# Rabdomiossarcoma, alveolar

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

## Identificadores

- **ORPHA**: 99756 — https://www.orpha.net/en/disease/detail/99756
- **CID-10**: C49.9
- **OMIM**: OMIM:268220 — https://omim.org/entry/268220

## Descrição clínica

É um tipo de câncer que cresce rapidamente e se forma em tecidos como músculos, gordura ou ossos. Ele é caracterizado pela presença de células arredondadas com características de células musculares e por um tecido de suporte com vasos sanguíneos e fibras, que lembra um padrão de pequenos "sacos" ou "bolhas". Geralmente, esse tumor surge nos braços e nas pernas.

## Epidemiologia e herança

- **Prevalência**: <1 / 1 000 000
- **Padrão de herança**: Multigenic/multifactorial

## Sinais e sintomas (2 fenótipos HPO)

- **Rabdomiossarcoma alveolar** — HPO: HP:0006779
- **HP:0001442** — HPO: HP:0001442

## Genes associados (5)

- **PAX3** — Paired box protein Pax-3 [Part of a fusion gene 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 [Disease-causing somatic mutation(s) 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 [Disease-causing germline mutation(s) 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
- **FOXO1** — Forkhead box protein O1 [Part of a fusion gene 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 [Part of a fusion gene in]
  - Função: Transcription factor that is involved in the regulation of muscle stem cells proliferation, playing a role in myogenesis and muscle regeneration

## Ensaios clínicos ativos (6)

- **NCT05304585** [RECRUITING]: Chemotherapy for the Treatment of Patients With Newly Diagnosed Very Low-Risk and Low Risk Fusion Negative Rhabdomyosarcoma — https://clinicaltrials.gov/study/NCT05304585
- **NCT06669013** [RECRUITING]: Chemo-immunotherapy in Patients Under 18 Years of Age With Bone and Soft Tissue Sarcomas — https://clinicaltrials.gov/study/NCT06669013
- **NCT02567435** [ACTIVE_NOT_RECRUITING]: Combination Chemotherapy With or Without Temsirolimus in Treating Patients With Intermediate Risk Rhabdomyosarcoma — https://clinicaltrials.gov/study/NCT02567435
- **NCT04994132** [ACTIVE_NOT_RECRUITING]: A Study to Compare Early Use of Vinorelbine and Maintenance Therapy for Patients With High Risk Rhabdomyosarcoma — https://clinicaltrials.gov/study/NCT04994132
- **NCT03296371** [ACTIVE_NOT_RECRUITING]: Genetic Mutational Analysis of Saliva or Buccal Mucosa Samples From Patients With Embryonal or Alveolar Rhabdomyosarcoma — https://clinicaltrials.gov/study/NCT03296371
- **NCT05071209** [ACTIVE_NOT_RECRUITING]: Elimusertib for the Treatment of Relapsed or Refractory Solid Tumors — https://clinicaltrials.gov/study/NCT05071209
- **NCT01524926** [COMPLETED]: CREATE: Cross-tumoral Phase 2 With Crizotinib — https://clinicaltrials.gov/study/NCT01524926
- **NCT00354835** [COMPLETED]: Combination Chemotherapy and Radiation Therapy in Treating Patients With Newly Diagnosed Rhabdomyosarcoma — https://clinicaltrials.gov/study/NCT00354835
- **NCT03041701** [TERMINATED]: Insulin-like Growth Factor 1 Receptor (IGF-1R) Antibody AMG479 (Ganitumab) in Combination With the Src Family Kinase (SFK) Inhibitor Dasatinib in People With Embryonal and Alveolar Rhabdomyosarcoma — https://clinicaltrials.gov/study/NCT03041701
- **NCT02748135** [COMPLETED]: A Study of TB-403 in Pediatric Subjects With Relapsed or Refractory Medulloblastoma — https://clinicaltrials.gov/study/NCT02748135

## Doenças relacionadas (por similaridade fenotípica)

- [Sarcoma de tecidos moles](https://raras.org/doenca/sarcoma-de-tecidos-moles) — ORPHA:3394 — 1 sintomas em comum
- [Rabdomiossarcoma](https://raras.org/doenca/rabdomiossarcoma) — ORPHA:780 — 1 sintomas em comum
- [Bócio multinodular familiar](https://raras.org/doenca/bocio-multinodular-familiar) — ORPHA:276399 — 1 sintomas em comum
- [Mielofibrose com metaplasia mieloide](https://raras.org/doenca/824) — ORPHA:824 — 1 sintomas em comum
- [Síndromes mielodisplásicos](https://raras.org/doenca/sindromes-mielodisplasicos) — ORPHA:52688 — 1 sintomas em comum
- [Meduloblastoma](https://raras.org/doenca/meduloblastoma) — ORPHA:616 — 1 sintomas em comum
- [Sarcoma de Ewing](https://raras.org/doenca/sarcoma-de-ewing) — ORPHA:319 — 1 sintomas em comum
- [Síndrome Proteus](https://raras.org/doenca/sindrome-proteus) — ORPHA:744 — 1 sintomas em comum
- [Síndrome mielodisplásica associada a anomalia cromossômica 5q isolada](https://raras.org/doenca/sindrome-mielodisplasica-associada-a-anomalia-cromossomica-5q-isolada) — ORPHA:86841 — 1 sintomas em comum
- [Carcinoma hepatocelular](https://raras.org/doenca/carcinoma-hepatocelular) — ORPHA:88673 — 1 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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