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.

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

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

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

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

Correlation NKX2.2 IHC and EWSR1 break-apart FISH in the diagnosis of Ewing sarcoma: Can combined NKX2.2 and CD99 immunoexpression obviate or minimize the need of FISH testing? First assessment study from Indian tertiary cancer care center

Context: Ewing sarcoma (ES) are malignant small round cell tumors (MSRCT) characterized by rearrangements of EWSR1 gene. Although gold standard for diagnosis is detection of specific fusion genes by molecular testing, these ancillary tests are costly and only available in limited number of settings. There is a persuasive evidence for reliability of NKX2.2 immunohistochemistry (IHC) as a surrogate marker for EWSR1 gene rearrangement in ES. Aims: The aim of this study is to correlate the NKX2.2 immuno-expression with genetically confirmed ES cases and also to assess the reliability and accuracy of NKX2.2 along with combined positivity of NXX2.2 and CD99 in diagnosing ES and differentiating it from other relevant histological mimics. Settings and Design: The present study is a retrospective study conducted over a period of 6-year duration in a tertiary cancer care center. Methods and Material: We evaluated NKX2.2 immunoexpression in 35 genetically confirmed cases of ES and also in pertaining differential entities (n = 58) of ES including rhabdomyosarcoma (n = 20), lymphoblastic lymphoma (n = 14), Wilms tumor (n = 10), poorly differentiated synovial sarcoma (n = 4), small-cell osteosarcoma (n = 4), neuroblastoma (n = 5), and mesenchymal chondrosarcoma (n = 1). CD99 was performed in the category of MSRCTs showing NKX2.2 positivity to evaluate combined specificity for the diagnosis of ES. Results: Of the 35 genetically confirmed cases of ES, 29 cases (83%) showed NKX2.2-positive expression (83% sensitivity). Compared to ES, NKX2.2 was positive in only 05% cases (3/58 cases) of non-ES MSRCT. Only two of five cases of neuroblastomas and one case of mesenchymal chondrosarcoma showed NKX2.2 positivity. CD99 positivity was seen in 100% of ES and in the single case of mesenchymal chondrosarcoma. All five cases (100%) of neuroblastoma were negative for CD99. Conclusions: The presented study, which is the first from an Indian oncology center, showed NKX2.2 IHC is quite reliable in diagnosis of ES in the right clinicopathological context. With remarkable sensitivity and specificity of NKX2.2 IHC for diagnosis of ES, we propose that combined positivity of CD99 and NKX2.2 IHC can obviate or minimize the need of EWSR1 gene rearrangement molecular testing for diagnosis of ES.

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.

Clinical and imaging features of eight cases of Ewing sarcoma of the jaw / 华西口腔医学杂志

OBJECTIVES@#This study investigate the clinical and imaging features of Ewing sarcoma (ES) of the jaw.@*METHODS@#Eight cases of pathologically diagnosed ES of the jaw from January 2010 to June 2022 were included in the study. Clinical and radiological features were retrospectively analyzed.@*RESULTS@#Among the eight cases, the mean age at onset was 29.4 years, and the male to female ratio was 7∶1. The predilecting site was the posterior part of mandible, accounting for 75% of the cases. The lesions often exhibited early numbness of the lower lip and lymphadenopathy. The main radiographic manifestation of mandibular lesions was ill-defined radiolucency, mixed with fibrous or brush-like tumor matrix, and soft tissue mass. The maxillary ES lesions mainly presented as lytic bone destruction accompanied by adjacent soft tissue mass. Periosteal ossification was rarely seen.@*CONCLUSIONS@#The clinical and imaging characteristics of ES in the jaw are helpful for its diagnosis.

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.

