# Tumor hipofisário

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

## Identificadores

- **ORPHA**: 304055 — https://www.orpha.net/en/disease/detail/304055
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Um tumor na glândula hipófise (também conhecida como pituitária), que pode ser benigno (não canceroso) ou maligno (canceroso). A grande maioria são adenomas, tumores geralmente benignos que se desenvolvem na parte da frente dessa glândula.

## Epidemiologia e herança


## Sinais e sintomas (249 fenótipos HPO)

- **Hiperpigmentação generalizada** — HPO: HP:0007440
- **Sela túrcica grande** — HPO: HP:0002690
- **Hiperpigmentação intraoral** — HPO: HP:0010284
- **Hiperplasia adrenal** — HPO: HP:0008221
- **Amiotrofia proximal** — HPO: HP:0007126
- **Fraqueza muscular** — HPO: HP:0001324
- **Acne** — HPO: HP:0001061
- **Demência** — HPO: HP:0000726
- **Psicose** — HPO: HP:0000709
- **Úlcera cutânea** — HPO: HP:0200042
- **Libido anormal** — HPO: HP:0031845
- **Ideação suicida** — HPO: HP:0031589
- **Rubor** — HPO: HP:0031284
- **Infecções fúngicas cutâneas recorrentes** — HPO: HP:0011370
- **Cabelo esparso no couro cabeludo** — HPO: HP:0002209
- **Anormalidade do sistema respiratório** — HPO: HP:0002086
- **Infarto do miocárdio** — HPO: HP:0001658
- **Aumento paradoxal da secreção de cortisol no teste de supressão por dexametasona** — HPO: HP:0003466
- **Obesidade troncular** — HPO: HP:0001956
- **Ovários policísticos aumentados** — HPO: HP:0008675
- **Puberdade precoce isosexual** — HPO: HP:0008236
- **Maturação esquelética atrasada** — HPO: HP:0002750
- **Trombose venosa profunda** — HPO: HP:0002625
- **Nível anormal de prolactina** — HPO: HP:0040086
- **Macroorquidismo** — HPO: HP:0000053
- **Teste de campo visual anormal** — HPO: HP:0030588
- **Hipertireoxinemia eutireoidiana** — HPO: HP:0008247
- **Paresia hipocalêmica periódica** — HPO: HP:0008153
- **Derrame pericárdico** — HPO: HP:0001698
- **Palpitações** — HPO: HP:0001962
- **Perda de peso** — HPO: HP:0001824
- **Anormalidade dos pelos sexuais secundários** — HPO: HP:0009888
- **Oligozoospermia** — HPO: HP:0000798
- **Fisiologia muscular anormal** — HPO: HP:0011804
- **Rinorreia de líquido cefalorraquidiano** — HPO: HP:0030998
- **Macroorquidismo pós-puberal** — HPO: HP:0002050
- **Pan-hipopituitarismo** — HPO: HP:0000871
- **Crise tireoidiana** — HPO: HP:0011782
- **Tremor** — HPO: HP:0001337
- **Hipertireoidismo** — HPO: HP:0000836
- _...e mais 209 sintomas. Ver https://raras.org/doenca/tumor-hipofisario._

## Genes associados (11)

- **GNAS** — Protein ALEX [Disease-causing germline mutation(s) in]
  - Função: May inhibit the adenylyl cyclase-stimulating activity of guanine nucleotide-binding protein G(s) subunit alpha which is produced from the same locus in a different open reading frame
- **USP48** — Ubiquitin carboxyl-terminal hydrolase 48 [Candidate gene tested in]
  - Função: Deubiquitinase that recognizes and hydrolyzes the peptide bond at the C-terminal Gly of ubiquitin. Involved in the processing of polyubiquitin precursors as well as that of ubiquitinated proteins (Pub
- **BRAF** — Serine/threonine-protein kinase B-raf [Candidate gene tested in]
  - Função: Protein kinase involved in the transduction of mitogenic signals from the cell membrane to the nucleus (Probable). Phosphorylates MAP2K1, and thereby activates the MAP kinase signal transduction pathw
- **NR3C1** — Glucocorticoid receptor [Candidate gene tested in]
  - Função: Receptor for glucocorticoids (GC) (PubMed:27120390, PubMed:37478846). Has a dual mode of action: as a transcription factor that binds to glucocorticoid response elements (GRE), both for nuclear and mi
- **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
- **ATRX** — Transcriptional regulator ATRX [Candidate gene tested in]
  - Função: Involved in transcriptional regulation and chromatin remodeling. Facilitates DNA replication in multiple cellular environments and is required for efficient replication of a subset of genomic loci. Bi
- **CDH23** — Cadherin-23 [Candidate gene tested in]
  - Função: Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells. CDH23 is required for establishing and/or maintaining t
- **MEN1** — Menin [Candidate gene tested in]
  - Função: Essential component of a MLL/SET1 histone methyltransferase (HMT) complex, a complex that specifically methylates 'Lys-4' of histone H3 (H3K4). Functions as a transcriptional regulator. Binds to the T
- **USP8** — Ubiquitin carboxyl-terminal hydrolase 8 [Disease-causing germline mutation(s) in]
  - Função: Hydrolase that can remove conjugated ubiquitin from proteins and therefore plays an important regulatory role at the level of protein turnover by preventing degradation. Converts both 'Lys-48' an 'Lys
- **GPR101** — Probable G-protein coupled receptor 101 [Disease-causing germline mutation(s) in]
  - Função: Orphan receptor
- **AIP** — Small ribosomal subunit protein bS22, mitochondrial [Disease-causing germline mutation(s) in]
  - Função: May act as a negative regulator of Aurora-A kinase, by down-regulation through proteasome-dependent degradation

