rechazó el procedimiento quirúrgico. Nuestro objetivo es destacar el desafío diagnóstico clínico e histológico de esta entidad que obliga a descartar otras entidades clínicas.

Tumor de Askin: un tumor infrecuente de la pared torácica / Askin tumor: a rare tumor of the chest wall / Tumor de Askin: um tumor raro da parede torácica

El tumor de Askin o tumor primitivo neuroectodérmico es una neoplasia de células pequeñas redondas que se origina de los tejidos blandos de la pared torácica, probablemente a partir de células embrionarias que migran de la cresta neural. Son tumores muy agresivos que metastatizan rápidamente y de forma diseminada. Clínicamente, los pacientes presentan una masa de tejidos blandos en la pared del tórax que puede cursar o no con dolor. Otras manifestaciones incluyen disnea, tos, pérdida de peso, síndrome de Horner y adenopatías regionales. La radiografía de tórax muestra una masa heterogénea extrapulmonar, por lo general de gran tamaño, que puede opacificar completamente el hemitórax. El pronóstico del tumor de Askin es pobre; sin embargo, el uso combinado de quimioterapia, cirugía y radiación ha mejorado el resultado de forma drástica.

Askin tumor or primitive neuroectodermal tumor is a small round cells' neoplasia, which originates in the chest's soft tissues probably from embryonic cells that migrate from the neural crest. They are very aggressive tumors that metastasize and disseminate quickly. Clinically, patients show a soft tissue mass in the chest that may or may not be accompanied by pain. Other manifestations include dyspnea, cough, weight loss, Horner syndrome and regional lymphadenopathy. Chest radiographies show a usually large extrapulmonary heterogeneous mass, which can completely opacify the hemithorax. The prognosis is poor; however, the combined use of chemotherapy, surgery and radiation has improved results dramatically.

O tumor de Askin ou tumor neuroectodérmico primitivo é uma neoplasia de pequenas células redondas que se origina dos tecidos moles da parede torácica, provavelmente de células embrionárias que tem migrado da crista neural. São tumores muito agressivos que metastatizam e se disseminam rapidamente. Clinicamente, os pacientes apresentam uma massa de partes moles na parede torácica que pode ou não causar dor. Outras manifestações incluem dispneia, tosse, perda de peso, síndrome de Horner e linfadenopatia regional. A radiografia de tórax mostra uma massa extrapulmonar heterogênea, geralmente grande, que pode opacar completamente o hemitórax. O prognóstico do tumor de Askin é ruim; no entanto, o uso combinado de quimioterapia, cirurgia e radiação tem melhorado drasticamente o resultado.

BRCA1-associated RING domain-1 (BARD1) loss and GBP1 expression enhance sensitivity to DNA damage in Ewing sarcoma.

Ewing sarcoma is a fusion oncoprotein-driven primary bone tumor. A subset of patients (~10%) with Ewing sarcoma are known to harbor germline variants in a growing number of genes involved in DNA damage repair. We recently reported our discovery of a germline mutation in the DNA damage repair protein BARD1 (BRCA1-associated RING domain-1) in a patient with Ewing sarcoma. BARD1 is recruited to the site of DNA double stranded breaks via the poly(ADP-ribose) polymerase (PARP) protein and plays a critical role in DNA damage response pathways including homologous recombination. We thus questioned the impact of BARD1 loss on Ewing cell sensitivity to DNA damage and the Ewing sarcoma transcriptome. We demonstrate that PSaRC318 cells, a novel patient-derived cell line harboring a pathogenic BARD1 variant, are sensitive to PARP inhibition and by testing the effect of BARD1 depletion in additional Ewing sarcoma cell lines, we confirm that BARD1 loss enhances cell sensitivity to PARP inhibition plus radiation. Additionally, RNA-seq analysis revealed that loss of BARD1 results in the upregulation of GBP1 (guanylate-binding protein 1), a protein whose expression is associated with variable response to therapy depending on the adult carcinoma subtype examined. Here, we demonstrate that GBP1 contributes to the enhanced sensitivity of BARD1 deficient Ewing cells to DNA damage. Together, our findings demonstrate the impact of loss-of function mutations in DNA damage repair genes, such as BARD1, on Ewing sarcoma treatment response.

