É um tumor com células pequenas e arredondadas que, mesmo com exames detalhados (como observação no microscópio e testes específicos), não mostra características de que tenha origem em tecidos nervosos. Ele é uma das variações de um grupo de tumores conhecido como Sarcoma de Ewing e Tumor Neuroectodérmico Periférico. Afeta principalmente homens com menos de 20 anos e pode surgir tanto em tecidos moles (como músculos e gordura) quanto nos ossos. Dor e a presença de um caroço (massa) são os sintomas clínicos mais comuns.
Introdução
O que você precisa saber de cara
É um tumor com células pequenas e arredondadas que, mesmo com exames detalhados (como observação no microscópio e testes específicos), não mostra características de que tenha origem em tecidos nervosos. Ele é uma das variações de um grupo de tumores conhecido como Sarcoma de Ewing e Tumor Neuroectodérmico Periférico. Afeta principalmente homens com menos de 20 anos e pode surgir tanto em tecidos moles (como músculos e gordura) quanto nos ossos. Dor e a presença de um caroço (massa) são os sintomas clínicos mais comuns.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Entender a doença
Do básico ao detalhe, leia no seu ritmo
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 2 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
6 genes identificados com associação a esta condição. Padrão de herança: Not applicable.
Transcriptional activator (PubMed:19307308, PubMed:31552090). Regulates the positioning of motor neurons within the lateral medial column of the spinal cord and controls the terminal arborization of specific motor neuron axons within their target muscles (By similarity). Required for the expression of CDH8 and SEMA3E in ETV4-expressing motor neurons and for the exclusion of CDH7 expression from these neurons (By similarity). May play a role in keratinocyte differentiation (PubMed:31552090) (Micr
Nucleus
Binds to ssRNA containing the consensus sequence 5'-AGGUAA-3' (PubMed:21256132). Might normally function as a transcriptional repressor (PubMed:10767297). EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes
NucleusCytoplasmCell membrane
Ewing sarcoma
A highly malignant, metastatic, primitive small round cell tumor of bone and soft tissue that affects children and adolescents. It belongs to the Ewing sarcoma family of tumors, a group of morphologically heterogeneous neoplasms that share the same cytogenetic features. They are considered neural tumors derived from cells of the neural crest. Ewing sarcoma represents the less differentiated form of the tumors.
Transcriptional activator that binds to DNA sequences containing the consensus pentanucleotide 5'-CGGA[AT]-3' (PubMed:7651741). Required for olfactory dopaminergic neuron differentiation; may directly activate expression of tyrosine hydroxylase (TH) (By similarity)
Nucleus
Ewing sarcoma
A highly malignant, metastatic, primitive small round cell tumor of bone and soft tissue that affects children and adolescents. It belongs to the Ewing sarcoma family of tumors, a group of morphologically heterogeneous neoplasms that share the same cytogenetic features. They are considered neural tumors derived from cells of the neural crest. Ewing sarcoma represents the less differentiated form of the tumors.
Transcriptional regulator. May participate in transcriptional regulation through the recruitment of SETDB1 histone methyltransferase and subsequent modification of local chromatin structure
NucleusCytoplasm
Ewing sarcoma
A highly malignant, metastatic, primitive small round cell tumor of bone and soft tissue that affects children and adolescents. It belongs to the Ewing sarcoma family of tumors, a group of morphologically heterogeneous neoplasms that share the same cytogenetic features. They are considered neural tumors derived from cells of the neural crest. Ewing sarcoma represents the less differentiated form of the tumors.
Sequence-specific transcriptional activator (PubMed:24100448, PubMed:26316623, PubMed:28255014). Recognizes the DNA sequence 5'-C[CA]GGAAGT-3'
Nucleus
Ewing sarcoma
A highly malignant, metastatic, primitive small round cell tumor of bone and soft tissue that affects children and adolescents. It belongs to the Ewing sarcoma family of tumors, a group of morphologically heterogeneous neoplasms that share the same cytogenetic features. They are considered neural tumors derived from cells of the neural crest. Ewing sarcoma represents the less differentiated form of the tumors.
