# Sarcoma de tecidos moles

> Página oficial: https://raras.org/doenca/sarcoma-de-tecidos-moles
> Fonte: Raras.org — Banco de Dados de Doenças Raras em Português (CC BY-NC-SA 4.0)
> Última atualização: 2026-05-07

## Identificadores

- **ORPHA**: 3394 — https://www.orpha.net/en/disease/detail/3394
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Um câncer que surge do tecido muscular, da gordura, dos vasos sanguíneos, do tecido fibroso ou de outros tecidos de suporte, com exceção dos ossos.

## Epidemiologia e herança

- **Prevalência**: 1-5 / 10 000

## Sinais e sintomas (103 fenótipos HPO)

- **Anormalidade do fígado** — HPO: HP:0001392
- **Lipossarcoma mixoide** — HPO: HP:0012268
- **Pele espessada** — HPO: HP:0001072
- **Linfadenopatia mediastinal** — HPO: HP:0100721
- **Caquexia** — HPO: HP:0004326
- **Neoplasia ovariana** — HPO: HP:0100615
- **Íleo** — HPO: HP:0002595
- **Hepatomegalia** — HPO: HP:0002240
- **Ascite** — HPO: HP:0001541
- **Neoplasia do pulmão** — HPO: HP:0100526
- **Neoplasia testicular** — HPO: HP:0010788
- **Neoplasia do pâncreas** — HPO: HP:0002894
- **Calcificação cerebral** — HPO: HP:0002514
- **Fisiologia renal anormal** — HPO: HP:0012211
- **Anorexia** — HPO: HP:0002039
- **Morfologia anormal da musculatura** — HPO: HP:0003011
- **Dismotilidade gastrointestinal** — HPO: HP:0002579
- **Morfologia pulmonar anormal** — HPO: HP:0002088
- **Encefalopatia** — HPO: HP:0001298
- **Morfologia retiniana anormal** — HPO: HP:0000479
- **Hemiplegia/hemiparesia** — HPO: HP:0004374
- **Consciência/confusão reduzida** — HPO: HP:0004372
- **Enxaqueca** — HPO: HP:0002076
- **Herpes recorrente** — HPO: HP:0005353
- **Linfadenopatia generalizada** — HPO: HP:0008940
- **Imunodeficiência** — HPO: HP:0002721
- **Neoplasia maligna do sistema nervoso central** — HPO: HP:0100836
- **Macrocefalia** — HPO: HP:0000256
- **Hidrocefalia** — HPO: HP:0000238
- **Doença linfoproliferativa** — HPO: HP:0005523
- **Hemangioma** — HPO: HP:0001028
- **Convulsão** — HPO: HP:0001250
- **Apatia** — HPO: HP:0000741
- **Limitação da mobilidade articular** — HPO: HP:0001376
- **Fraqueza muscular** — HPO: HP:0001324
- **Ataxia** — HPO: HP:0001251
- **Lipossarcoma** — HPO: HP:0012034
- **Anormalidade do membro superior** — HPO: HP:0002817
- **Sarcoma de tecido mole** — HPO: HP:0030448
- **Morfologia anormal do peritônio** — HPO: HP:0002585
- _...e mais 63 sintomas. Ver https://raras.org/doenca/sarcoma-de-tecidos-moles._

