Pelvic Ewing Sarcoma: The Great Mimicker / Sarcoma de Ewing pélvico: o grande imitador

Abstract Ewing sarcoma is the most common malignant bone tumor of the pelvis in children and young adults. Even with aggressive treatment, its survival rate is amongst the poorest. Classical presentation may not be the rule. It may simulate clinically, imagiologically and histopathologically other nonmalignant entities. Therefore, its suspicion should not be overlooked. We report two cases of pelvic Ewing sarcoma: the first mimicking eosinophilic granuloma, and the second mimicking osteomyelitis. In the latter, we also report an atypical finding of its natural history: an initial response to antibiotic and anti-inflammatory treatment. In both cases, we highlight the possibility of an inconclusive percutaneous bone biopsy and the importance of immunochemistry and cytogenetics for the definitive diagnosis.

Resumo O sarcoma de Ewing é o tumor ósseo maligno da pelve mais comum em crianças e adultos jovens. Mesmo com tratamento agressivo, sua taxa de sobrevivência está entre as piores. A apresentação clássica pode não ser a regra. Ele pode simular clinicamente, imaginologicamente e histopatologicamente outras entidades não malignas. Portanto, sua suspeita não deve ser negligenciada. Relatamos dois casos de sarcoma pélvico: o primeiro imitando granuloma eosinofílico e o segundo imitando osteomielite. Neste último, também relatamos um achado atípico de sua história natural: uma resposta inicial ao antibiótico e ao tratamento anti-inflamatório. Em ambos os casos, destacamos a possibilidade de uma biópsia óssea percutânea inconclusiva e a importância da imunoquímica e da citogenética para o diagnóstico definitivo.

Desafíos en el manejo del sarcoma de Ewing en una paciente testigo de Jehová / Challenges in the care of Ewing's sarcoma in a Jehovah's Witness patient

El sarcoma de Ewing es una neoplasia de hueso y tejidos blandos, cuyo manejo se relaciona con toxicidad hematológica. Este aspecto representa un desafío médico y ético en los pacientes testigos de Jehová quienes, por sus creencias religiosas, rechazan la aplicación de hemoderivados, con riesgo de que se descontinúe la quimioterapia o de que se utilicen dosis subóptimas. Se presenta el caso de una mujer colombiana de 34 años, testigo de Jehová, con diagnóstico de sarcoma de Ewing con estadificación clínica IIB (T1N0M0) en las regiones maxilar y mandibular izquierdas, tratada con quimioterapia, quien presentó un valor mínimo de hemoglobina de hasta 4,5 g/dl y tuvo indicación quirúrgica como parte del tratamiento. En estos pacientes, la decisión de practicar una transfusión comprende implicaciones éticas que requieren alternativas terapéuticas y un abordaje multidisciplinario.

Ewing's sarcoma is a bone and soft tissue neoplasm, whose management is related to hematological toxicity. This aspect represents a medical and ethical challenge in Jehovah's Witnesses patients, who, due to their religious beliefs, reject the blood component transfusion, with the risk of discontinuing chemotherapy or using suboptimal doses. We present the case of a 34-year-old Colombian woman, Jehovah's Witness, diagnosed with Ewing's sarcoma with clinical stage IIB (T1N0M0) in the left maxillary and mandibular regions, treated with chemotherapy, who presented a hemoglobin nadir of up to 4.5 g/dL, and surgical indication as part of the treatment. In these patients, the transfusion decision has ethical implications that require therapeutic alternatives and a multidisciplinary approach.

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.

Actualización en el uso del PET/CT en sarcoma de Ewing, a propósito de un caso

The use of positron emission tomography with computed tomography (PET/CT) for adult cancer patients is widespread, however, its use in pediatric patients is limited by fear of radiation, monetary cost and lack of awareness of its greater sensitivity in the evaluation of some types of tumors. Ewing's sarcoma is one of the primary pediatric malignancies in which PET/CT with 18F-labeled fluorodeoxyglucose (18F-FDG) has demonstrated greater sensitivity in the evaluation of bone metastases compared to scintigraphy, as well as in the evaluation of treatment response. We report a 13 years old female consulting for retrosternal pain. A chest CT scan showed an infiltrating mass originating in the sternum. A biopsy confirmed the presence of an Ewing sarcoma. The tumor was staged with PET/CT which showed multiple bone lesions not visible in previous studies.

