Um sarcoma de partes moles alveolar que ocorre em adultos. A parte do corpo mais frequentemente afetada são os membros (braços e pernas), principalmente os tecidos que ficam nas camadas mais internas da coxa.
Introdução
O que você precisa saber de cara
Um sarcoma de partes moles alveolar que ocorre em adultos. A parte do corpo mais frequentemente afetada são os membros (braços e pernas), principalmente os tecidos que ficam nas camadas mais internas da coxa.
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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
2 genes identificados com associação a esta condição.
Tethering protein that sequesters GLUT4-containing vesicles in the cytoplasm in the absence of insulin. Modulates the amount of GLUT4 that is available at the cell surface (By similarity). Enhances VCP methylation catalyzed by VCPKMT
Endomembrane systemEndoplasmic reticulum-Golgi intermediate compartment membraneCytoplasmNucleus
Transcription factor that acts as a master regulator of lysosomal biogenesis and immune response (PubMed:2338243, PubMed:24448649, PubMed:29146937, PubMed:30733432, PubMed:31672913, PubMed:37079666). Specifically recognizes and binds E-box sequences (5'-CANNTG-3'); efficient DNA-binding requires dimerization with itself or with another MiT/TFE family member such as TFEB or MITF (PubMed:24448649). Involved in the cellular response to amino acid availability by acting downstream of MTOR: in the pr
Cytoplasm, cytosolNucleusLysosome membrane
Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies
A disorder characterized by severe developmental delay with impaired intellectual development and poor speech, coarse facial dysmorphisms, and Blaschkoid pigmentary mosaicism. Additional clinical features may include epilepsy, orthopedic abnormalities, hypotonia, and growth abnormalities. The disorder affects both males and females.
Medicamentos aprovados (FDA)
2 medicamentos encontrados nos registros da FDA americana.
Variantes genéticas (ClinVar)
240 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
2 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 alveolar das partes moles
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
Pesquisa e ensaios clínicos
1 ensaios clínicos encontrados.
Publicações mais relevantes
Correlation between tumor stroma ratio, prognosis, and apparent diffusion coefficient in alveolar soft part sarcoma.
To investigate the correlation between tumor stroma ratio (TSR) and survival in patients with alveolar soft part sarcoma (ASPS), and the application of apparent diffusion coefficient (ADC) histogram parameters in assessing TSR. This retrospective study collected 61 patients from May 2015 to December 2018. TSR was classified as stroma-rich (low TSR) or stroma-poor (high TSR) based on histology. The correlation between TSR and clinicopathological characteristics was analyzed. Prognostic value for 5-year progression-free survival (5-PFS) and 5-year overall survival (5-OS) were assessed using Kaplan-Meier analysis, log-rank test, and Cox regression. Independent sample t-tests or Mann-Whitney U-test and receiver operating characteristic curve analysis examined TSR and ADC histogram parameters. Sixty-one patients met the inclusion criteria (mean age 25.5 ± 12.2 years; 30 males, 31 females). Low TSR was significantly associated with lymph node metastasis (p = 0.048). In multivariate analysis, low TSR was an independent adverse prognostic factor for 5-PFS (hazard ratios [HR] and 95% = 10.456, 95% confidence intervals [CI]: 1.816-60.208, p = 0.009) and 5-OS (HR = 4.789, 95% CI: 1.164-19.708, p = 0.030). Significant differences were found in ADC25th, ADC50th, and ADCmean between TSR groups (p < 0.05). The combination of the three ADC values improved diagnostic efficiency (area under the curve = 0.781, sensitivity = 81.48%, specificity = 82.35%), with a Youden index of 0.638. TSR is an independent prognostic factor for PFS and OS in ASPS patients. ADC histogram parameters serve as imaging biomarkers for evaluating TSR. Question The prognostic value of TSR in ASPS remains unclear, with limited imaging biomarkers available for assessment. Findings Low TSR is associated with poorer 5-PFS and OS. ADC histogram parameters aid in TSR evaluation. Clinical relevance TSR as a prognostic factor, assessed through ADC histogram parameters, offers a non-invasive imaging method that may be useful in predicting the progression of alveolar soft tissue sarcoma.
Alveolar Soft Tissue Sarcoma: Correlation of MRI Features With Histological Grading and Patient Prognosis.