ATPase that possesses intrinsic ATP-dependent nucleosome-remodeling activity (PubMed:12972596, PubMed:28801535). Catalytic subunit of ISWI chromatin-remodeling complexes, which form ordered nucleosome arrays on chromatin and facilitate access to DNA during DNA-templated processes such as DNA replication, transcription, and repair; this may require intact histone H4 tails (PubMed:10880450, PubMed:12198550, PubMed:12434153, PubMed:12972596, PubMed:23911928, PubMed:28801535). Within the ISWI chroma
NucleusChromosome
Variantes genéticas (ClinVar)
264 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
18 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Sarcoma de Ewing
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
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Ensaios clínicos abertos e novidades científicas recentes
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Outros ensaios clínicos
Publicações mais relevantes
Uterine transposition for fertility preservation in extra-skeletal ewing sarcoma: the first French case report.
We present the first French case of uterine transposition for fertility preservation in a 25-year-old nulligravida patient with rectovaginal extra-skeletal Ewing sarcoma. After receiving induction chemotherapy, the uterus was transposed to the upper abdomen via laparotomy. During the same procedure, a posterior pelvectomy was performed to achieve wide surgical margins for tumor removal. To mitigate digestive toxicity from subsequent pelvic radiotherapy, a breast expansion prosthesis was placed. The patient experienced regular menstruation postoperatively, indicating preserved uterine function. After completing radiochemotherapy, we successfully repositioned the uterus into the pelvis. Menstruation resumed within months of reimplantation, and a clinical examination revealed a normal-appearing cervix. This case demonstrates the feasibility and potential benefits of uterine transposition for preserving fertility in women with pelvic malignancies who require radiotherapy. Further research is needed to evaluate the long-term outcomes and reproductive potential of this procedure.
A proposed radiological model for preoperative chemotherapy response prediction in patients with skeletal Ewing sarcoma.
To develop a predictive model for estimating the histological response to preoperative chemotherapy based on imaging data in patients with Ewing sarcoma. We included 133 patients with Enneking stage IIB or IIIB Ewing sarcoma who underwent chemotherapy and definitive surgery between 2003 and 2020. We analyzed various radiological parameters before and after preoperative chemotherapy. The necrotic area was evaluated using gadolinium-contrasted magnetic resonance imaging (radiological necrotic grade). Patients were classified as good histological responders if > 95% of their resected specimens showed necrosis; otherwise, they were classified as poor responders. Radiological parameters were assessed using the least absolute shrinkage and selection operator (LASSO) with cross-validation. Optimal regularization parameters were identified as those minimizing cross-validation error. The area under the curve (AUC) was calculated based on the predictive model with the selected parameters for training and test data using receiver operating characteristic (ROC) curve. LASSO models identified key parameters including volume change, radiological necrotic grade, complete regression of the extraskeletal component, and the disappearance of peritumoral gadolinium-enhancement after preoperative chemotherapy. ROC curve analysis showed that the predictive model achieved measurable discrimination ability on both training and test datasets (AUC = 0.89 [95% confidence interval (95%CI); 0.83-0.95] on training data, 0.77 [95%CI; 0.58-0.95] on test data). The developed model may facilitate accurate monitoring of the efficacy of preoperative chemotherapy in patients with Ewing sarcoma. Identifying patients with a poor histological response to preoperative chemotherapy can aid in the planning of secure surgical margins and effective treatment strategies.
Favourable outcomes of extraskeletal Ewing sarcoma treated on a non-dense chemotherapy backbone with inclusion of radiotherapy for local control.