Tumor neuroectodérmico primitivo / Primitive neuroectodermal tumor

El tumor neuroectodérmico primitivo periférico (PPNET) o neuroepitelioma periférico es una neoplasia maligna de células redondas azules pequeñas derivadas de la cresta neural. Es uno de los tipos histológicos más indiferenciados entre los tumores malignos. Por ser indistinguible del sarcoma de Ewing, desde el punto de vista de imagen e histología, se considera una única patología para su estudio. Puede aparecer en la infancia o más frecuente en la adolescencia; el tratamiento incluye quimioterapia, cirugía y radioterapia. Se presenta el caso clínico de un paciente de 77 años de edad que consulta por ptosis palpebral y es catalogado como Síndrome de Horner. El diagnóstico final fue tumor neuroectodérmico periférico confirmado con histopatología e inmunohistoquímica

A primitive neuroectodermal tumor (PPNET) or peripheral neuroepithelioma is a malignant neoplasm of small round blue cells derived from the neural crest. It is one of the most undifferentiated histological types among malignant tumors, because it is indistinguishable from Ewing's sarcoma from the imaging and histology perspective. It considers a single pathology for this paper. It can appear in childhood or more frequently in adolescence; treatment includes chemotherapy, surgery, and radiation therapy. We present the clinical case of a 77 year-old patient who consulted for palpebral ptosis, and it classifies as Horner's Syndrome. The final diagnosis was a peripheral neuroectodermal tumorconfirmed with histopathology and immunohistochemistry.

Nasal peripheral primitive neuroectodermal tumor in a heifer: case report / Tumor neuroectodérmico primitivo periférico na cavidade nasal em uma novilha: relato de caso

This report described the clinical signs, pathological and immunohistochemical findings associated with a peripheral primitive neuroectodermal tumor (pPNET) in the nasal cavity of a heifer. The heifer exhibited severe breathing difficulty and dysphagia, which were increased over the last thirty days. At autopsy, a large, firm, and whitish mass was found occupying the left frontal sinus and most of the left nasal cavity. Histologically, a malignant neoplastic proliferation was observed, which was composed of small cells typically arranged in nests and mantles, occasionally arranged in palisade, interspersed with moderate connective stroma. The neoplastic cells exhibited strong immunoreactivity to synaptophysin, mild, multifocal immunoreactivity to neuron-specific enolase and vimentin, with moderate, and multifocal immunoreactivity S-100 protein. These findings suggest that pPNETs should be included in the differential diagnosis of proliferative and obstructive lesions in the nasal cavity of young cattle.(AU)

Este relato descreve os sinais clínicos, achados patológicos e imuno-histoquímicos associados a um tumor neuroectodérmico primitivo periférico (pPNET) na cavidade nasal de uma novilha. A novilha apresentava dificuldade respiratória e de deglutição, com evolução de trinta dias. Na autópsia, no seio frontal esquerdo e ocupando quase toda a cavidade nasal esquerda foi observada uma grande massa firme e esbranquiçada. Histologicamente, observou-se proliferação neoplásica maligna composta de pequenas células dispostas em ninhos e manto, ocasionalmente em paliçada, intercaladas por estroma conjuntivo moderado. As células neoplásicas exibiram intensa imunomarcação para sinaptofisina, marcação leve e multifocal para enolase neurônio especifica e vimentina, com multifocal e moderada imunorreação para a proteína S-100. Esses achados sugerem que o pPNET deve ser incluído no diagnóstico diferencial de lesões proliferativas e obstrutivas na cavidade nasal de bovinos jovens.(AU)

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.

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.

Ewing's Sarcoma Family Tumors in the Jaws: Case Report, Immunohistochemical Analysis and Literature Review.

Due to the low incidence of the Ewing's Sarcoma (ES) family tumors, the available epidemiology is likely to be unreliable, and at present, there are no standard diagnostic or clinical guidelines outlining their management. This report describes a case of peripheral primitive neuroectodermal tumor (ES/pPNET) which initially mimicked cystic lesions, and describes a comparison between ES and ES/pPNET in the jaws by the World Health Organization classification. This review addressed 63 cases published in the English literature between 1950 and 2016. The majority of cases were ES. Both ES and ES/pPNET mimicked other benign entities such as traumatic, cystic and inflammatory lesions. The patients who died of their disease had a history of metastatic tumors, and primary tumor located in the mandible and maxilla for ES and ES/pPNET, respectively. The differentiation of the ES family tumors from other small blue-cell tumors may be difficult and requires familiarity with histological and immunohistochemical features.

Imaging findings of adrenal primitive neuroectodermal tumors: a series of seven cases.

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.