Alveolar Soft Part Sarcoma (ASPS) is a rare, aggressive cancer whose diagnosis and treatment depend on histological grading. However, tumor variability can lead to underestimation, affecting treatment, and patient survival. To evaluate MRI features associated with Grade III ASPS and to determine the relationship between MRI features and patient prognosis. Retrospective analysis. Sixty-seven patients with ASPS were included with 37 males and 30 females (M/F = 1.23) follow-up and survival analysis on 50 patients. A 3.0 T, T1WI-FSE, T2WI-FSE, DWI-EPI, DCE-MRI (gradient echo). MRI features (margin, peritumoral oedema, peritumoral enhancement, necrosis, vascular flow void signal, heterogeneous signal intensity [SI] at T1WI and T2WI, ADCmean, time-intensity curve [TIC] type, distant metastasis, and bone invasion) and histological grading were independently evaluated by three radiologists and two pathologists, with Grade III considered high-grade. The chi-square or Fisher's exact test was used to assess the correlation between MRI features and histological grading. Multivariable binary logistic regression identified independent factors associated with high-grade tumors. The Kaplan-Meier method and Cox proportional hazards model were used to calculate hazard ratios for MRI features. Tumor necrosis, heterogeneous SI at T2WI ≥50%, and ADCmean were associated with high-grade ASPS. Tumor necrosis was an independent factors associated with local relapse-free survival (odds ratio [OR], 3.88). TIC type was associated with 5-year survival rate (OR, 2.80) and local relapse-free survival (OR, 2.69). Heterogeneous SI at T2WI ≥50% was associated with 5-year survival (OR, 4.00), local relapse-free survival (OR, 5.58), and local relapse-free survival (OR, 4.84). MRI features including tumor necrosis, heterogeneity of SI at T2WI, ADCmean, and TIC type aid in assessing ASPS grading and prognosis. 4 TECHNICAL EFFICACY: Stage 5.
Sarcoma of the uterine cervix: experience of a single center.
To investigate the clinicopathological characteristics and prognosis of patients with primary sarcoma of the uterine cervix. We identified all patients with primary cervical sarcomas treated at our institution from 2002 to 2020 and analyzed the clinicopathological characteristics and prognosis. 34 patients were identified, 7 (20.6%) patients had leiomyosarcoma, 6 (17.6%) had carcinosarcoma, 5 (14.7%) had Ewing sarcoma, 4 (11.8%) had rhabdomyosarcoma, 4 (11.8%) had undifferentiated sarcoma, 2 (5.9%) had adenosarcoma, 2 (5.9%) had endometrial stromal sarcoma, 1 (2.9%) had dermatofibrosarcoma protuberans, 1 (2.9%) had alveolar soft tissue sarcoma and 2 (5.9%) had sarcoma not otherwise specified. The median age of the whole patients was 43.5 years (range, 13-63). The median age of patients with Ewing sarcoma or rhabdomyosarcoma was 22 years (range, 13-39) and 17 years (range, 13-36 years), respectively. The distribution by stage was: stage I in 21 (61.8%) patients, stage II in 4 (11.8%), stage III in 6 (17.6%) and stage IV in 3 (8.8%). Overall, 30 patients (88.2%) received surgical treatment. The median follow-up was 33.3 months (range 3.6-187.3 months). 11 patients died within 2 years after diagnosis, most of them were patients with carcinosarcoma or undifferentiated sarcoma (45.5%, 5/11). In the entire cohort, 2- and 5-year OS were 67.2% and 56.9%, respectively. 5-year OS was 25.0% for undifferentiated sarcoma, 50.0% for rhabdomyosarcoma, 50.0% for carcinosarcoma, 53.3% for Ewing sarcoma, 57.1% for leiomyosarcoma. Cervical sarcomas are rare neoplasms with multiple histological subtypes and follow an aggressive course. Prognosis may be associated with tumor histology and stage.
A case of alveolar soft tissue sarcoma detected by ultrasound examination.
Alveolar Soft Tissue Sarcoma in the Right Thigh: A Case Study at King Abdulaziz Medical City, Jeddah, Saudi Arabia.