Extra skeletal Ewing sarcoma (EES) has less clearly defined clinical behaviour and treatment strategies. We report the clinical profile, outcomes and prognostic factors of children with EES treated at a single centre over a decade on a non-dose chemotherapy backbone. Children ≤15 years of age with EES treated from January 2012 to December 2021 were retrospectively analysed. All received EFT-2001, a non-dose chemotherapy protocol. Local therapy was planned after 9-12 weeks of chemotherapy. One hundred and six patients formed the study cohort. The majority of the primary was axial in location. Metastasis was present in 25.5%, mainly in the lungs. Local therapy was definitive radiotherapy in 59.1% (n = 58), surgery only in 3% (n = 3) and surgery and radiotherapy in 37.9% (n = 37). At a median follow-up of 43 months (range, 33-52 months), 4-year event-free survival (EFS) and overall survival (OS) of the whole cohort were 70.4% (95% CI: 60.8%-85.3%) and 86.5% (95% CI: 79.3%-94.1%). Four-year EFS and OS of the localised cohort were 73.8% (95% CI: 60%-83.3%) and 88.6% (95% CI: 87.4%-90.2%) and those of the metastatic cohort were 32.4% (95% CI: 21.4%-86.5%) and 61.9% (95% CI: 54.1%-86.3%), respectively. On multivariate analysis, EFS was affected by albumin ≤ 3 g/dL (p = 0.01) and delay in any type of local therapy from initiation of chemotherapy ≥12 weeks (p = 0.01), whereas OS was affected by male gender (p = 0.02). Survival of children with EES treated on a strategy based on non-dose dense chemotherapy with inclusion of radiotherapy as local control modality is comparable to the Western cohorts, especially in the localised setting. Timely delivery of local therapy is imperative for optimal outcomes.
Intensified Induction Therapy for Newly Diagnosed, Localized Skeletal Ewing Sarcoma (ISG/AIEOP EW-1): A Randomized, Open-Label, Phase 3, Non-Inferiority Trial.
Several studies have shown that the intensity of treatment in Ewing sarcoma has an impact on outcome. The present trial tested the non-inferiority of intensive, shorter, induction chemotherapy (25 weeks total treatment time) compared to the standard treatment (37 weeks) in non-metastatic Ewing sarcoma (ES) at onset. This national, multicenter, parallel, randomized, controlled, open-label, non-inferiority, phase III trial was conducted in 14 specialized hospitals in Italy. Patients aged 2-40 years with newly diagnosed localized ES were randomized to receive four courses of induction therapy (one every 21 days) either with a standard arm (Arm A) or with an intensive arm (Arm B). For consolidation therapy, good responders (GRs) in Arm A received nine courses (37 weeks), while Arm B patients received five courses (25 weeks). Poor responders for both arms received four courses followed by high-dose busulfan/melphalan + autologous stem cell rescue. Follow-up was 5 years. In the study period 2009-2018, 274 patients with ES at onset were screened, 248 were eligible, 15 refused randomization, and 233 were randomized (Arm A: 113; Arm B: 120). Median age was 14 years. Arm B was not inferior to Arm A: 5-year EFS was 77.5% and 71.6%, respectively (HR vs. Arm A: 0.74, 90% CI: 0.49-1.14). GRs were 54.9% in Arm A and 62.5% in Arm B. Hematological, gastrointestinal, and cardiovascular Grade ≥3 toxicities had higher frequencies in Arm B. Intensive induction therapy showed non-inferiority in 5-year EFS when compared with the standard induction therapy. Higher toxicity was reported in Arm B with similar outcome, counterbalanced in GRs with a shorter treatment plan. gov Identifier: NCT02063022.
Rare case of Infiltrative multifocal Ewing sarcoma presenting as neck mass.