Primary renal ewing sarcoma in a 15-year-old female: Case report

@#Extraskeletal Ewing sarcoma (EES) is a rare tumor that primarily affects children and lacks specific clinical signs. Diagnosis is confirmed through imaging techniques, histology, and molecular diagnostics. Treatment typically involves surgical intervention and chemotherapy. We present the case of a 15-year-old female with a history of abnormal mass enlargement in the right flank area. An initial diagnosis of Wilms tumor was made, and the patient underwent a right open radical nephrectomy. However, the tumor recurred eight months after nephrectomy, necessitating a metastasectomy. Chemotherapy was started to immediately target the tumor recurrence. Next-generation sequencing done on the open radical nephrectomy and metastasectomy samples revealed the presence of the EWSR1-FLI1 fusion gene in both specimens, confirming the final diagnosis to be primary renal Ewing sarcoma. Despite undergoing a right open radical nephrectomy for the primary tumor site, a metastasectomy during tumor recurrence, and chemotherapy, the patient’s prognosis remained poor.

Ewing sarcoma: A rare report from the Indian pediatric population

Ewing抯 sarcomas are rare, aggressive tumors with a tendency toward recurrence following resection, and early metastasis. Although patients of younger or older age account for almost 30% of instances, peak incidences occur between the ages of 10 and 20. We, hereby, report the case of a 10-year-old girl who presented with a 3-month history of pain in her right hip that was unable to be relieved by non-steroidal anti-inflammatory medicine and physical therapy. On examination, bone mar

Sarcoma de Ewing mesencefálico: reporte de caso / Mesencephalic Ewing sarcoma: Case report

El sarcoma de Ewing es una neoplasia de origen más frecuentemente óseo; otras localizaciones son excepcionales. En el caso de las presentaciones primarias intracraneales, resulta imprescindible descartar que se trate de un secundarismo así como también de otros tumores neuroectodérmicos que puedan requerir distintos abordajes diagnósticos y terapéuticos. Se presenta a una paciente de 14 años que consultó por ptosis palpebral de ojo izquierdo asociado a diplopía de 2 meses de evolución; los estudios por imágenes mostraron una lesión tumoral extraaxial situada a nivel de la cisterna interpeduncular. Se realizó la exéresis completa, con diagnóstico anatomopatológico de sarcoma de Ewing de ubicación mesencefálica

Ewing's sarcoma is a malignant neoplasm mainly occurring in the bone, with other locations being exceptional. In the case of primary intracranial presentations, it is essential to rule out metastatic lesions as well as other neuroectodermal tumors that may require different diagnostic and therapeutic approaches. We present a 14-year-old patient who consulted for upper eyelid ptosis of left eye associated with a 2-month history of diplopia, with imaging evidence of extra-axial tumor lesion, located at the level of the interpeduncular cistern. Complete excision was performed, with a pathological diagnosis of Ewing's sarcoma of midbrain location.

Sarcoma de Ewing extraesquelético en cavidad nasal y senos paranasales, reporte de caso / Extra-skeletal Ewing sarcoma in the nasal cavity and paranasal sinus, case report

El sarcoma de ewing es un tumor maligno de rápido crecimiento, con prevalencia de 1-5 casos por cada 1.000.000 habitantes, su forma extraesquelética en la cavidad sinonasal o senos paranasales es inusual. Objetivo: describir la localización atípica de esta neoplasia y la importancia de lograr un diagnóstico oportuno. Paciente femenina, con una masa en la cavidad nasal derecha de dos meses de evolución, cefalea y epistaxis. Con asimetría en región orbitaria derecha y deformidad del tabique nasal, senos paranasales con sintomas de obstrucción. La tomografía reveló una masa que invade senos paranasales. La biopsia mostró un sarcoma de Ewing. Se confirmó con CD99. La paciente recibió quimioterapia y plan de resección quirúrgica, pero falleció. El diagnóstico y tratamiento oportuno del sarcoma de ewing en cavidad sinonasal debe apoyarse con examenes tomográficos, histopatológicos, inmunohistoquímicos y de ser posible citogenéticos para llegar al diagnóstico definitivo en etapas tempranas del tumor

