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Sarcoma alveolar das partes moles
ORPHA:163699CID-10 · C49.9OMIM 606243DOENÇA RARA

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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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.

Publicações científicas
47 artigos
Último publicado: 2025 Sep
🏥
SUS: Sem cobertura SUSScore: 0%
CID-10: C49.9
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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

Sarcoma de partes moles alveolar
HP:0001442
2sintomas
Sem dados (2)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 2 características clínicas mais associadas, ordenadas por frequência.

Sarcoma de partes moles alveolarAlveolar soft part sarcoma
HP:0001442

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2025
Total histórico47PubMed
Últimos 10 anos14publicações
Pico20235 papers
Linha do tempo
2025Hoje · 2026🧪 1991Primeiro ensaio clínico📈 2023Ano de pico
Publicações por ano (últimos 10 anos)

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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.

Not applicable
ASPSCR1Tether containing UBX domain for GLUT4Part of a fusion gene inTolerante
FUNÇÃO

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

LOCALIZAÇÃO

Endomembrane systemEndoplasmic reticulum-Golgi intermediate compartment membraneCytoplasmNucleus

VIAS BIOLÓGICAS (1)
Translocation of SLC2A4 (GLUT4) to the plasma membrane
OUTRAS DOENÇAS (2)
alveolar soft part sarcomaMIT family translocation renal cell carcinoma
HGNC:13825UniProt:Q9BZE9
TFE3Transcription factor E3Part of a fusion gene inAltamente restrito
FUNÇÃO

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

LOCALIZAÇÃO

Cytoplasm, cytosolNucleusLysosome membrane

VIAS BIOLÓGICAS (1)
Transcriptional and post-translational regulation of MITF-M expression and activity
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Ubíquo)
Fallopian Tube
116.0 TPM
Útero
109.4 TPM
Nervo tibial
107.4 TPM
Cervix Ectocervix
103.1 TPM
Sangue
102.7 TPM
OUTRAS DOENÇAS (5)
intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse faciesrenal cell carcinoma, Xp11-associatedalveolar soft part sarcomaMIT family translocation renal cell carcinoma
HGNC:11752UniProt:P19532

Medicamentos aprovados (FDA)

2 medicamentos encontrados nos registros da FDA americana.

💊 TECENTRIQ (ATEZOLIZUMAB)
💊 Tecentriq Hybreza (ATEZOLIZUMAB AND HYALURONIDASE-TQJS)
Ver no DailyMed/FDA

Variantes genéticas (ClinVar)

240 variantes patogênicas registradas no ClinVar.

🧬 TFE3: NM_006521.6(TFE3):c.350_358del (p.Arg117_Gln119del) ()
🧬 TFE3: NM_006521.6(TFE3):c.1321_1323delinsATG (p.Val441Met) ()
🧬 TFE3: NM_006521.6(TFE3):c.243A>T (p.Ser81=) ()
🧬 TFE3: NM_006521.6(TFE3):c.1067G>A (p.Arg356His) ()
🧬 TFE3: NM_006521.6(TFE3):c.248A>T (p.Gln83Leu) ()
Ver todas no ClinVar

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

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Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
2Fase 21
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 1 ensaio
Carregando informações de tratamento...

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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Selecione um estado ou use sua localização para ver resultados.

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

Pesquisa e ensaios clínicos

1 ensaios clínicos encontrados.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

Timeline de publicações
14 papers (10 anos)
#1

Correlation between tumor stroma ratio, prognosis, and apparent diffusion coefficient in alveolar soft part sarcoma.

European radiology2025 Sep

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.

#2

Alveolar Soft Tissue Sarcoma: Correlation of MRI Features With Histological Grading and Patient Prognosis.

Journal of magnetic resonance imaging : JMRI2025 Mar

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.

#3

Sarcoma of the uterine cervix: experience of a single center.

World journal of surgical oncology2024 Apr 18

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.

#4

A case of alveolar soft tissue sarcoma detected by ultrasound examination.

Medical ultrasonography2024 Jun 21
#5

Alveolar Soft Tissue Sarcoma in the Right Thigh: A Case Study at King Abdulaziz Medical City, Jeddah, Saudi Arabia.

Cureus2023 Nov

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

Ver todas no PubMed

📚 EuropePMC28 artigos no totalmostrando 14

2025

Correlation between tumor stroma ratio, prognosis, and apparent diffusion coefficient in alveolar soft part sarcoma.

European radiology
2025

Alveolar Soft Tissue Sarcoma: Correlation of MRI Features With Histological Grading and Patient Prognosis.

Journal of magnetic resonance imaging : JMRI
2024

A case of alveolar soft tissue sarcoma detected by ultrasound examination.

Medical ultrasonography
2024

Sarcoma of the uterine cervix: experience of a single center.

World journal of surgical oncology
2023

Alveolar Soft Tissue Sarcoma in the Right Thigh: A Case Study at King Abdulaziz Medical City, Jeddah, Saudi Arabia.

Cureus
2023

[Efficacy and safety of Anlotinib in the treatment of advanced sarcoma].

Zhonghua zhong liu za zhi [Chinese journal of oncology]
2023

Diagnostic Challenges in PD-1 Inhibitor Induced Panuveitis in a Teenage Girl with Chest Soft Tissue Sarcoma - A Case Report.

Ocular immunology and inflammation
2023

The efficacies and biomarker investigations of antiangiogenic agents and PD-1 inhibitors for metastatic soft tissue sarcoma: A multicenter retrospective study.

Frontiers in oncology
2023

Alveolar soft tissue sarcoma: a report of 50 cases at a single institution.

Acta chirurgica Belgica
2021

[Primary alveolar soft tissue sarcoma of the brain and lung: report of two cases].

Zhonghua bing li xue za zhi = Chinese journal of pathology
2020

Alveolar Soft Part Sarcoma of the Tongue in an Adolescent.

Cureus
2017

[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 surgery
2017

Alveolar soft part sarcoma occurring in the penis of a 3-year-old boy: A rare case report.

Medicine
2015

[Fine needle aspiration cytology in diagnosis of alveolar soft tissue sarcoma: report of a case].

Zhonghua bing li xue za zhi = Chinese journal of pathology
Ver todos os 28 no EuropePMC

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

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.

  1. Correlation between tumor stroma ratio, prognosis, and apparent diffusion coefficient in alveolar soft part sarcoma.
    European radiology· 2025· PMID 40088287mais citado
  2. Alveolar Soft Tissue Sarcoma: Correlation of MRI Features With Histological Grading and Patient Prognosis.
    Journal of magnetic resonance imaging : JMRI· 2025· PMID 39037329mais citado
  3. Sarcoma of the uterine cervix: experience of a single center.
    World journal of surgical oncology· 2024· PMID 38637834mais citado
  4. A case of alveolar soft tissue sarcoma detected by ultrasound examination.
    Medical ultrasonography· 2024· PMID 38909374mais citado
  5. Alveolar Soft Tissue Sarcoma in the Right Thigh: A Case Study at King Abdulaziz Medical City, Jeddah, Saudi Arabia.
    Cureus· 2023· PMID 38156155mais citado

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:163699(Orphanet)
  2. OMIM OMIM:606243(OMIM)
  3. MONDO:0011655(MONDO)
  4. GARD:5654(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. 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

Sarcoma alveolar das partes moles
Compêndio · Raras BR

Sarcoma alveolar das partes moles

ORPHA:163699 · MONDO:0011655
CID-10
C49.9 · Neoplasia maligna do tecido conjuntivo e tecidos moles, não especificados
Início
All ages
MedGen
UMLS
C0206657
EuropePMC
Wikidata
Papers 10a
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