Tumores óseos en edad pediátrica / Bone tumor in the pediatric age

RESUMEN Fundamento: los tumores óseos algunas veces son difíciles de diagnosticar, estos se dividen en benignos y malignos, los benignos son lo más frecuente y entre de ellos el osteocondroma es el principal. Los malignos a pesar de su baja frecuencia tienen importancia por su alta mortalidad, que varía entre 80 a 95 %, y las graves secuelas físicas y emocionales que acarrea su tratamiento en los pacientes. Los tipos de tumor óseo maligno más frecuente son el sarcoma de Ewing y el sarcoma osteogénico. Objetivo: profundizar los conocimientos de los tumores óseos en edad pediátrica. Métodos: la búsqueda de la información se realizó en un periodo de cinco meses (primero de agosto de 2017 al 31 de diciembre de 2017) y se emplearon las siguientes palabras claves: bone neoplasms y Childhood, a partir de la información obtenida se realizó una revisión bibliográfica de un total de 246 artículos publicados en las bases de datos PubMed, Hinari, Medline y SciELO y mediante el gestor de búsqueda y administrador de referencias EndNote, de ellos se utilizaron 50 citas seleccionadas para realizar la revisión, 40 de ellas de los últimos cinco años, donde se incluyeron dos libros. Resultados: se abordan formas de presentación clínica de los tumores óseos y los estudios de tipo imagenológicos, de laboratorio e histológicos. Se describen modalidades de tratamiento tanto conservador como quirúrgico. Conclusiones: los tumores óseos benignos en edad pediátrica son más frecuente y en ellos predomina los osteocondroma y entre los malignos el tumor de Ewing y el sarcoma osteogénico.

ABSTRACT Background: bone tumors are sometimes difficult to diagnose, they are divided into benign and malignant, benign tumors are the most frequent and among them the Osteochondroma is the main one. The malignant ones in spite of their low frequency are important for their high mortality, which varies between 80 to 95%, and the serious physical and emotional consequences that their treatment brings to patients. The most common malignant bone tumor types are Ewing's sarcoma and osteogenic sarcoma. Objective: to deepen the knowledge of bone tumors in pediatric age. Methods: the search of the information was made in a period of five months (from August 1st, 2017 to December 31st, 2017) and the following key words were used: bone neoplasms and Childhood, from the information obtained a bibliographical review of a total of 246 articles published in PubMed, Hinari, Medline, and SciELO databases was made through the EndNote search manager and reference manager, of which 50 selected citations were used to perform the review, 40 of them from the last five years, where two books were included. Results: forms of clinical presentation of bone tumors and imaging, laboratory and histological studies are addressed. Both conservative and surgical treatment modalities are described. Conclusions: benign osseous tumors in the pediatric age are more frequent and osteochondroma predominates in them and malignant tumors include Ewing tumor and osteogenic sarcoma.

Survival outcome among patients with Ewing's sarcoma of bones and joints: a population-based cohort study