Ewing's sarcoma is a rapidly growing malignant tumor, with a prevalence of 1-5 cases per 1,000,000 inhabitants, its extraskeletal shape in the sinonasal cavity or paranasal sinuses is unusual. Objective: to describe the atypical location of this neoplasm and the importance of achieving a timely diagnosis. Female patient, with a mass in the right nasal cavity of two months of evolution, headache and epistaxis. With asymmetry in the right orbital region and deformity of the nasal septum, paranasal sinuses with symptoms of obstruction. Tomography revealed a mass that invades the paranasal sinuses. The biopsy showed Ewing's sarcoma. It was confirmed with CD99. The patient received chemotherapy and a surgical resection plan, however she died. The timely diagnosis and treatment of Ewing's sarcoma in the sinonasal cavity should not be based solely on clinical evaluation, it requires a tomographic, histopathological, immunohistochemical and, if possible, cytogenetic examination to reach a definitive diagnosis in the early stages of the tumor.

Fractura, más allá del trauma / Fracture, beyond trauma

Se expone el caso de un paciente de 19 años, sin antecedentes médicos, con historia de traumatismo en el muslo derecho, que tuvo acortamiento, edema, rotación del miembro inferior derecho y dolor. En la radiografía se identificó una fractura en el tercio proximal de fragmentos múltiples de la diáfisis con engrosamiento y reacción perióstica que generaron una sospecha de un tumor óseo. La resonancia magnética confirmó una neoplasia ósea de características malignas en el tercio superior del fémur con destrucción de la cortical e invasión del canal endomedular sin signos de lesiones metastásicas. La biopsia confirmó el diagnóstico de sarcoma de Ewing localizado. El manejo intrahospitalario consistió en antiinflamatorios e inmovilización del miembro inferior derecho por 21 días. Luego, recibió tres ciclos de quimioterapia con el esquema para sarcoma de Ewing fase I. Además, se indicó terapia física, tratamiento ambulatorio con analgésico, radioterapia y finalmente se practicará la resección parcial de cadera. Se evidenció disminución del edema local, control del dolor con medicamentos orales y recuperación de la movilidad, aunque mantuvo la limitación funcional del miembro inferior derecho que imposibilita la bipedestación y la deambulación

A 19-year-old patient, with no previous medical history, with a history of trauma to the right thigh, presented with shortening, edema, rotation of the right lower limb and pain. Radiography identified a fracture in the proximal third of multiple fragments of the diaphysis with thickening and periosteal reaction that generated a suspicion of a bone tumor. MRI confirmed a bone neoplasm of malignant characteristics in the upper third of the femur with destruction of the cortex and invasion of the end medullary canal without signs of metastatic lesions. The biopsy confirmed the diagnosis of localized Ewing's sarcoma. The intrahospital management consisted of anti-inflammatory drugs and immobilization of the right lower limb for 21 days. Then, she received three cycles of chemotherapy with the Ewing sarcoma phase 1 scheme. In addition, physical therapy, outpatient treatment with analgesic, radiotherapy and finally partial hip resection was indicated. There was a decrease in local edema, pain control with oral medications, mobility was recovered, although the functional limitation of the right lower limb was maintained, making it impossible to stand and walk

Ewing sarcoma arising in colon and ovary––Two rare sites of presentation

Ewing sarcoma is a rare aggressive malignant round cell tumor, primarily presenting in bone and soft tissues. This study presents two cases of this tumor in unusual locations, one in right colon which presented with intussusception and other in ovary which presented clinically as carcinoma ovary. Both the cases showed histomorphology of primitive round cell tumor with characteristic immunohistochemical profile and was confirmed on molecular analysis. We aim to highlight the importance of considering Ewing sarcoma in the differential diagnoses in these locations as they have dismal prognosis with no standard treatment modality.