Sarcoma de Ewing congênito: relato de um caso / Congenital Ewing's sarcoma: a case report

O sarcoma congênito da família Ewing é uma doença extremamente rara, que se manifesta através do surgimento de uma massa e sinais sistêmicos como dor e febre. Cerca de 70 a 80% dos casos ocorrem antes dos 20 anos de idade. Histologicamente se caracteriza pela presença de pequenas células arredondadas e azuis. Além disso, pode se manifestar em tecidos moles ou osso e em qualquer parte do corpo, sendo a forma congênita mais comumente encontrada nas extremidades. O diagnóstico é estabelecido através de exames de imagem, histopatologia e imuno-histoquímica. Esses tumores costumam ser agressivos e apresentar elevada mortalidade. Aqui, relatamos o caso de um recém-nascido que apresentou uma massa no membro superior esquerdo diagnosticada como sarcoma congênito da família Ewing por biópsia cutânea por punch e pela presença do marcador CD99 (AU)

Congenital Ewing's sarcoma is an extremely rare disease, manifested by the appearance of a mass and systemic signs such as pain and fever. About 70-80% of cases occur before 20 years of age. This condition is histologically characterized by the presence of small round blue cells and can manifest in bone or soft tissue, anywhere in the body, with the congenital form being the most commonly found in the extremities. The diagnosis is established by imaging, histopathology, and immunohistochemistry. These tumors tend to be aggressive and have high mortality rates. Here, we report the case of a newborn who presented a mass in the left upper limb diagnosed as congenital Ewing's sarcoma by punch skin biopsy and the presence of the CD99 marker (AU)

Primary Intracranial Ewing's Sarcoma (Peripheral Primitive Neuroectodermal Tumour of Parietal Bone) with Spinal and Pelvic Metastasis in a Young Female Child: Rare Case Report and Review

Introduction The Peripheral Primitive Neuroectodermal Tumour (pPNET)/Ewing's sarcoma family tumor (ESFT) group is a recently redefined term which includes all small round cell tumors of bone, soft tissue, and nerve with a common neuroectodermal origin. These highly aggressive pediatric soft tissue tumors occur less frequently in the craniospinal axis. Primary cranial lesion associated with spinal and pelvic metastasis is a rare presentation. Clinical Presentation A 9-year old girl was hospitalized with features of progressive increase in intracranial pressure with quadriparesis. The patient had ⅘ quadriparesis with bilateral papilledema. Brain MRI showed a large, hetero intense, contrast enhancing right parietal bony lesion infiltrating the dura with mass effect over the brain. Brain CT showed bony expansion and multiple calvarial lytic lesions. MRI cervical spine revealed collapsed fourth cervical vertebral body with extensive paravertebral and paraspinal soft tissue components with cord compression. Metastatic workup revealed a lytic lesion in the left iliac bone and left lung. The patient underwent a surgically challenging C4 corpectomy with cage fixation followed by craniotomy and excision of parietal bony lesion with titanium mesh cranioplasty in the same sitting. Histopathology revealed pPNET and was confirmed by CD99 positivity. Conclusion This rare multiple site tumor presentation was carefully planned and effectively managed by a combined single-stage surgical approach involving total excision of primary parietal bone and metastatic cervical spine tumors with primary titanium mesh cranioplasty and cervical spine stabilization, followed with radiotherapy and chemotherapy, which resulted in good recovery and improved the overall prognosis for the patient.

Introdução O grupo 'tumor neuroectodérmico primitivo periférico (pPNET) / tumor da família dos sarcomas de Ewing (ESFT)' é um termo recentemente redefinido o qual inclui todos as pequenas arredondadas células de tumor ósseo, tecidos moles e nervos com origem neuroectodérmica comum. Estes tumores pediátricos de tecido mole altamente agressivos ocorrem com menor frequência no eixo cranioespinal. Lesões primárias do crânio associadas a metástase espinhal e pélvica são raras. Relato de Caso Criança de 9 anos de idade hospitalizada com fraturas e pressão intracraniana crescente com quadriparesia. A paciente teve ⅘ de quadriparesia com papiledema bilateral. RM do cérebro por contraste mostrou uma lesão óssea parietal direita extensa e hétero-intensa infiltrando a dura-máter com efeito maciço sobre o cérebro. TC do cérebro mostrou expansão óssea e múltiplas lesões líticas na calota craniana. RM da espinha cervical revelou colapso da quarta vertebra cervical com componentes paravertebral e paraespinal de tecido mole com compressão da medula. Workup metastático revelou uma lesão lítica no ilíaco esquerdo e pulmão esquerdo. A paciente foi submetida a difícil corpectomia da C4 com fixação de cage seguida de craniotomia e excisão da lesão parietal óssea com cranioplastia com malha de titânio na mesma posição. Histopatologia revelou pPNET, confirmada por positividade de CD99. Conclusão Este raro caso com apresentação de múltiplos tumores foi cuidadosamente planejado e eficazmente conduzido por acessos cirúrgicos combinados em fase única envolvendo excisão total do osso parietal primário e tumores metastáticos da espinhal cervical com cranioplastia com malha de titânio e estabilização da espinha cervical, seguida de radioterapia e quimioterapia, resultando em boa recuperação e melhora no prognóstico geral da paciente.