ABSTRACT BACKGROUND: The aim here was to elucidate the current survival condition of patients diagnosed with Ewing's sarcoma of the bones and joints and determine independent risk factors associated with the prognosis. DESIGN AND SETTING: Retrospective cohort study based on the Surveillance, Epidemiology and End Results (SEER) database in the United States. METHODS: We identified 397 patients who were diagnosed with Ewing's sarcoma of the bones and joints between January 2004 and December 2013. The multivariate Cox proportional hazards model was used to determine factors associated with the risk of death by adjusting for various factors. RESULTS: The one, two and five-year disease-specific survival rates were 89.08%, 78.08% and 62.47%, respectively. The factors related to death were age (≥ 18 years versus < 18 years; hazard ratio, HR = 1.77; 95% confidence interval, CI: 1.38-2.31); tumor site (extremity versus spine and pelvis; HR = 2.03; 95% CI: 1.31-2.62); tumor size (> 10 cm versus ≤ 10 cm; HR = 1.78; 95% CI: 1.34-2.56); and type of treatment (surgery alone versus radiotherapy with surgery; HR = 0.51; 95% CI: 0.38-0.89; or radiotherapy alone versus radiotherapy with surgery; HR = 1.61; 95% CI: 1.10-2.39; or no treatment versus radiotherapy with surgery; HR = 1.86; 95% CI: 1.23, 2.58). CONCLUSIONS: Patients with Ewing's sarcoma showed poor survival in situations of age ≥ 18 years, tumor size > 10 cm, receiving radiotherapy alone and receiving no treatment. Patients undergoing surgery alone had better survival.

A Case of Long-term Survival in a Patient with Primary Primitive Neuroectodermal Tumor of the Lung / 고신대학교의과대학학술지

Primitive neuroectodermal tumor (PNET) arising primarily in the lung is an extremely rare and aggressive malignancy with poor chances of patient survival. We present a case of long-term survival by a 29-year-old woman with PNET diagnosed after a hertological and immunohertochemical examination of a biopsy specimen obtained by performing video-assisted thoracic surgery. The patient underwent a left lower lung lobe lobectomy and 6 cycles of adjuvant chemotherapy. The patient has been free of any symptoms of the recurrence of the disease for 6 years after treatment completion.

Total Claviculectomy as Treatment of Clavicular Ewing's Sarcoma: a Case Report and Literature Review / 中华骨科杂志

Objective To analyze the efficacy of total claviculectomy in the treatment of Ewing's sarcoma and to discuss the impact of clavicular reconstruction on the outcome.Methods The clinical records of a 13-year-old male patient with left clavicular Ewing's sarcoma were reviewed.The subject received 2 cycles (at an interval of 2 weeks) of neoadjuvant chemotherapy comprising cisplatin 120 mg/m2 (1 d),adriomycin 30 mg/m2 (3 d),and ifosfamide 2.0 g/m2 (5 d).Total claviculectomy was carried out without clavicular reconstruction and the patient underwent 9 cycles of subsequent chemotherapy.The appearance and function of the operated limb,radiological examinations of the surgical site,ECT bone scans and pulmonary CT were followed up.The literatures regarding the total and subtotal excision of the clavicle were reviewed to investigate the importance of clavicular reconstruction.Results After 23-months of follow-up,the patient was subjectively free of limb function compromise.Physical examinations indicated drooping of the operated shoulder by 2 cm,whereas the appearance was similar between both shoulders.Functionality of the operated limb was recovered.The motion of the left shoulder:abduction 90°,adduction 40°,anterior flexion 90°,extension 45°,internal rotation 80°,external rotation 60°,and no restriction of limb elevation.Manual muscle strength tests showed V/V muscle strength of the operated limb.American Shoulder and Elbow Surgeons' form (ASES) and Musculoskeletal Tumor Society (MSTS) score were 96 and 30,respectively.Postoperative X-ray films demonstrated mild thoracic scoliosis.The patient did not appear recurrence and metastasis.Conclusion Total claviculectomy is efficacious for treating clavicular Ewing's sarcoma.Clavicular reconstruction may not be imperative for treatment of clavicular malignancy because of the increased technical difficulty and great risk of complications.

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.