## Genes associados (41)

- **FOXO1** — Forkhead box protein O1 [Disease-causing germline mutation(s) in]
  - Função: Transcription factor that is the main target of insulin signaling and regulates metabolic homeostasis in response to oxidative stress (PubMed:10358076, PubMed:12228231, PubMed:15220471, PubMed:1589067
- **NTRK3** — NT-3 growth factor receptor [Candidate gene tested in]
  - Função: Receptor tyrosine kinase involved in nervous system and probably heart development. Upon binding of its ligand NTF3/neurotrophin-3, NTRK3 autophosphorylates and activates different signaling pathways,
- **FLI1** — Friend leukemia integration 1 transcription factor [Candidate gene tested in]
  - Função: Sequence-specific transcriptional activator (PubMed:24100448, PubMed:26316623, PubMed:28255014). Recognizes the DNA sequence 5'-C[CA]GGAAGT-3'
- **CDK4** — Cyclin-dependent kinase 4 [Candidate gene tested in]
  - Função: Ser/Thr-kinase component of cyclin D-CDK4 (DC) complexes that phosphorylate and inhibit members of the retinoblastoma (RB) protein family including RB1 and regulate the cell-cycle during G(1)/S transi
- **ETV6** — Transcription factor ETV6 [Candidate gene tested in]
  - Função: Transcriptional repressor; binds to the DNA sequence 5'-CCGGAAGT-3'. Plays a role in hematopoiesis and malignant transformation
- **SMARCA5** — SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 5 [Candidate gene tested in]
  - Função: ATPase that possesses intrinsic ATP-dependent nucleosome-remodeling activity (PubMed:12972596, PubMed:28801535). Catalytic subunit of ISWI chromatin-remodeling complexes, which form ordered nucleosome
- **TFG** — Protein TFG [Candidate gene tested in]
  - Função: Plays a role in the normal dynamic function of the endoplasmic reticulum (ER) and its associated microtubules (PubMed:23479643, PubMed:27813252). Required for secretory cargo traffic from the endoplas
- **HTRA1** — Serine protease HTRA1 [Candidate gene tested in]
  - Função: Serine protease with a variety of targets, including extracellular matrix proteins such as fibronectin. HTRA1-generated fibronectin fragments further induce synovial cells to up-regulate MMP1 and MMP3
- **SMARCA4** — SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 4 [Candidate gene tested in]
  - Função: ATPase involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that c
- **HMGA2** — High mobility group protein HMGI-C [Candidate gene tested in]
  - Função: Functions as a transcriptional regulator. Functions in cell cycle regulation through CCNA2. Plays an important role in chromosome condensation during the meiotic G2/M transition of spermatocytes. Play
- **MDM2** — E3 ubiquitin-protein ligase Mdm2 [Candidate gene tested in]
  - Função: E3 ubiquitin-protein ligase that mediates ubiquitination of p53/TP53, leading to its degradation by the proteasome (PubMed:29681526). Inhibits p53/TP53- and p73/TP73-mediated cell cycle arrest and apo
- **WT1** — Wilms tumor protein [Candidate gene tested in]
  - Função: Transcription factor that plays an important role in cellular development and cell survival (PubMed:7862533). Recognizes and binds to the DNA sequence 5'-GCG(T/G)GGGCG-3' (PubMed:17716689, PubMed:2525
- **PDGFB** — Platelet-derived growth factor subunit B [Candidate gene tested in]
  - Função: Growth factor that plays an essential role in the regulation of embryonic development, cell proliferation, cell migration, survival and chemotaxis. Potent mitogen for cells of mesenchymal origin (PubM
- **COL1A1** — Collagen alpha-1(I) chain [Candidate gene tested in]
  - Função: Type I collagen is a member of group I collagen (fibrillar forming collagen)
- **DDIT3** — DDIT3 upstream open reading frame protein [Candidate gene tested in]
  - Função: Product of the upstream open reading frame (uORF) of DDIT3/CHOP that is specifically produced in absence of stress, thereby preventing translation of downstream stress effector DDIT3/CHOP

## Ensaios clínicos ativos (16)

- **NCT06975293** [RECRUITING]: STC-15 as a Part of Combination Therapy With Toripalimab in Selected Advanced Cancers and as Monotherapy in Participants With Selected Sarcomas — https://clinicaltrials.gov/study/NCT06975293
- **NCT07261631** [RECRUITING]: Phase I Study of [177Lu]Lu-DFC413 in Patients With Solid Tumors — https://clinicaltrials.gov/study/NCT07261631
- **NCT05712694** [RECRUITING]: Study of ADI-PEG 20 or Placebo Plus Gem and Doc in Previously Treated Subjects With Leiomyosarcoma (ARGSARC) — https://clinicaltrials.gov/study/NCT05712694
- **NCT02390752** [RECRUITING]: Phase I Trial of TURALIO(R) (Pexidartinib, PLX3397) in Children and Young Adults With Refractory Leukemias and Refractory Solid Tumors Including Neurofibromatosis Type 1 (NF1) Associated Plexiform Neurofibromas (PN) and Tenosynovial Giant Cell Tumor ... — https://clinicaltrials.gov/study/NCT02390752
- **NCT01109394** [RECRUITING]: Comprehensive Omics Analysis of Pediatric and Adult Solid Tumors and Establishment of a Repository for Related Biological Studies — https://clinicaltrials.gov/study/NCT01109394
- **NCT06066138** [RECRUITING]: A Study of Therapeutic Drug Monitoring-Based Atezolizumab Dosing — https://clinicaltrials.gov/study/NCT06066138
- **NCT07283731** [RECRUITING]: Phase 2 Trial of Zanzalintinib and Pembrolizumab in Select Subtypes of Advanced/Metastatic Soft-tissue Sarcoma — https://clinicaltrials.gov/study/NCT07283731
- **NCT05917301** [RECRUITING]: Pre-operative Hypofractionated Proton Therapy — https://clinicaltrials.gov/study/NCT05917301
- **NCT07402577** [RECRUITING]: Brief Title Mechanisms of Cancer-Related Pain and Opioid Use Among Adolescents and Young Adult Sarcoma Survivors: Pilot Feasibility Study — https://clinicaltrials.gov/study/NCT07402577
- **NCT07528079** [ENROLLING_BY_INVITATION]: Organoid-based Sensitivity-guided Chemotherapy for Advanced / Refractory Pediatric Tumors — https://clinicaltrials.gov/study/NCT07528079

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- [Angiosarcoma](https://raras.org/doenca/angiosarcoma) — ORPHA:263413 — 27 sintomas em comum
- [Linfoma não-Hodgkin de células B](https://raras.org/doenca/linfoma-nao-hodgkin-de-celulas-b) — ORPHA:171915 — 26 sintomas em comum
- [Sarcoma de Kaposi](https://raras.org/doenca/sarcoma-de-kaposi) — ORPHA:33276 — 26 sintomas em comum
- [Lúpus eritematoso sistêmico](https://raras.org/doenca/lupus-eritematoso-sistemico) — ORPHA:536 — 24 sintomas em comum

## Importante

O Raras **não diagnostica e não prescreve**. Esta página é educativa e informativa.
Pacientes devem consultar profissionais de saúde qualificados para decisões clínicas.

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