# Rabdomiossarcoma

> Página oficial: https://raras.org/doenca/rabdomiossarcoma
> Fonte: Raras.org — Banco de Dados de Doenças Raras em Português (CC BY-NC-SA 4.0)
> Última atualização: 2026-05-08

## Identificadores

- **ORPHA**: 780 — https://www.orpha.net/en/disease/detail/780
- **CID-10**: C49.9
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

É um tipo raro e agressivo de câncer que se forma nos músculos. Geralmente afeta crianças e jovens adultos. Apenas uma pequena porcentagem desses tumores surge nos músculos dos braços e pernas. A maioria se desenvolve em outras partes do corpo.

## Epidemiologia e herança

- **Prevalência**: Unknown
- **Padrão de herança**: Multigenic/multifactorial

## Sinais e sintomas (9 fenótipos HPO)

- **Rabdomiossarcoma embrionário** — HPO: HP:0006743
- **Início na idade adulta** — HPO: HP:0003581
- **Tecoma ovariano** — HPO: HP:0030983
- **Blastoma pleuropulmonar** — HPO: HP:0100528
- **Bócio multinodular** — HPO: HP:0005987
- **Nódulo tireoidiano** — HPO: HP:0025388
- **Bócio** — HPO: HP:0000853
- **Nefroblastoma** — HPO: HP:0002667
- **Rabdomiossarcoma alveolar** — HPO: HP:0006779

## Genes associados (7)

- **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
- **PAX7** — Paired box protein Pax-7 [Disease-causing germline mutation(s) in]
  - Função: Transcription factor that is involved in the regulation of muscle stem cells proliferation, playing a role in myogenesis and muscle regeneration
- **DICER1** — Endoribonuclease Dicer [Disease-causing germline mutation(s) in]
  - Função: Double-stranded RNA (dsRNA) endoribonuclease playing a central role in short dsRNA-mediated post-transcriptional gene silencing. Cleaves naturally occurring long dsRNAs and short hairpin pre-microRNAs
- **SLC67A1** — Solute carrier family 67 member A1 [Disease-causing germline mutation(s) in]
  - Função: May act as a transporter of organic cations based on a proton efflux antiport mechanism. May play a role in the transport of chloroquine and quinidine-related compounds in kidney (PubMed:9744804). Pla
- **PAX3** — Paired box protein Pax-3 [Disease-causing germline mutation(s) in]
  - Função: Transcription factor that may regulate cell proliferation, migration and apoptosis. Involved in neural development and myogenesis. Transcriptional activator of MITF, acting synergistically with SOX10
- **NF1** — Neurofibromin [Candidate gene tested in]
  - Função: Stimulates the GTPase activity of Ras. NF1 shows greater affinity for Ras GAP, but lower specific activity. May be a regulator of Ras activity
- **TP53** — Cellular tumor antigen p53 [Candidate gene tested in]
  - Função: Multifunctional transcription factor that induces cell cycle arrest, DNA repair or apoptosis upon binding to its target DNA sequence (PubMed:11025664, PubMed:12524540, PubMed:12810724, PubMed:15186775

## Ensaios clínicos ativos (36)

- **NCT06796543** [RECRUITING]: Targeted Oligometastatic Radiation in Pediatric and Young Adult Patients With Soft Tissue and Bone Sarcoma — https://clinicaltrials.gov/study/NCT06796543
- **NCT04796012** [RECRUITING]: VITAS: Atezolizumab in Combination With Chemotherapy for Pediatric Relapsed/Refractory Solid Tumors — https://clinicaltrials.gov/study/NCT04796012
- **NCT04897321** [RECRUITING]: B7-H3-Specific Chimeric Antigen Receptor Autologous T-Cell Therapy for Pediatric Patients With Solid Tumors (3CAR) — https://clinicaltrials.gov/study/NCT04897321
- **NCT06721689** [RECRUITING]: PEEL-224, Vincristine and Temozolomide in Pediatric Solid Tumors — https://clinicaltrials.gov/study/NCT06721689
- **NCT04308330** [RECRUITING]: Vorinostat in Combination With Chemotherapy in Relapsed/Refractory Solid Tumors and CNS Malignancies — https://clinicaltrials.gov/study/NCT04308330
- **NCT04901702** [RECRUITING]: Study of Onivyde With Talazoparib or Temozolomide in Children With Recurrent Solid Tumors and Ewing Sarcoma — https://clinicaltrials.gov/study/NCT04901702
- **NCT06541262** [RECRUITING]: Silmitasertib (CX-4945) in Combination With Chemotherapy for Relapsed Refractory Solid Tumors — https://clinicaltrials.gov/study/NCT06541262
- **NCT04715191** [RECRUITING]: Interleukin-15 and -21 Armored Glypican-3-specific Chimeric Antigen Receptor Expressed in T Cells for Pediatric Solid Tumors — https://clinicaltrials.gov/study/NCT04715191
- **NCT05108298** [RECRUITING]: Improving Adolescent and Young Adult Self-Reported Data in ECOG-ACRIN Trials — https://clinicaltrials.gov/study/NCT05108298
- **NCT06865664** [RECRUITING]: FGFR4 Chimeric Antigen Receptor (CAR) T Cells in Children and Young Adults With Recurrent or Refractory Rhabdomyosarcoma — https://clinicaltrials.gov/study/NCT06865664

## Doenças relacionadas (por similaridade fenotípica)

- [Sarcoma de tecidos moles](https://raras.org/doenca/sarcoma-de-tecidos-moles) — ORPHA:3394 — 9 sintomas em comum
- [Síndrome aneuploidia variada em mosaico](https://raras.org/doenca/sindrome-aneuploidia-variada-em-mosaico) — ORPHA:1052 — 3 sintomas em comum
- [Síndrome de predisposição tumoral DICER1](https://raras.org/doenca/sindrome-de-predisposicao-tumoral-dicer1) — ORPHA:284343 — 3 sintomas em comum
- [Bócio multinodular familiar](https://raras.org/doenca/bocio-multinodular-familiar) — ORPHA:276399 — 3 sintomas em comum
- [Rabdomiossarcoma, embrionário](https://raras.org/doenca/rabdomiossarcoma-embrionario) — ORPHA:99757 — 2 sintomas em comum
- [Hipotireoidismo congênito](https://raras.org/doenca/hipotireoidismo-congenito) — ORPHA:442 — 2 sintomas em comum
- [Tumor tireoidiano raro](https://raras.org/doenca/tumor-tireoidiano-raro) — ORPHA:100087 — 2 sintomas em comum
- [Nefroblastoma](https://raras.org/doenca/nefroblastoma) — ORPHA:654 — 2 sintomas em comum
- [Neoplasia endócrina múltipla, tipo 2A](https://raras.org/doenca/neoplasia-endocrina-multipla-tipo-2a) — ORPHA:247698 — 2 sintomas em comum
- [Hipotireoidismo congênito permanente](https://raras.org/doenca/hipotireoidismo-congenito-permanente) — ORPHA:226292 — 2 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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