Incidencia de tumores óseos malignos en niños: estudio de cinco años / Malignant incidence of osseous tumors in children: a five-year study

Fundamento: los tumores óseos malignos en el niño son bastante raros. Comparado con el resto de los tumores infantiles ocupa solo un 3 a 4 %. A pesar de su baja frecuencia tienen importancia por su alta mortalidad, que varía entre 80 a 95 %, y las graves secuelas físicas y emocionales que acarrea su tratamiento en los pacientes. Los tipos de tumor óseo maligno más frecuente a esta edad son el sarcoma de Ewing y el Sarcoma osteogénico. Objetivo: determinar cuáles son los tumores óseas malignos más frecuentes con un estudio de cinco años de los casos ingresados en el Hospital Pediátrico Universitario Eduardo Agramonte Piña de Camagüey en menores de 19 años. Métodos: se realizó un estudio observacional, descriptivo, longitudinal y retrospectivo a través de la revisión del archivo de anatomía patología del Hospital Pediátrico Universitario Eduardo Agramonte Piña de Camagüey. Se estudiaron todos los casos con diagnóstico histopatológico de tumor óseo maligno desde el 1ro de enero 2012 a 31 de diciembre de 2016, con edades inferiores a los 19 años. La fuente de información fue el libro de registro de biopsias del departamento de Anatomía Patológica, los datos obtenidos se compilaron en un formulario elaborado para los mismos. El análisis estadístico se realizó con el paquete estándar profesional S.P.S.S versión 21 2012. Los resultados se presentaron en tablas. Resultados: los tumores óseos malignos de mayor incidencia fueron el sarcoma de Ewing y el Sarcoma osteogénico. El grupo de edad más frecuente de tumores óseos fue entre 10 a 14 años. Conclusiones: el resultado del estudio es comparable con lo reportado en la bibliografía médica donde los tumores óseos malignos, el sarcoma de Ewing y el sarcoma osteogénico son los másfrecuentes.

Background: malignant bone tumors in children are quite rare. When compared to the rest of the childhood tumors it occupies only 3 to 4%. Despite their low frequency, they are important because of their high mortality, ranging from 80 to 95%, and the serious physical and emotional sequelae that their treatment entails in patients. The most frequent types of malignant bone tumor at that age are Ewing's sarcoma and osteogenic sarcoma. Objective: to determine the most frequent malignant bone tumors with a five-year study of the cases admitted to the Eduardo Agramonte Piña University Pediatric Hospital in Camagüey under the age of 19 years. Methods: an observational, descriptive, longitudinal and retrospective study was carried out through a review of the anatomy pathology file of the Eduardo Agramonte Piña University Pediatric Hospital in Camagüey. We studied all cases with histopathological diagnosis of malignant bone tumor from January 1, 2012 to December 31, 2016, with ages below 19 years. The source of information was the biopsy record book of the Department of Pathology. The data obtained were compiled in a form prepared for them. Statistical analysis was performed using the standard professional package S.P.S.S version 21 2012. The results were presented in tables. Results: Ewing’s sarcoma and osteogenic sarcoma were the most frequent malignant tumors. The most frequent age group of bone tumors was between 10 and 14 years. Conclusions: the results of the study are comparable to those reported in the medical literature where malignant bone tumors, Ewing's sarcoma and osteogenic sarcoma are the most common.

Diagnostic performance of magnetic resonance imaging in the assessment of periosteal reactions in bone sarcomas using conventional radiography as the reference / Desempenho diagnóstico da ressonância magnética na avaliação de reações periosteais em sarcomas ósseos utilizando a radiografia convencional como padrão de referência

Abstract Objective: To evaluate the performance of magnetic resonance imaging (MRI) in detecting periosteal reactions and to compare MRI and conventional radiography (CR) in terms of the classification of periosteal reactions. Materials and Methods: Retrospective study of 42 consecutive patients (mean age, 22 years; 20 men) with a confirmed diagnosis of osteosarcoma or Ewing's sarcoma, MRI and CR images having been acquired pretreatment. Three blinded radiologists detected periosteal reactions and evaluated each periosteal reaction subtype in CR and MRI images: Codman's triangle; laminated; and spiculated. The CR was used as a benchmark to calculate the diagnostic performance. We used the kappa coefficient to assess interobserver reproducibility. A two-tailed Fisher's exact test was used in order to assess contingency between CR and MRI classifications. Results: In the detection of periosteal reactions, MRI showed high specificity, a high negative predictive value, and low-to-moderate sensitivity. For CR and for MRI, the interobserver agreement for periosteal reaction was almost perfect, whereas, for the classification of different subtypes of periosteal reaction, it was higher for the Codman's triangle subtype and lower for the spiculated subtype. There was no significant difference between MRI and CR in terms of the classifications (p < 0.05). Conclusion: We found no difference between MRI and CR in terms of their ability to classify periosteal reactions. MRI showed high specificity and almost perfect interobserver agreement for the detection of periosteal reactions. The interobserver agreement was variable for the different subtypes of periosteal reaction.