Intestinal Ewing sarcoma: An unusual presentation in the pediatric age / Sarcoma de Ewing intestinal: presentación inusual en la edad pediátrica

Abstract Background: Ewing's Sarcoma (ES) is the second most common type of bone cancer, with an annual incidence of 2.9:100,000. Extraosseous cases represent 15%; however, there are no reported cases of ES located in the intestine in the pediatric population. Case report: We describe the case of a 14-year-old male patient, previously healthy, who started with an anemic syndrome, weight loss, and diaphoresis of 8 weeks of evolution. After visiting a physician, who documented the presence of anemia, the patient was referred to the National Institute of Pediatrics. Physical examination showed grade III-IV systolic murmur, splenomegaly, and pain in the left hemiabdomen with no irradiation. Computed axial tomography showed a mass-dependent on the peritoneum and intestinal loop. A biopsy of the lesion showed intestinal ES. The lesion was completely resected, and the patient was treated with chemotherapy and radiotherapy. Thirty months after diagnosis, the patient has no evidence of tumor activity. Conclusions: Extraosseous presentation of ES in pediatric age is rare. There are no reports of intestinal ES in the Latin American pediatric population, although eight case reports were found in adults. ES is curable by a combination of chemotherapy, radiotherapy, and surgery. The medical literature indicates that the extraosseous presentation should receive the same treatment as the osseous presentation, which can provide a survival rate of up to 70% if there is no evidence of metastasis (which most frequently is observed in the lung).

Resumen Introducción: El sarcoma de Ewing (SE) es el segundo tipo cáncer más común de hueso, cuya incidencia anual es de 2.9:100,000. Los casos extraóseos representan el 15%; sin embargo, no existen reportes en la literatura de casos de SE ubicados en el intestino en la población pediátrica. Caso clínico: Se describe el caso de un paciente de sexo masculino de 14 años, previamente sano, que inició con síndrome anémico, pérdida de peso y diaforesis de 8 semanas de evolución. Acudió con un médico, quien documentó la presencia de anemia y lo refirió al Instituto Nacional de Pediatría. A la exploración física presentaba soplo sistólico grado III-IV, esplenomegalia y dolor en hemiabdomen izquierdo sin irradiaciones. La tomografía axial computarizada mostró una masa dependiente del peritoneo y asa intestinal. La biopsia de la lesión reportó SE intestinal. Se resecó por completo la lesión y el paciente recibió tratamiento con quimioterapia y radioterapia. Después de 30 meses del diagnóstico, el paciente se encuentra sin datos de actividad tumoral. Conclusiones: La presentación extraósea del SE en edad pediátrica es rara. No existen reportes de presentación de SE intestinal en la población pediátrica latinoamericana, aunque se encontraron ocho reportes de caso en adultos. El SE es curable mediante la combinación de quimioterapia, radioterapia y cirugía. La literatura médica indica que la presentación extraósea debe recibir el mismo tratamiento que la ósea, lo cual puede proporcionar una sobrevida de hasta el 70% si no hay evidencia de metástasis (que ocurre más frecuentemente a pulmón).

The diagnostic potential of friend leukemia integration-1 and NKX2.2 in children with extraskeletal Ewing′s sarcoma / 中华实用儿科临床杂志

