# Carcinoma hepatocelular

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

## Identificadores

- **ORPHA**: 88673 — https://www.orpha.net/en/disease/detail/88673
- **CID-10**: C22.0
- **OMIM**: OMIM:114550 — https://omim.org/entry/114550

## Descrição clínica

É um câncer que surge nas células do fígado. Esse tipo de câncer de fígado é relativamente raro nos Estados Unidos, mas muito comum em todos os países da África ao sul do Saara e no Sudeste Asiático. A maioria dos casos é vista em pessoas com mais de 50 anos, mas esse tumor também pode ocorrer em indivíduos mais jovens e até em crianças. É mais comum em homens do que em mulheres e está associado à hepatite B, hepatite C, ao uso abusivo e crônico de álcool e à cirrose (uma doença grave do fígado). Um aumento nos níveis de alfa-fetoproteína no sangue ocorre em uma grande porcentagem dos pacientes com carcinoma hepatocelular.  Quando visto a olho nu, o carcinoma hepatocelular pode se apresentar como uma única massa, como múltiplos nódulos (caroços) ou como um envolvimento mais espalhado e difuso no fígado. Ao microscópio, as células dos tumores variam bastante em sua diferenciação (ou seja, o quanto elas se parecem com as células normais do fígado, indo de 'bem diferenciadas' a 'pouco diferenciadas'). Os carcinomas hepatocelulares rapidamente se espalham (formam metástases) para os gânglios linfáticos próximos e para o pulmão.  O tempo médio de sobrevida para o câncer de fígado não tratado é de cerca de 4 meses. O tratamento mais eficaz para o carcinoma hepatocelular é a remoção completa do tumor por cirurgia. Recentemente, um número crescente de tumores tem sido tratado com transplante de fígado.

## Epidemiologia e herança

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

## Sinais e sintomas (14 fenótipos HPO)

- **Carcinoma hepatocelular** — HPO: HP:0001402
- **Hepatite viral progressiva subaguda** — HPO: HP:0006572
- **Dor abdominal** — HPO: HP:0002027
- **Início na idade adulta** — HPO: HP:0003581
- **Dor epigástrica** — HPO: HP:0410019
- **Vômitos** — HPO: HP:0002013
- **Fadiga** — HPO: HP:0012378
- **Cirrose micronodular** — HPO: HP:0001413
- **Trombose da veia porta** — HPO: HP:0030242
- **Hepatomegalia** — HPO: HP:0002240
- **Fibrose hepática** — HPO: HP:0001395
- **Alfa-fetoproteína elevada** — HPO: HP:0006254
- **Necrose hepática** — HPO: HP:0002605
- **HP:0001442** — HPO: HP:0001442

## Genes associados (14)

- **CTNNB1** — Catenin beta-1 [Disease-causing germline mutation(s) in]
  - Função: Key downstream component of the canonical Wnt signaling pathway (PubMed:17524503, PubMed:18077326, PubMed:18086858, PubMed:18957423, PubMed:21262353, PubMed:22155184, PubMed:22647378, PubMed:22699938)
- **MET** — Hepatocyte growth factor receptor [Disease-causing germline mutation(s) in]
  - Função: Receptor tyrosine kinase that transduces signals from the extracellular matrix into the cytoplasm by binding to hepatocyte growth factor/HGF ligand. Regulates many physiological processes including pr
- **DNAJB1** — DnaJ homolog subfamily B member 1 [Candidate gene tested in]
  - Função: Interacts with HSP70 and can stimulate its ATPase activity. Acts also with TTC1 as a chaperone adapter that regulates HSP70-dependent folding process by interacting with the HSP70 amino terminal regio
- **TSC2** — Tuberin [Candidate gene tested in]
  - Função: Catalytic component of the TSC-TBC complex, a multiprotein complex that acts as a negative regulator of the canonical mTORC1 complex, an evolutionarily conserved central nutrient sensor that stimulate
- **IGF2R** — Cation-independent mannose-6-phosphate receptor [Disease-causing germline mutation(s) in]
  - Função: Mediates the transport of phosphorylated lysosomal enzymes from the Golgi complex and the cell surface to lysosomes (PubMed:18817523, PubMed:2963003). Lysosomal enzymes bearing phosphomannosyl residue
- **TSC1** — Hamartin [Candidate gene tested in]
  - Função: Non-catalytic component of the TSC-TBC complex, a multiprotein complex that acts as a negative regulator of the canonical mTORC1 complex, an evolutionarily conserved central nutrient sensor that stimu
- **APC** — Adenomatous polyposis coli protein [Disease-causing germline mutation(s) in]
  - Função: Tumor suppressor. Promotes rapid degradation of CTNNB1 and participates in Wnt signaling as a negative regulator. APC activity is correlated with its phosphorylation state. Activates the GEF activity
- **CASP8** — Caspase-8 [Disease-causing germline mutation(s) in]
  - Função: Thiol protease that plays a key role in programmed cell death by acting as a molecular switch for apoptosis, necroptosis and pyroptosis, and is required to prevent tissue damage during embryonic devel
- **AXIN1** — Axin-1 [Disease-causing germline mutation(s) in]
  - Função: Component of the beta-catenin destruction complex required for regulating CTNNB1 levels through phosphorylation and ubiquitination, and modulating Wnt-signaling (PubMed:12192039, PubMed:27098453, PubM
- **EGF** — Pro-epidermal growth factor [Candidate gene tested in]
  - Função: EGF stimulates the growth of various epidermal and epithelial tissues in vivo and in vitro and of some fibroblasts in cell culture. Magnesiotropic hormone that stimulates magnesium reabsorption in the
- **PDGFRL** — Platelet-derived growth factor receptor-like protein [Disease-causing germline mutation(s) in]
- **PRKACA** — cAMP-dependent protein kinase catalytic subunit alpha [Candidate gene tested in]
  - Função: Phosphorylates a large number of substrates in the cytoplasm and the nucleus (PubMed:15642694, PubMed:15905176, PubMed:16387847, PubMed:17333334, PubMed:17565987, PubMed:17693412, PubMed:18836454, Pub
- **PIK3CA** — Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform [Disease-causing germline mutation(s) in]
  - Função: Phosphoinositide-3-kinase (PI3K) phosphorylates phosphatidylinositol (PI) and its phosphorylated derivatives at position 3 of the inositol ring to produce 3-phosphoinositides (PubMed:15135396, PubMed:
- **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