Resumo Objetivo: Avaliar o desempenho da ressonância magnética (RM) na detecção de reação periosteal e comparar a classificação de presença ou ausência de reações periosteais entre a RM e a radiografia convencional (RC). Materiais e Métodos: Estudo retrospectivo incluindo 42 pacientes consecutivos (idade média, 22 anos; 20 homens) com diagnóstico confirmado de osteossarcoma ou sarcoma de Ewing, tendo exames de RM e RC adquiridos pré-tratamento. Três radiologistas avaliaram às cegas a presença ou ausência de reação periosteal e de cada subtipo de reação periosteal nas imagens de RC e RM: triângulo de Codman, multilamelada e espiculada. A RC foi usada como padrão de referência para cálculo do desempenho diagnóstico. Foi utilizado o coeficiente kappa para reprodutibilidade interobservador. Adicionalmente, foi realizado teste exato de Fisher bicaudal para avaliar se houve diferença significativa entre as leituras da RC e RM. Resultados: A RM mostrou alta especificidade, alto valor preditivo negativo e baixa sensibilidade na detecção de reação periosteal. A concordância interobservador para a reação periosteal foi quase perfeita para a RC e RM. A concordância interobservador para a classificação dos diferentes subtipos de reação periosteal foi maior para o subtipo triângulo de Codman e menor para o subtipo espiculada. Não houve diferença na detecção por RM e RC (p < 0,05). Conclusão: Não houve diferença significativa entre as classificações da presença ou ausência de reações periosteais entre os métodos RC e RM. A RM apresentou alta especificidade e concordância interobservador quase perfeita para a detecção de reação periosteal. A concordância interobservador para os diferentes subtipos de reação periosteal foi variável.

Renal Ewing's sarcoma/primitive neuroectodermal tumor: a case report and literature review / 北京大学学报(医学版)

Ewing's sarcoma/primitive neuroectodermal tumor (EWS/PNET) in the kidney is a rare but high-grade malignant tumor that affects predominantly elder children and adolescents.Patients mostly present with nonspecific symptoms such as abdominal pain and gross hematuria.Since EWS/PNET has a rapid clinical progression with early metastasis and death,it is essential to make an accurate and early diagnosis.Once diagnosed,multimodality treatment,including radical surgery combined with adjuvant chemotherapy,and radiotherapy if necessary,is recommended.Unfortunately,there are no characteristic signsthat have been described in ultrasonography or any other imaging modalities so far.The diagnosis of EWS/PNET is now based on a classical histological and immunohistochemical investigation complemented by a demonstration of specific chromosomal changes.Strong immunoreactivity to CD99 is ubiquitous,and t(11;22) translocation is seen in approximately 90％ of EWS/PNET.Herein,we report a patient with such condition.The patient was a young woman,and she presented with sudden right flank pain clinically.Ultrasonography revealed a large heterogeneous mass in the lower pole of her right kidney.The tumor compressed the renal pelvis and led to upper pole caliectasis.Color Doppler demonstrated blood flow with a pulsatile arterialized waveform within the mass.The patient received radical nephrectomy with right renal vein and vena cava thrombectomy.A search for other sites of tumor involvement yielded negative results.And six cycles of chemotherapy were sequentially performed.The diagnosis of EWS/PNET was confirmed based on primitive small round cell histology and characteristic immunohistochemical results.She was still alive with no evidence of recurrence five years after initial diagnosis.We would like to point out that ultrasound is still a useful method for initial assessment,and ultrasound-guided fine needle aspiration may play an important role in determining preoperative diagnosis.

