# Carcinoma da vesícula biliar

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

## Identificadores

- **ORPHA**: 56044 — https://www.orpha.net/en/disease/detail/56044
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

O carcinoma da vesícula biliar (CGB) é a forma mais comum e agressiva de câncer do trato biliar (CBT), geralmente surgindo no fundo da vesícula biliar, metastatizando rapidamente para gânglios linfáticos e locais distantes.

## Epidemiologia e herança

- **Prevalência**: 1-5 / 10 000
- **Padrão de herança**: Not applicable

## Sinais e sintomas (14 fenótipos HPO)

- **Icterícia** — HPO: HP:0000952
- **Colestase extra-hepática** — HPO: HP:0012334
- **Dor abdominal** — HPO: HP:0002027
- **Neoplasia do trato biliar** — HPO: HP:0100574
- **Anorexia** — HPO: HP:0002039
- **Linfadenopatia** — HPO: HP:0002716
- **Colangiocarcinoma** — HPO: HP:0030153
- **Perda de peso** — HPO: HP:0001824
- **Hepatomegalia** — HPO: HP:0002240
- **Febre** — HPO: HP:0001945
- **Trombose venosa** — HPO: HP:0004936
- **Prurido** — HPO: HP:0000989
- **Fadiga** — HPO: HP:0012378
- **Fezes acólicas** — HPO: HP:0011985

## Genes associados (4)

- **BRCA1** — Breast cancer type 1 susceptibility protein [Candidate gene tested in]
  - Função: E3 ubiquitin-protein ligase that specifically mediates the formation of 'Lys-6'-linked polyubiquitin chains and plays a central role in DNA repair by facilitating cellular responses to DNA damage (Pub
- **BRCA2** — Breast cancer type 2 susceptibility protein [Candidate gene tested in]
  - Função: Involved in double-strand break repair and/or homologous recombination. Binds RAD51 and potentiates recombinational DNA repair by promoting assembly of RAD51 onto single-stranded DNA (ssDNA). Acts by
- **ROS1** — Proto-oncogene tyrosine-protein kinase ROS [Candidate gene tested in]
  - Função: Receptor tyrosine kinase (RTK) that plays a role in epithelial cell differentiation and regionalization of the proximal epididymal epithelium. NELL2 is an endogenous ligand for ROS1. Upon endogenous s
- **PTPN3** — Tyrosine-protein phosphatase non-receptor type 3 [Candidate gene tested in]
  - Função: May act at junctions between the membrane and the cytoskeleton. Possesses tyrosine phosphatase activity

## Medicamentos em desenvolvimento (10)

- INFIGRATINIB PHOSPHATE — Fase Phase 4 (Fibroblast growth factor receptor inhibitor)
- FUTIBATINIB — Fase Phase 4 (Fibroblast growth factor receptor inhibitor)
- PEMIGATINIB — Fase Phase 4 (Fibroblast growth factor receptor 2 inhibitor)
- LENVATINIB — Fase Phase 3 (Vascular endothelial growth factor receptor inhibitor)
- GIMERACIL — Fase Phase 3 (Dihydropyrimidine dehydrogenase inhibitor)
- INFIGRATINIB — Fase Phase 3 (Fibroblast growth factor receptor inhibitor)
- TEGAFUR — Fase Phase 3 (Thymidylate synthase inhibitor)
- IVOSIDENIB — Fase Phase 3 (Isocitrate dehydrogenase [NADP] cytoplasmic inhibitor)
- TISLELIZUMAB — Fase Phase 3 (Programmed cell death protein 1 inhibitor)
- GEMCITABINE — Fase Phase 3 (DNA polymerase (alpha/delta/epsilon) inhibitor)
- Fonte: https://platform.opentargets.org/disease/MONDO_0018918

## Ensaios clínicos ativos (5)

- **NCT02834013** [ACTIVE_NOT_RECRUITING]: Nivolumab and Ipilimumab in Treating Patients With Rare Tumors — https://clinicaltrials.gov/study/NCT02834013
- **NCT06282575** [RECRUITING]: Efficacy and Safety of Zanidatamab With Standard-of-care Therapy Against Standard-of-care Therapy for Advanced HER2-positive Biliary Tract Cancer — https://clinicaltrials.gov/study/NCT06282575
- **NCT07454486** [NOT_YET_RECRUITING]: TRACE-BTC. Relation of Biomarkers and Patients Reported Quality of Life to Outcomes in Patients With Biliary Tract Cancer: a Real- World Cohort — https://clinicaltrials.gov/study/NCT07454486
- **NCT07334119** [RECRUITING]: Safety, Pharmacokinetics, Pharmacodynamics and Preliminary Efficacy of MT-304 in Adults With Advanced HER2-Expressing Solid Tumors — https://clinicaltrials.gov/study/NCT07334119
- **NCT07265674** [RECRUITING]: A Study to Select a Dose Regimen (Part A) and to Investigate Overall Survival (Part B) With Nanvuranlat Compared With Physician's Best Choice in Participants Aged 18 Years or Older With Biliary Tract Cancer — https://clinicaltrials.gov/study/NCT07265674

## Doenças relacionadas (por similaridade fenotípica)

- [Colangiocarcinoma](https://raras.org/doenca/colangiocarcinoma) — ORPHA:70567 — 14 sintomas em comum
- [Adenocarcinoma da vesícula biliar e do trato biliar extra-hepático](https://raras.org/doenca/424991) — ORPHA:424991 — 14 sintomas em comum
- [Carcinoma do fígado e trato biliar intra-hepático](https://raras.org/doenca/424936) — ORPHA:424936 — 14 sintomas em comum
- [Colangiocarcinoma peri-hilar](https://raras.org/doenca/colangiocarcinoma-peri-hilar) — ORPHA:99978 — 10 sintomas em comum
- [Alteração do metabolismo e excreção de bilirrubina](https://raras.org/doenca/alteracao-do-metabolismo-e-excrecao-de-bilirrubina) — ORPHA:309816 — 9 sintomas em comum
- [Doença mieloproliferativa crônica](https://raras.org/doenca/doenca-mieloproliferativa-cronica) — ORPHA:98274 — 9 sintomas em comum
- [Colangite esclerosante](https://raras.org/doenca/colangite-esclerosante) — ORPHA:447771 — 9 sintomas em comum
- [Tumor endócrino enteropancreático](https://raras.org/doenca/tumor-endocrino-enteropancreatico) — ORPHA:100092 — 9 sintomas em comum
- [Colestase intra-hepática familiar](https://raras.org/doenca/colestase-intra-hepatica-familiar) — ORPHA:284385 — 9 sintomas em comum
- [Hemopatia mieloide](https://raras.org/doenca/hemopatia-mieloide) — ORPHA:171895 — 9 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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**Citação sugerida**: Raras.org — Carcinoma da vesícula biliar. Disponível em: https://raras.org/doenca/carcinoma-da-vesicula-biliar
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**Formato RDF/Turtle**: https://raras.org/api/rdf?orpha=56044