Tumor neuroectodérmico primitivo periférico extraesquelético/sarcoma de Ewing metastásico en un neonato / Metastatic primitive extraskeletal peripheral neurectodermal tumor/ewing sarcoma in a neonate / Tumor neuroectodérmico primitivo periférico extra esquelético/sarcoma de ewing apresentado em neonato

El tumor neuroectodérmico primitivo periférico/sarcoma de Ewing, descrito a comienzos del siglo XX, es un tumor muy maligno poco frecuente de gran mortalidad, cuya causa es la translocación t(11;22)(q24;q12) en células derivadas de la cuarta hojilla embrionaria o células de la cresta neural que, por su posibilidad de diferenciación en linajes mesenquimales craneocefálicos, fácilmente se convierte en metastásico. Se encuentra bajo la denominación de enfer- medades raras debido a su baja frecuencia de aparición. A nivel mundial se han referenciado, menos de 20 casos con afectación periférica extraósea congénita y este es el primero en reportarse en Colombia. En el presente caso se describe la lesión tumoral extraesquelética con metástasis a pulmón y a cerebro, en un neonato de sexo femenino, fruto de un embarazo único, prematuro, sin reporte de exposición a factores de riesgo medioam- bientales, que fue remitida con la lesión tumoral al segundo día de vida, por dificultad respiratoria grave progresiva a falla respiratoria. La bebé fue atendida en la unidad neonatal de la Fundación Cardioinfantil de Bogotá.

A female premature infant with no history of exposure, who on presented a peripheral primitive neuroectodermal tumor/extraosseous Ewing sarcoma with metastases to lungs and brain which rapidly invaded the airways. The knowledge of this exotic neoplasm could support the diagnosis and management of newborns with this rare tumor associated with respiratory failure and high mortality. This is the first newborn report of pPNET/Ewing sarcoma in South America, of which fewer than twenty cases have been published. Primitive neuroectodermal tumors or Ewing Sarcoma (PNET/ES) are an aggressive, rare and lethal tumor family of small blue cells with a varied histological morphology that affect the nervous system, skeleton, soft tissues, skin, or parenchymal organs. They are prevalent in the second decade of life, more frequent in whites, male/female 1.3-1.5:1, 85% are caused by nonrandom translocation t(11;22)(q24;q12) limited to the tumor, and therefore non-heritable, with chimeric EWS/FLI1 fusion and a positive CD99 immuno- phenotype. The reporting of this rare tumor associated with neonatal respiratory failure could facilitate its diag- nosis and early treatment.

O tumor neuroectodérmico primitivo periférico extra esquelético /Sarcoma de Ewing, descrito a inicios do século XX, é um tumor raro e maligno que apre-senta alto grau de mortalidade devido à translocação t(11;22)(q24;q12) em células derivadas da quarta hojilla embrionária ou crista neural que por possibilidade de diferenciação de linagens mesenquimales cráneocefá-lico, pode virar facilmente em metastasico.Trata-se de uma doença rara, debido à baixa frequência de aparição. Mundialmente tem se referenciado apro-ximadamente 15 eventos com afetação periférica extraóssea congênita e este é o primeiro caso reportado na Colômbia. No artigo se descreve a lesão tumoral extraesquelética com metastasis no pulmão e cérebro apresentado em neonato feminino produto de gravidez única pre-térmo sem reporte de exposição a fatores de risco medioambientais. O bebe foi remitido com lesão tumoral no segundo dia de ida, por ter apresentado difi-culdade respiratória progressiva grave e insuficiência ventilatória, foi atendida na unidade neonatal da Funda-cion Cardioinfantil (FCI-IC), na cidade de Bogotá.

From conventional fluid cytology to unusual histological diagnosis: report of four cases.

Malignant small round cell tumors represent a diagnostic challenge for cytologists and pathologists. This case series describes four cases of unusual metastasis of small round cell tumors subtypes into body cavities generating effusions in which fluid cytological examination suggested the neuroendocrine origin of the tumors. Tumor diagnosis (Ewing sarcoma/primitive neuroectodermal tumor and desmoplastic small round cell tumors) were unknown at the cytological evaluation. We can highlight the importance of the accurate analyses of body fluids, both for early diagnosis of metastatic disease, and for the diagnosis of primary tumor when serous effusion is the first manifestation of the neoplasia.

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...