Sarcoma de Ewing en huesos cortos. Presentación de un caso / Ewing’s Sarcoma of Short Bones. A Case Report

El sarcoma de Ewing es una neoplasia maligna que afecta fundamentalmente a niños y adolescentes. Cerca del 95 % de estos sarcomas ocurre entre los 5-25 años. Es más frecuente en el sexo masculino y muy raro en la raza negra. Tiene predilección por las diáfisis de los huesos largos, las costillas y los huesos planos, como la escápula y la pelvis. Se presenta a una paciente de 37 años de edad con lesión tumoral en la mano la izquierda. Como tratamiento de primera línea se le realizó amputación del primer y segundo dedos de la mano. La biopsia informó sarcoma de Ewing. Posteriormente la paciente fue sometida a esquema de quimioterapia. Se considera de interés la presentación de este caso por la localización poco usual de la neoplasia.

Ewing’s sarcoma is a malignant tumor that primarily affects children and adolescents. Nearly 95% of these sarcomas occur between the ages of 5 to 25 years. It is more common in males and extremely rare among blacks. It presents most often in the diaphyses of long bones, the ribs and flat bones, such as the scapula and pelvis. We present the case of a 37 year-old woman with a tumor in the left hand. The amputation of the first and second fingers was performed as first-line treatment. The biopsy revealed a Ewing’s sarcoma. Subsequently, the patient underwent chemotherapy regimen. This case is of interest given the unusual location of the tumor.

Receptor tyrosine kinases in osteosarcoma and Ewing sarcoma / 国际肿瘤学杂志

Osteosarcoma and ewing sarcoma are the two most common types of primary malignant bone tumors. Receptor tyrosine kinases(RTKs),including varieties of cell growth factors and proto-oncogene pro-ducts,are the high-affinity cell surface receptors which play an important role in the normal physiological func-tion of cells. A large number of studies have demonstrated that the abnormal RTKs signaling pathways may pro-mote the tumorigenesis and development of osteosarcoma and ewing sarcoma by affecting tumor cell survival, proliferation,invasion and metastasis. Targeting treatment of RTKs is a promising therapeutic approach for osteosarcoma and ewing sarcoma.

Sarcoma de Ewing de escápula: Presentación de casoc / Ewing Sarcoma: Case Report

El sarcoma de Ewing representa el segundo tumor primario de hueso más común en niños y adolescentes (3 % de todos los tumores óseos pediátricos), solo excedido en prevalencia por el osteosarcoma. Respecto al sitio de compromiso, el sarcoma de Ewing afecta la pelvis, las extremidades y las costillas en el 86 % de los casos, seguido por la escápula (de 4 a 5 %). Este artículo presenta un caso de sarcoma de Ewing en la escápula; se describen sus características clínicas e imaginológicas, así como su tratamiento.

Ewing´s sarcoma is the second most common primary bone tumor in children and adolescents (3% of all pediatric bone tumors), its prevalence is only exceeded by osteosarcoma. Regarding the site of involvement, Ewing's sarcoma involves pelvis, limbs and the ribs in 86% of cases, followed by the scapula (4-5%). This article presents a case of Ewing's sarcoma in the scapula; clinical and imaging characteristics are described, as well as treatment.

IDH Mutation Analysis in Ewing Sarcoma Family Tumors

BACKGROUND: Isocitrate dehydrogenase (IDH) catalyzes the oxidative decarboxylation of isocitrate to yield alpha-ketoglutarate (alpha-KG) with production of reduced nicotinamide adenine dinucleotide (NADH). Dysfunctional IDH leads to reduced production of alpha-KG and NADH and increased production of 2-hydroxyglutarate, an oncometabolite. This results in increased oxidative damage and stabilization of hypoxia-inducible factor alpha, causing cells to be prone to tumorigenesis. METHODS: This study investigated IDH mutations in 61 Ewing sarcoma family tumors (ESFTs), using a pentose nucleic acid clamping method and direct sequencing. RESULTS: We identified four cases of ESFTs harboring IDH mutations. The number of IDH1 and IDH2 mutations was equal and the subtype of IDH mutations was variable. Clinicopathologic analysis according to IDH mutation status did not reveal significant results. CONCLUSIONS: This study is the first to report IDH mutations in ESFTs. The results indicate that ESFTs can harbor IDH mutations in previously known hot-spot regions, although their incidence is rare. Further validation with a larger case-based study would establish more reliable and significant data on prevalence rate and the biological significance of IDH mutations in ESFTs.