## Ensaios clínicos ativos (34)

- **NCT07538882** [RECRUITING]: AI-Assisted Staging and Treatment Decision-Making for Hepatocellular Carcinoma — https://clinicaltrials.gov/study/NCT07538882
- **NCT05208762** [RECRUITING]: A Study of PF-08046054/SGN-PDL1V in Advanced Solid Tumors — https://clinicaltrials.gov/study/NCT05208762
- **NCT03942328** [RECRUITING]: Modified Immune Cells (Autologous Dendritic Cells) and a Vaccine (Prevnar) Combined With Immune Checkpoint Inhibition After High-Dose External Beam Radiation Therapy in Treating Patients With Unresectable Liver Cancer — https://clinicaltrials.gov/study/NCT03942328
- **NCT05969860** [RECRUITING]: At-Home Cancer Directed Therapy Versus in Clinic for the Treatment of Patients With Advanced Cancer — https://clinicaltrials.gov/study/NCT05969860
- **NCT02174549** [RECRUITING]: Dose-defining Study of Tirapazamine Combined With Embolization in Liver Cancer — https://clinicaltrials.gov/study/NCT02174549
- **NCT07227012** [RECRUITING]: Symbiotic-GI-13: A Study to Learn About Study Medicine Called PF-08634404 as a Single Treatment and Combination Treatment in Adult Participants With a Liver Cancer Called Hepatocellular Carcinoma, That is Too Advanced to be Removed by Surgery and May Have Spread to Other Parts of the Body. — https://clinicaltrials.gov/study/NCT07227012
- **NCT06066138** [RECRUITING]: A Study of Therapeutic Drug Monitoring-Based Atezolizumab Dosing — https://clinicaltrials.gov/study/NCT06066138
- **NCT05775159** [RECRUITING]: Study of Novel Immunomodulators as Monotherapy and in Combination With Anticancer Agents in Participants With Advanced Hepatobiliary Cancer — https://clinicaltrials.gov/study/NCT05775159
- **NCT06427941** [RECRUITING]: A Phase 1 Study of BGB-B2033, Alone or in Combination With Tislelizumab With or Without Bevacizumab, in Participants With Advanced or Metastatic Solid Tumors — https://clinicaltrials.gov/study/NCT06427941
- **NCT03259867** [RECRUITING]: Combination of TATE and PD-1 Inhibitor in Liver Cancer — https://clinicaltrials.gov/study/NCT03259867

## Doenças relacionadas (por similaridade fenotípica)

- [Carcinoma do fígado e trato biliar intra-hepático](https://raras.org/doenca/424936) — ORPHA:424936 — 13 sintomas em comum
- [Carcinoma hepatocelular pediátrico](https://raras.org/doenca/carcinoma-hepatocelular-pediatrico) — ORPHA:33402 — 9 sintomas em comum
- [Colestase intra-hepática familiar](https://raras.org/doenca/colestase-intra-hepatica-familiar) — ORPHA:284385 — 8 sintomas em comum
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- [Alteração do metabolismo e transporte de ferro](https://raras.org/doenca/alteracao-do-metabolismo-e-transporte-de-ferro) — ORPHA:309842 — 6 sintomas em comum
- [Citrulinemia](https://raras.org/doenca/citrulinemia) — ORPHA:187 — 6 sintomas em comum
- [Colestase intra-hepática progressiva familiar](https://raras.org/doenca/colestase-intra-hepatica-progressiva-familiar) — ORPHA:172 — 6 sintomas em comum
- [Neuro-hepatopatia de Navajo](https://raras.org/doenca/neuro-hepatopatia-de-navajo) — ORPHA:255229 — 5 sintomas em comum
- [NÃO RARA NA EUROPA: Câncer colorretal](https://raras.org/doenca/nao-rara-na-europa-cancer-colorretal) — ORPHA:466667 — 5 sintomas em comum
- [Deficiência de citrina](https://raras.org/doenca/deficiencia-de-citrina) — ORPHA:247582 — 5 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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