## Medicamentos em desenvolvimento (11)

- CABERGOLINE — Fase Phase 3 (Dopamine D2 receptor agonist)
- LANREOTIDE — Fase Phase 3 (Somatostatin receptor 5 agonist)
- FARLETUZUMAB — Fase Phase 2 (Folate receptor alpha inhibitor)
- PASIREOTIDE — Fase Phase 2 (Somatostatin receptor 5 agonist)
- DEXMEDETOMIDINE — Fase Phase 2 (Adrenergic receptor alpha-2 agonist)
- ONZIGOLIDE — Fase Phase 2 (Somatostatin receptor 2 agonist)
- LAPATINIB — Fase Phase 2 (Receptor protein-tyrosine kinase erbB-2 inhibitor)
- IPILIMUMAB — Fase Phase 2 (Cytotoxic T-lymphocyte protein 4 inhibitor)
- NIVOLUMAB — Fase Phase 2 (Programmed cell death protein 1 inhibitor)
- OCTREOTIDE ACETATE — Fase Phase 2 (Somatostatin receptor agonist)
- Fonte: https://platform.opentargets.org/disease/MONDO_0017611

## Ensaios clínicos ativos (8)

- **NCT00599092** [RECRUITING]: Pituitary Tumor Surveillance: Pathogenic Correlation — https://clinicaltrials.gov/study/NCT00599092
- **NCT06353529** [RECRUITING]: Postop Pain Management in Pituitary Tumour Patients — https://clinicaltrials.gov/study/NCT06353529
- **NCT06295952** [RECRUITING]: A Study of Pasireotide in People With Prolactinoma — https://clinicaltrials.gov/study/NCT06295952
- **NCT05139277** [RECRUITING]: Evaluation of the CONVIVO System — https://clinicaltrials.gov/study/NCT05139277
- **NCT04087902** [RECRUITING]: Long-Term Longitudinal QoL in Patients Undergoing EEA — https://clinicaltrials.gov/study/NCT04087902
- **NCT06936813** [ACTIVE_NOT_RECRUITING]: The PROMISE Survey — https://clinicaltrials.gov/study/NCT06936813
- **NCT04042753** [ACTIVE_NOT_RECRUITING]: Nivolumab and Ipilimumab in People With Aggressive Pituitary Tumors — https://clinicaltrials.gov/study/NCT04042753
- **NCT06266949** [NOT_YET_RECRUITING]: Perimetry Based on Eye-movements in Patients With (Supra)Sellar Tumors — https://clinicaltrials.gov/study/NCT06266949
- **NCT04106531** [TERMINATED]: Validation of a Quality of Life Metric "Prolac-10" — https://clinicaltrials.gov/study/NCT04106531
- **NCT03927183** [COMPLETED]: Extended Support for Persons With Pituitary Tumours After Surgery — https://clinicaltrials.gov/study/NCT03927183

## Doenças relacionadas (por similaridade fenotípica)

- [Adenoma hipofisário isolado familiar](https://raras.org/doenca/adenoma-hipofisario-isolado-familiar) — ORPHA:314777 — 132 sintomas em comum
- [Síndrome Cushing endógena](https://raras.org/doenca/sindrome-cushing-endogena) — ORPHA:641613 — 84 sintomas em comum
- [Síndrome Cushing dependente de ACTH](https://raras.org/doenca/sindrome-cushing-dependente-de-acth) — ORPHA:99892 — 80 sintomas em comum
- [Doença Cushing](https://raras.org/doenca/doenca-cushing) — ORPHA:96253 — 77 sintomas em comum
- [Acromegalia](https://raras.org/doenca/acromegalia) — ORPHA:963 — 67 sintomas em comum
- [Adenoma hipofisário secretor de TSH](https://raras.org/doenca/adenoma-hipofisario-secretor-de-tsh) — ORPHA:91347 — 66 sintomas em comum
- [Síndrome Cushing por secreção ectópica de ACTH](https://raras.org/doenca/sindrome-cushing-por-secrecao-ectopica-de-acth) — ORPHA:99889 — 61 sintomas em comum
- [Adenoma hipofisário funcional misto](https://raras.org/doenca/adenoma-hipofisario-funcional-misto) — ORPHA:314759 — 60 sintomas em comum
- [Somatomamotropinoma](https://raras.org/doenca/somatomamotropinoma) — ORPHA:314769 — 60 sintomas em comum
- [Adenoma hipofisário não-secretor](https://raras.org/doenca/adenoma-hipofisario-nao-secretor) — ORPHA:91349 — 58 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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