Sarcoma de Ewing / Ewing´s sarcoma

Fundamento: el sarcoma de Ewing es una neoplasia altamente maligna que afecta fundamentalmente a niños y adolescentes. Cerca del 95 % de estos sarcomas ocurren entre los 5-25 años, es frecuente en el sexo masculino y muy raro en la raza negra. Objetivo: actualizar y sistematizar los conocimientos sobre el sarcoma de Ewing de mayor utilidad para en el desempeño clínico-quirúrgico. Método: se realizó una revisión de la literatura de los últimos cinco años. Se insistió en la epidemiología, histopatología, diagnóstico y tratamiento. Desarrollo: el sarcoma de Ewing presenta una incidencia anual de 2, 73 casos por cada millón de habitantes. Predomina en las diáfisis y metáfisis, los huesos largos de las extremidades y huesos planos. Clínicamente puede presentarse como un cuadro pseudoinflamatorio caracterizado por dolor con exacerbación nocturna y una masa dolorosa asociados fiebre, malestar general y pérdida de peso; las que semejan una osteomielitis. El diagnóstico requiere técnicas de inmunohistoquímica y estudios moleculares. El tratamiento ha pasado por una serie de modalidades: cirugía, cirugía y radioterapia, radioterapia y quimioterapia y quimioterapia, para retomar en la actualidad la asociación de la cirugía con la quimioterapia y eventualmente la radioterapia. Conclusiones: la heterogeneidad histológica, favorece la diversidad de formas clínicas de presentación y hacen complejo su diagnóstico. La estrecha similitud con otras enfermedades, hacen del sarcoma de Ewing uno de los tumores de más difícil tratamiento, por lo que la detección temprana, la cirugía de resección seguida de la quimioterapia aseguran los mejores resultados.

Background: Ewing´s sarcoma is a highly malignant neoplasia that mainly affects children and adolescents. Around 95 % of these sarcomas appear between 5-25 years of age, are frequent in male sex and very infrequent in black people. Objective: to systematize and bring up to date the most useful information about the Ewing´s sarcoma for the clinical-surgical performance. Method: a review of the literature from the last five years was conducted, making emphasis on epidemiology, histopathology, diagnosis, and treatment. Development: Ewing´s sarcoma presents an incidence of 2.73 cases per million per year in the general population. From the clinical point of view the symptoms can include pseudo-inflammatory problems characterized by a painful mass and pain with nighttime aggravations, along with fever, discomfort, and weight loss; these manifestations resemble an osteomyelitis. The diagnosis requires the application of immunohistochemistry techniques and molecular studies. The treatment has passed through a series of modalities: surgery, surgery and radiotherapy, radiotherapy and chemotherapy; nowadays, the surgery-chemotherapy association and eventually, the radiotherapy have been taken up again. Conclusions: histological heterogeneity favors the diversity of clinical ways of presentation and makes more complex its diagnosis. The close similarity to other diseases make of the Ewing´s sarcoma one of the tumors of most difficult treatment; that is why the early detection and the removal surgery fallowed by chemotherapy guarantee the best results.