Objective:To investigate the value of friend leukemia integration-1 (FLI1) and NKX2.2 in the diagnosis of pediatric extraskeletal Ewing′s sarcoma (E-EWS), and the differential diagnosis of other pediatric small round cell tumors.Methods:Clinical data of children with E-EWS and other small round cell tumors diagnosed in the Department of Pathology of Xi′an Children′s Hospital and Xijing Hospital, Air Forth Medical University from January 2014 to December 2020 were retrospectively analyzed.Expression levels of FLI1 and NKX2.2 were examined by immunohistochemical staining.Results:(1)A total of 27 cases of E-EWS and 145 cases of other small round cell tumors were included, including 40 cases of poorly differentiated and undifferentiated neuroblastoma, 34 cases of rhabdomyosarcoma, 30 cases of metanephric Wilms tumor, 25 cases of lymphoma, 10 cases of malignant rhabdomyosarcoma, 2 cases of myeloid sarcoma, 1 case of desmoplastic small round cell tumor, 1 case of BCOR-rearranged sarcoma, 1 case of CIC-rearranged sarcoma and 1 case of melanotic neuroectodermal tumor of infancy.(2)The sensitivity, specificity, positive and negative predictive value of FLI1 in E-EWS were 88.9%(24/27 cases), 5.5%(8/145 cases), 14.9%(24/161 cases) and 72.8% (8/11 cases), respectively, and those of NKX2.2 in E-EWS were 92.6%(25/27 cases), 97.9%(142/145 cases), 89.3% (25/28 cases) and 98.6%(142/144 cases), respectively.The sensitivity, specificity, positive and negative predictive value of combined FLI1 and NKX2.2 were 85.2%, 97.9%, 88.5%, and 97.3%, respectively.Conclusions:NKX2.2 is sensitive and specific for the differential diagnosis of E-EWS from other pediatric small round cell tumors, showing a high diagnostic utility.FLI1 has high sensitivity but poor specificity for diagnosing E-EWS.The combination of detecting FLI1, NKX2.2 and other antibodies and genetic analysis is recommended to prevent misdiagnosis.

Cervical Primary Ewing's Sarcoma:Report of One Case / 中国医学科学院学报

Ewing's sarcoma in the cervix is characterized by extremely rare occurrence,high degree of malignancy,and rapid progression.The diagnosis of this disease is based on pathology and immunohistochemistry. The main image of the case reported in this paper showed the cervical cyst with solid mass,large volume,and uneven density and signal,and the solid part can be strengthened in enhanced scanning.Because of the rapid growth,the lesion is prone to liquefaction necrosis and bleeding.Since the metastasis occurs early,timely diagnosis is essential.

Viviendo con sarcoma maligno en miembros inferiores: experiencia adolescente / Living with malignant sarcoma in lower limbs: adolescent experience

Padecer cáncer se considera una situación devastadora que divide la vida de quien lo padece y genera cambios a nivel físico, mental, emocional, social y espiritual. Entre las neoplasias malignas, se encuentran el osteosarcoma y el sarcoma de Ewing como los dos tipos de sarcomas más representativos en la adolescencia y en ubicación anatómica en miembros inferiores. Los adolescentes que padecen de sarcoma se enfrentan a una situación que amenaza su vida o su integridad y que supera todas las herramientas con las que cuentan para enfrentarla, lo cual los lleva al límite y les genera una crisis vital. Esta situación ha sido ampliamente abordada por diferentes investigaciones desde el análisis de la fisiopatología, el diagnóstico, el tratamiento, la rehabilitación; mientras que otras estudian el manejo de los síntomas, la calidad de vida y las vivencias de los adolescentes desde la visión de los adultos. Sin embargo, son escasos los estudios que abordan la experiencia de vida de los adolescentes con sarcoma maligno en miembros inferiores desde su propia voz. Objetivo: Comprender las experiencias de los adolescentes que viven con sarcoma maligno en miembros inferiores. Método: Estudio cualitativo, desarrollado bajo la metodología de teoría fundamentada desde el paradigma constructivista con once adolescentes entre los 10 y los 19 años que padecen de sarcoma en miembros inferiores. La recolección de los datos se llevó a cabo a través de cuatro métodos: entrevistas intensivas, análisis de redes sociales por medio de observación virtual participante, escritos y la investigadora. El análisis de los datos se realizó por medio del programa de ATLAS.ti, versión 8.0, a partir de los procesos de codificación inicial, enfocada y teórica, propuestos por Kathy Charmaz. La coconstrucción de la compresión de las experiencias se realizó entre los participantes como expertos y la investigadora, para lo cual se siguió una rigurosa comparación constante de los datos y su triangulación. Resultados: La comprensión de las experiencias de los adolescentes con sarcoma en miembros inferiores se representan en el planteamiento teórico Anteponiéndome al cáncer en mi pierna: de la invulnerabilidad a la emancipación. La trayectoria de las experiencias se enmarcó en tres categorías que fueron analizadas conforme avanzaba la trayectoria de la enfermedad, a saber: Dejando mi ser invulnerable: enfrentando mi nueva realidad; Persistiendo en vivir: aceptando, luchando y resistiendo; y Tomando las riendas de mi vida: ajustando y viviendo mi nueva vida. Finalmente, del proceso de comparación constante de las categorías emergió el planteamiento teórico a partir del cual, al ser contrastado con la literatura precedente, se definieron los siguientes seis conceptos centrales de la teoría sustantiva resultante: Vulnerabilidad; Motivación; Apoyo social; Afrontamiento; Resiliencia; y Emancipación. Conclusiones: La construcción de la experiencia de los adolescentes con sarcoma en miembros inferiores se consolidó dada la transición de dejar la percepción de invulnerabilidad de los adolescentes hasta el desarrollo de su emancipación. Esta emancipación, más allá de significar la separación de su núcleo familiar, implicó la diferenciación de los adolescentes como seres autónomos, empoderados, adaptables, motivados, resilientes, conscientes del apoyo social con el que cuentan, capaces de elaborar decisiones y conscientes no sólo de su propia vulnerabilidad, sino también de sus capacidades de afrontar las crisis vitales venideras.