Ewing sarcoma is a rare, highly aggressive small round cell tumor that primarily affects the bones of adolescents and young adults, with extra skeletal involvement being particularly uncommon. We present the case of an 18-year-old male with a progressively enlarging, painful swelling in the right posterior neck, ultimately diagnosed as Extra skeletal Ewing sarcoma involving the occipital bone and C1 vertebra. Imaging revealed extensive intracranial, intraspinal, and paravertebral extension with multiple skeletal metastases. Histopathological and immunohistochemical analysis confirmed the diagnosis, showing NKX 2.2 positivity. The patient was initiated on systemic chemotherapy using the VDC/IE regimen, leading to significant clinical and radiological improvement. This case underscores the importance of considering Ewing sarcoma in atypical paraspinal and cranial presentations and highlights the critical role of early multimodal imaging and chemotherapy in managing aggressive disease.
Publicações recentes
Favourable outcomes of extraskeletal Ewing sarcoma treated on a non-dense chemotherapy backbone with inclusion of radiotherapy for local control.
Uterine transposition for fertility preservation in extra-skeletal ewing sarcoma: the first French case report.
A proposed radiological model for preoperative chemotherapy response prediction in patients with skeletal Ewing sarcoma.
Rare case of Infiltrative multifocal Ewing sarcoma presenting as neck mass.
Unusual Retroperitoneal Soft Tissue Sarcomas: Giant Masqueraders.
📚 EuropePMC19 artigos no totalmostrando 36
Favourable outcomes of extraskeletal Ewing sarcoma treated on a non-dense chemotherapy backbone with inclusion of radiotherapy for local control.
EcancermedicalscienceUterine transposition for fertility preservation in extra-skeletal ewing sarcoma: the first French case report.
Journal of gynecology obstetrics and human reproductionA proposed radiological model for preoperative chemotherapy response prediction in patients with skeletal Ewing sarcoma.
Skeletal radiologyRare case of Infiltrative multifocal Ewing sarcoma presenting as neck mass.
Radiology case reportsUnusual Retroperitoneal Soft Tissue Sarcomas: Giant Masqueraders.
Nigerian medical journal : journal of the Nigeria Medical AssociationExtra-skeletal Ewing sarcoma in a 63-year-old female with a history of triple-negative breast cancer: a case report and literature review.
Frontiers in oncologyEwing Sarcoma Family of Tumors (ESFTs) of Renal Origin Presenting With Bone Metastases: A Case Report.
CureusPrimary Visceral Ewing Sarcoma (Gastric and Bladder) with KIT Expression: A Report of Two Patients and a Differential Diagnostic Approach.
International journal of surgical pathologyIntensified Induction Therapy for Newly Diagnosed, Localized Skeletal Ewing Sarcoma (ISG/AIEOP EW-1): A Randomized, Open-Label, Phase 3, Non-Inferiority Trial.
Pediatric blood & cancerExtra-skeletal Ewing sarcoma of the diaphragm in a young female: a case report.
Annals of medicine and surgery (2012)A Case of Primary Ewing Sarcoma of the Kidney: Robotic-Assisted Nephron-Sparing Surgery, a Feasible Alternative in Treatment of Localized Disease.
Current oncology (Toronto, Ont.)An unusual cystic presentation of pelvic skeletal Ewing sarcoma: a case series.
Skeletal radiologyA Case of Extraskeletal Ewing Sarcoma Treated With Wide Local Excision With Latissimus Dorsi Flap and Systemic Therapy.
Cureus3D vs. 2D MRI radiomics in skeletal Ewing sarcoma: Feature reproducibility and preliminary machine learning analysis on neoadjuvant chemotherapy response prediction.
Frontiers in oncologyLaryngeal extra-skeletal Ewing sarcoma treated with DC-CTL immunotherapy: A case report and review of the literature.
Frontiers in oncologyTwo-Phase Deep Learning Algorithm for Detection and Differentiation of Ewing Sarcoma and Acute Osteomyelitis in Paediatric Radiographs.
Anticancer researchA case report of retroperitoneal Ewing sarcoma requiring adrenalectomy.