Imaging features of Ewing sarcoma and primitive neuroectodermal tumor in sacrum / 中华放射学杂志

Objective To investigate the imaging features of Ewing's sarcoma and primitive neuroectodermal tumor (ES and PNET) in sacrum.Methods Imaging data were retrospectively collected and reviewed in 17 patients with ES and PNET confirmed by pathology.X-ray was performed in all patients,CT scans in 13 patients,and MR scans in 10 patients.Results All lesions were detected solitary and lateral.X-ray and CT features were lytic bone destruction in 12 cases,2 of them with bone sclerosis; one patient showed diffuse sclerosis.Soft tissue mass in pelvic cavity can be seen in 11 cases,9 of them with adjacent large blood vessels invasive and 4 patients with sacroiliac joints invasive.On post-contrast images,mild enhancement was found in 8 cases,and 5 patients with marked enhancement.MR images showed intermediate signal intensity on T1WI in 8 cases and heterogeneous moderate to high signal intensity on T2WI/fat suppression in 10 cases.DWI showed high signal intensity in 4 cases.Unlike CT scan,contrastenhanced MR images showed significant enhancement in 7 cases.Conclusions Ewing's sarcoma and primitive neuroectodermal tumor (ES and PNET) in sacrum have some specific imaging features.Imaging examination could provide reliable evidence for clinical diagnosis.

Sarcoma de Ewing costal / Costal Ewing Sarcoma

The Sarcomas Ewing/PNET is highly aggressive and both tumors present/display he himself phantom of genetic anomalies reason for which the term of “Tumors of the family of sarcoma of Ewing is used (TFSE)” that includes to a group of tumors with a phantom of neuroectodermic differentiation. Case of feminine adolescent of eleven years, that referred sharp pain, in hemitorax appears left, in Rx of the thorax heterogenous dense image of diffuse edges projected on third basal means in left pulmonary field received antibiotics, remained asymptomatic up to eight months later when chest pain reappeared, made Rx of the thorax where demonstrate at level of the eighth costal arc bony erosion, in addition to the image previously described to greater size. Normal physical examinations. normal examinations of laboratory, computerized axial Tomography of the chest demonstrate bony erosion, and commitment of the local pleura biopsy of the injury reported: “Malignant Tumor of round cells, extensive necrosis”. Bony scintygraphy indicated osteoblastic activity altered in D8, suggestive of secondary bony infiltration. Made resection of tumor like injury in chest wall with reconstruction, positioning of prosthesis and central catheter biopsy of bony Marrow: refusal. The morphologic and inmunohistochemical findings with positivity for compatible FLy and CD99 with tumor of the family of sarcoma of Ewing/primtive neuroectodermic tumor. At the moment in treatment programmed with standard chemotherapy every 21 days X-ray in week 12.

Los Sarcomas Ewing/PNET son altamente agresivos y ambos tumores presentan el mismo espectro de anomalías genéticas razón por la que se usa el término de “Tumores de la familia del sarcoma de Ewing (TFSE)” que abarca a un grupo de tumores con un espectro de diferenciación neuroectodérmica. Se presenta caso de adolescente femenina de once años, quien refirió dolor punzante, en hemitorax izquierdo, en Rx del tórax imagen densa heterogénea de bordes difusos proyectada sobre tercio medio basal en campo pulmonar izquierdo. Recibió antibióticos, permaneció asintomática hasta ocho meses después cuando reapareció dolor torácico, y en Rx del tórax se evidencio a nivel del octavo arco costal erosión ósea, además de la imagen anteriormente descrita de mayor tamaño. Examen físico y de laboratorios fueron normales, en Tomografía axial computarizada del tórax se evidencio erosión ósea, y compromiso de la pleura local. Biopsia de la lesión reportó: “Tumor maligno de células redondas, extensa necrosis”. Gammagrama Óseo señaló actividad osteoblástica alterada en D8 sugestivo de infiltración ósea secundaria. Se realizó resección de lesión tumoral, reconstrucción, colocación de prótesis, catéter central biopsia de Médula ósea: negativa. Los hallazgos morfológicos e inmunohistoquímicos con positividad para FLy y CD99 compatible con tumor de la familia del sarcoma de Ewing/tumor neuroectodérmico primitivo. Actualmente en tratamiento programado con quimioterapia estándar cada 21 días Radioterapia en la semana 12.