Having cancer is a devastating situation that splits the life of those who suffer it, causing changes on a mental, physical, emotional, social, and spiritual levels. This is the case of sarcoma, a low incidence but high mortality malignant neoplasm. This type of tumor is more frequent in the lower limbs than in the upper limbs and adolescents are the main population at risk. Teenagers then face a life-threatening situation that takes them to the limit of their underdeveloped troubleshooting skills, which then provokes a life crisis. Such a situation has been approached from distinct fields of knowledge, some of them focused on the diagnosis and treatment of the disease, whilst others focus on quality of life and experience of the adolescent. Nonetheless, research surrounding life experiences of adolescents with malignant sarcoma of the lower limbs addressed from the perspective of the adolescent are scarce. Objectives: To understand the life-experience of adolescents that live with malignant sarcoma of the lower limbs. Methods: A qualitative grounded theory-based study was made from a constructivist paradigm. Eleven Adolescents aged 10 to 19 years old diagnosed with lower limb sarcoma participated in the study through intensive interviews, participating virtual observation and optional written records. The latter went through content analysis while the participating virtual observation was made through social network analysis and the researchers own reflection; interviews on the other hand were analyzed through ATLAS.ti 8.0 software following initial, focused, and theoretical coding proposed by Kathy Charmaz. Results: The comprehension of the experiences of adolescents with malignant sarcoma of the lower limbs is comprised in the theoretical approach called Overcoming cancer in my leg: From invulnerability to emancipation which is composed of three main categories that develop as the treatment of the disease takes place and represent the course of experiences endured by the adolescents. These three categories are Renouncing my invulnerability, facing my new reality; Persisting in living: accepting, fighting, and resisting; and Taking the reins of my life: adjusting and living my new life. From the constant comparison and contrast of these categories with precedent literature, six concepts are embraced for the theoretical approach, as follows: Vulnerability; Motivation; Social support; Coping; Resilience; and Emancipation. Conclusions: The construction of the experience of adolescents with lower limb sarcoma has revealed the development of a process of anticipated emancipation based on motivation, social support, coping and resilience. Such emancipation goes beyond the separation from the family nucleus and implies the differentiation of adolescents as autonomous, empowered, adaptative, motivated, resilient, and decision-making beings, aware of their own vulnerability and their capacity to endure upcoming vital crises that may arise.