International journal of surgery case reportsEwing's Sarcoma (Primitive Neuroectodermal Tumor) of Seminal Vesicles: A Case Report.
CureusA case of an upper anterior abdominal wall extra-skeletal Ewing sarcoma- soft tissue reconstruction with medial intercostal artery perforator flap and free anterolateral thigh fasciocutaneous flap with arteriovenous loop graft.
Annals of medicine and surgery (2012)Parotid Ewing's sarcoma: Extra-skeletal uncommon condition.
Annals of medicine and surgery (2012)Metastatic renal Ewing's sarcoma in adult woman: Case report and review of the literature.
Open medicine (Warsaw, Poland)Case Report: Primary Ewing Sarcoma of the Penis With Multiple Metastases.
Frontiers in pediatricsEwing Sarcoma With Emphasis on Extra-skeletal Ewing Sarcoma: A Decade's Experience From a Single Centre in India.
Clinical pathology (Thousand Oaks, Ventura County, Calif.)Clinical features, prognostic factors and outcome in a series of 29 extra-skeletal Ewing Sarcoma. Adequate margins and surgery-radiotherapy association improve overall survival.
Journal of orthopaedics[A CASE OF EXTRASKELETAL EWING'S SARCOMA IN THE RETROPERITONEUM].
Nihon Hinyokika Gakkai zasshi. The japanese journal of urologyExtra-skeletal Ewing Sarcoma of the chest wall in a child.
SA journal of radiologyOutcomes of extraskeletal vs. skeletal Ewing sarcoma patients treated with standard chemotherapy protocol.
Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of MexicoComparison of clinical features and outcomes in patients with extraskeletal vs skeletal Ewing sarcoma: an SEER database analysis of 3,178 cases.
Cancer management and researchExtraskeletal versus Skeletal Ewing Sarcoma in the adult population: Controversies in care.
Surgical oncologyPersonalized genomic analysis based on circulating tumor cells of extra-skeletal Ewing sarcoma of the uterus: A case report of a 16-year-old Korean female.
Experimental and therapeutic medicineEight-year follow-up after scapulectomy in a neonate with congenital Ewing sarcoma of the scapula.
Journal of shoulder and elbow surgeryExtra-skeletal Ewing sarcoma of the lumbosacral region in an adult pregnant patient: a case report.
Journal of spine surgery (Hong Kong)Comparison of clinical features and outcomes in patients with extraskeletal versus skeletal localized Ewing sarcoma: A report from the Children's Oncology Group.
Pediatric blood & cancerExtraosseous Ewing Sarcoma: Diagnosis, Prognosis and Optimal Management.
The Indian journal of surgeryTreatment outcomes of Japanese patients with Ewing sarcoma: differences between skeletal and extraskeletal Ewing sarcoma.
Japanese journal of clinical oncologyRole of radiation in the treatment of non-metastatic osseous Ewing sarcoma.
Journal of medical imaging and radiation oncologyAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação

Pioneiro da triagem neonatal na América Latina (1976). 17 milhões de bebês triados.
Comunidades
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Uterine transposition for fertility preservation in extra-skeletal ewing sarcoma: the first French case report.
- A proposed radiological model for preoperative chemotherapy response prediction in patients with skeletal Ewing sarcoma.
- Favourable outcomes of extraskeletal Ewing sarcoma treated on a non-dense chemotherapy backbone with inclusion of radiotherapy for local control.
- Intensified Induction Therapy for Newly Diagnosed, Localized Skeletal Ewing Sarcoma (ISG/AIEOP EW-1): A Randomized, Open-Label, Phase 3, Non-Inferiority Trial.
- Rare case of Infiltrative multifocal Ewing sarcoma presenting as neck mass.
- Unusual Retroperitoneal Soft Tissue Sarcomas: Giant Masqueraders.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:319(Orphanet)
- OMIM OMIM:612219(OMIM)
- MONDO:0012817(MONDO)
- GARD:6390(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q1138580(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
