# Tumor teratoide, atípico

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

## Identificadores

- **ORPHA**: 99966 — https://www.orpha.net/en/disease/detail/99966
- **CID-10**: C49.9
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

O ATRT (tumor rabdoide teratoide atípico) é um tumor rabdoide (TR) muito agressivo do sistema nervoso central (SNC), que afeta quase exclusivamente crianças.

## Epidemiologia e herança

- **Prevalência**: Unknown
- **Padrão de herança**: Not applicable

## Sinais e sintomas (18 fenótipos HPO)

- **Tumor teratoide/rabdoide atípico** — HPO: HP:0034401
- **Tumor rabdoide do rim** — HPO: HP:0034402
- **Ataxia** — HPO: HP:0001251 (Frequente (79-30%))
- **Fraqueza muscular** — HPO: HP:0001324 (Frequente (79-30%))
- **Limitação da mobilidade articular** — HPO: HP:0001376 (Frequente (79-30%))
- **Irritabilidade** — HPO: HP:0000737 (Muito frequente (99-80%))
- **Apatia** — HPO: HP:0000741 (Muito frequente (99-80%))
- **Convulsão** — HPO: HP:0001250 (Frequente (79-30%))
- **Hidrocefalia** — HPO: HP:0000238 (Frequente (79-30%))
- **Macrocefalia** — HPO: HP:0000256 (Frequente (79-30%))
- **Neoplasia maligna do sistema nervoso central** — HPO: HP:0100836 (Muito frequente (99-80%))
- **Enxaqueca** — HPO: HP:0002076 (Frequente (79-30%))
- **Consciência/confusão reduzida** — HPO: HP:0004372 (Frequente (79-30%))
- **Hemiplegia/hemiparesia** — HPO: HP:0004374 (Frequente (79-30%))
- **Paralisia cerebral** — HPO: HP:0100021 (Ocasional (29-5%))
- **Náusea e vômito** — HPO: HP:0002017 (Muito frequente (99-80%))
- **Calcificação cerebral** — HPO: HP:0002514 (Ocasional (29-5%))
- **Paralisia de nervo craniano** — HPO: HP:0006824 (Ocasional (29-5%))

## Genes associados (2)

- **SMARCB1** — SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 [Disease-causing somatic mutation(s) in]
  - Função: Core component of the BAF (hSWI/SNF) complex. This ATP-dependent chromatin-remodeling complex plays important roles in cell proliferation and differentiation, in cellular antiviral activities and inhi
- **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

## Ensaios clínicos ativos (23)

- **NCT04897321** [RECRUITING]: B7-H3-Specific Chimeric Antigen Receptor Autologous T-Cell Therapy for Pediatric Patients With Solid Tumors (3CAR) — https://clinicaltrials.gov/study/NCT04897321
- **NCT06465199** [RECRUITING]: Eflornithine (DFMO) and AMXT 1501 for Neuroblastoma, CNS Tumors, and Sarcomas — https://clinicaltrials.gov/study/NCT06465199
- **NCT04185038** [RECRUITING]: Study of B7-H3-Specific CAR T Cell Locoregional Immunotherapy for Diffuse Intrinsic Pontine Glioma/Diffuse Midline Glioma and Recurrent or Refractory Pediatric Central Nervous System Tumors — https://clinicaltrials.gov/study/NCT04185038
- **NCT06622941** [RECRUITING]: Study to ONO-4538 in Patients With Rhabdoid Tumor — https://clinicaltrials.gov/study/NCT06622941
- **NCT06625190** [RECRUITING]: Alpha/Beta T and B Cell Depletion With Zoledronic Acid for Solid Tumors — https://clinicaltrials.gov/study/NCT06625190
- **NCT06193759** [RECRUITING]: Immunotherapy for Malignant Pediatric Brain Tumors Employing Adoptive Cellular Therapy (IMPACT) — https://clinicaltrials.gov/study/NCT06193759
- **NCT06942039** [RECRUITING]: Pilot Study of IT Topotecan and Maintenance Chemotherapy for HR-EBTs in Children < 6 Years, Post Consolidation — https://clinicaltrials.gov/study/NCT06942039
- **NCT07087002** [RECRUITING]: GPC2-CAR T Cell Therapy for Relapsed or Refractory Medulloblastoma in Children and Young Adults — https://clinicaltrials.gov/study/NCT07087002
- **NCT05835687** [RECRUITING]: Loc3CAR: Locoregional Delivery of B7-H3-CAR T Cells for Pediatric Patients With Primary CNS Tumors — https://clinicaltrials.gov/study/NCT05835687
- **NCT04541082** [RECRUITING]: Phase I Study of Oral ONC206 in Recurrent and Rare Primary Central Nervous System Neoplasms — https://clinicaltrials.gov/study/NCT04541082

## Doenças relacionadas (por similaridade fenotípica)

- [Tumores rabdoides](https://raras.org/doenca/tumores-rabdoides) — ORPHA:69077 — 18 sintomas em comum
- [Sarcoma de tecidos moles](https://raras.org/doenca/sarcoma-de-tecidos-moles) — ORPHA:3394 — 18 sintomas em comum
- [Malformação dos seios durais](https://raras.org/doenca/malformacao-dos-seios-durais) — ORPHA:97339 — 8 sintomas em comum
- [Vasculite mediada por complexos imunes](https://raras.org/doenca/vasculite-mediada-por-complexos-imunes) — ORPHA:156149 — 8 sintomas em comum
- [Doença de Alexander](https://raras.org/doenca/doenca-de-alexander) — ORPHA:58 — 8 sintomas em comum
- [Síndrome CACH](https://raras.org/doenca/sindrome-cach) — ORPHA:135 — 7 sintomas em comum
- [Tumor neuronal-glial misto](https://raras.org/doenca/tumor-neuronal-glial-misto) — ORPHA:251934 — 7 sintomas em comum
- [Doença do metabolismo do folato](https://raras.org/doenca/doenca-do-metabolismo-do-folato) — ORPHA:285657 — 7 sintomas em comum
- [Síndrome de L1](https://raras.org/doenca/sindrome-de-l1) — ORPHA:275543 — 7 sintomas em comum
- [Síndrome Walker-Warburg](https://raras.org/doenca/899) — ORPHA:899 — 6 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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