Bioinformatics-based identification of key genes CDC5L and related pathways in osteosarcoma and Ewing's sarcoma / 中国骨伤

OBJECTIVE@#Osteosarcoma(OS) and Ewing's sarcoma (EWS) are the two most common primary malignant bone tumors in children. The aim of the study was to identify key genes in OS and EWS and investigate their potential pathways.@*METHODS@#Expression profiling (GSE16088 and GSE45544) were obtained from GEO DataSets. Differentially expressed genes were identified using GEO2R and key genes involved in the occurrence of both OS and EWS were selected using venn diagram. Gene ontology and pathway enrichment analyses were performed for the ensembl. Protein-protein interaction (PPI) networks were established by STRING. Further, UCSC was used to predict the transcription factors of the cell division cycke 5-like(CDC5L) gene, and GEPIA was used to analyze the correlation between the transcription factors and the CDC5L gene.@*RESULTS@#The results showed that CDC5L gene was the key gene involved in the pathogenesis of OS and EWS. The gene is mainly involved in mitosis, and is related to RNA metabolism, processing of capped intron-containing pre-mRNA, mRNA and pre-mRNA splicing.@*CONCLUSION@#CDC5L, as a key gene, plays a role in development of OS and EWS, which may be reliable targets for diagnosis and treatment of these primary malignant tumors.

Respuesta patológica completa al tratamiento multimodal en sarcoma de Ewing del adulto / Pathological complete response after multimodal treatment of adult Ewing sarcoma

Resumen El sarcoma de Ewing es una neoplasia rara y altamente agresiva que afecta con cierta predilección adolescentes varones. La incorporación de terapia neoadyuvante y nuevas técnicas quirúrgicas ha mejorado la supervivencia. Presentamos el caso de un varón de 41 años con sarcoma de Ewing de pared torácica, quien recibió tratamiento multimodal consistente en quimio-radioterapia concurrente y tratamiento qui rúrgico, y alcanzó respuesta patológica completa. El sarcoma de Ewing rara vez se presenta en la edad adulta y, cuando lo hace, suele tener mal pronóstico. El tratamiento multimodal de pacientes mayores de 40 años ha probado mejorar los resultados oncológicos.

Abstract Ewing sarcoma is a rare and highly aggressive neoplasm that occurs most frequently in male adolescents. The incorporation of neoadjuvant therapy and new surgical techniques has improved survival. We present the case of a 41-year-old man diagnosed with Ewing sarcoma of the chest wall, whose tumor showed a pathological complete response to a multimodal treatment consisting of concurrent chemotherapy, radiotherapy, and surgical resection. Ewing sarcoma rarely occurs in adults, who generally have a worse prognosis. A multimodal approach for the treatment of patients older than 40 years has proven to improve oncological results.

Progress in clinicopathological features of Ewing's sarcoma and Ewing-like sarcoma / 中国肿瘤临床

Ewing's sarcoma and Ewing-like sarcoma are highly invasive sarcomas predominantly characterized by the presence of small round cells. Although certain morphological and immunophenotypical characteristics are similar between the two sarcomas, there are obvious differences in the disease sites, clinical manifestations, prognoses, and treatment responses. Additionally, Ewing-like sarcomas lack the typical molecular characteristics of Ewing's sarcoma. A growing body of evidence shows that Ewing-like sarcomas constitute a different disease type with unique characteristics, and are not just a subtype of Ewing's sarcoma. The discovery of novel molecular genetic tests has significantly aided the reevaluation of the classification of small round cell tumors. This article aims to review the recent progress in the research on Ewing's sarcoma and the major subclasses of Ewing-like sarcoma characterized thus far: CIC rearrangement sarcoma, BCOR rearrangement sarcoma, non-ETS family gene rearrangement sarcoma, and undifferentiated small round cell sarcoma.