The term soft tissue sarcoma (STS) refers to a rare group of multiple subtypes of cancer that arise in connective tissues, such as fat, muscles, and blood vessels. The disease is known to metastasize rapidly. Herein, we report a case of a 24-year-old female who complained of a painless mass in her right thigh that was gradually growing in size. The patient had lost 11 kg of weight unintentionally. On examination, there was a large mass at the right upper lateral thigh, which was warm and nontender on palpation with relatively well-defined margins clinically. The magnetic resonance imaging (MRI) scan suggested the presence of sarcoma. When biopsied, the histopathological assessment showed neoplastic infiltrates consistent with alveolar soft-part sarcoma (ASPS). There was no evidence of metastasis on computerized tomography (CT). Treatment with preoperative radiation followed by surgery was offered after discussion at the Tumor Board meeting, but the patient opted for surgery alone. This was mainly due to her concerns about the adverse effects of radiotherapy on her fertility. The patient did not develop any postoperative complications. This case highlights the importance of identifying and managing such cases promptly to improve clinical outcomes and aims to contribute to improving understanding of this rare disease.
Publicações recentes
Correlation between tumor stroma ratio, prognosis, and apparent diffusion coefficient in alveolar soft part sarcoma.
Alveolar Soft Tissue Sarcoma: Correlation of MRI Features With Histological Grading and Patient Prognosis.
A case of alveolar soft tissue sarcoma detected by ultrasound examination.
Sarcoma of the uterine cervix: experience of a single center.
Alveolar Soft Tissue Sarcoma in the Right Thigh: A Case Study at King Abdulaziz Medical City, Jeddah, Saudi Arabia.
📚 EuropePMC28 artigos no totalmostrando 14
Correlation between tumor stroma ratio, prognosis, and apparent diffusion coefficient in alveolar soft part sarcoma.
European radiologyAlveolar Soft Tissue Sarcoma: Correlation of MRI Features With Histological Grading and Patient Prognosis.
Journal of magnetic resonance imaging : JMRIA case of alveolar soft tissue sarcoma detected by ultrasound examination.
Medical ultrasonographySarcoma of the uterine cervix: experience of a single center.
World journal of surgical oncologyAlveolar Soft Tissue Sarcoma in the Right Thigh: A Case Study at King Abdulaziz Medical City, Jeddah, Saudi Arabia.
Cureus[Efficacy and safety of Anlotinib in the treatment of advanced sarcoma].
Zhonghua zhong liu za zhi [Chinese journal of oncology]Diagnostic Challenges in PD-1 Inhibitor Induced Panuveitis in a Teenage Girl with Chest Soft Tissue Sarcoma - A Case Report.
Ocular immunology and inflammationThe efficacies and biomarker investigations of antiangiogenic agents and PD-1 inhibitors for metastatic soft tissue sarcoma: A multicenter retrospective study.
Frontiers in oncologyAlveolar soft tissue sarcoma: a report of 50 cases at a single institution.
Acta chirurgica Belgica[Primary alveolar soft tissue sarcoma of the brain and lung: report of two cases].
Zhonghua bing li xue za zhi = Chinese journal of pathologyAlveolar Soft Part Sarcoma of the Tongue in an Adolescent.
Cureus[Oropharyngeal alveolar soft tissue sarcoma: a case report].
Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgeryAlveolar soft part sarcoma occurring in the penis of a 3-year-old boy: A rare case report.
Medicine[Fine needle aspiration cytology in diagnosis of alveolar soft tissue sarcoma: report of a case].
Zhonghua bing li xue za zhi = Chinese journal of pathologyAssociações
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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.
- Correlation between tumor stroma ratio, prognosis, and apparent diffusion coefficient in alveolar soft part sarcoma.
- Alveolar Soft Tissue Sarcoma: Correlation of MRI Features With Histological Grading and Patient Prognosis.
- Sarcoma of the uterine cervix: experience of a single center.
- A case of alveolar soft tissue sarcoma detected by ultrasound examination.
- Alveolar Soft Tissue Sarcoma in the Right Thigh: A Case Study at King Abdulaziz Medical City, Jeddah, Saudi Arabia.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:163699(Orphanet)
- OMIM OMIM:606243(OMIM)
- MONDO:0011655(MONDO)
- GARD:5654(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q4063436(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
