# Tumor endócrino enteropancreático

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

## Identificadores

- **ORPHA**: 100092 — https://www.orpha.net/en/disease/detail/100092
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Neoplasia com diferenciação neuroendócrina proveniente do sistema digestivo. Inclui tumores neuroendócrinos (tumores endócrinos bem diferenciados ou tumores carcinoides e carcinomas endócrinos bem diferenciados) e carcinomas neuroendócrinos (carcinomas neuroendócrinos pouco diferenciados, carcinomas de pequenas células e carcinomas neuroendócrinos de grandes células).

## Epidemiologia e herança


## Sinais e sintomas (171 fenótipos HPO)

- **Obstrução intestinal** — HPO: HP:0005214
- **Insônia** — HPO: HP:0100785
- **Fadiga** — HPO: HP:0012378
- **Hipoglicemia reativa** — HPO: HP:0012051
- **Anormalidade da função mental superior** — HPO: HP:0011446
- **Anormalidade da sensação de dor** — HPO: HP:0010832
- **Amnésia global transitória** — HPO: HP:0010534
- **Hiperinsulinemia de jejum** — HPO: HP:0008283
- **Morfologia anormal das células das ilhotas pancreáticas** — HPO: HP:0006476
- **Consciência/confusão reduzida** — HPO: HP:0004372
- **Sono REM anormal** — HPO: HP:0002494
- **Hipoglicemia recorrente** — HPO: HP:0001988
- **Hipoglicemia não cetótica** — HPO: HP:0001958
- **Bolhas anormais na pele** — HPO: HP:0008066
- **Tumores benignos do trato gastrointestinal** — HPO: HP:0006719
- **Calcitonina elevada** — HPO: HP:0003528
- **Estomatite** — HPO: HP:0010280
- **Ganglioneuroma** — HPO: HP:0003005
- **Diarreia secretora** — HPO: HP:0005208
- **Hipocalemia** — HPO: HP:0002900
- **Carcinoma medular de tireoide** — HPO: HP:0002865
- **Diabetes mellitus** — HPO: HP:0000819
- **Flutuações na consciência** — HPO: HP:0007159
- **Adenoma de células produtoras de prolactina hipofisárias** — HPO: HP:0006767
- **Anormalidade da visão** — HPO: HP:0000504
- **Disfunção da vesícula biliar** — HPO: HP:0005609
- **Nível elevado de antígeno carcinoembrionário** — HPO: HP:0031029
- **Fístula intestinal** — HPO: HP:0100819
- **Linfadenopatia** — HPO: HP:0002716
- **Vômitos episódicos** — HPO: HP:0002572
- **Colestase intra-hepática com icterícia episódica** — HPO: HP:0006575
- **Suores noturnos** — HPO: HP:0030166
- **Estenose pulmonar** — HPO: HP:0001642
- **Edema** — HPO: HP:0000969
- **Paraganglioma** — HPO: HP:0002668
- **Anemia ferropriva** — HPO: HP:0001891
- **Alfa-fetoproteína elevada** — HPO: HP:0006254
- **Hidronefrose** — HPO: HP:0000126
- **Oclusão arterial** — HPO: HP:0025324
- **Obstrução intestinal funcional** — HPO: HP:0005249
- _...e mais 131 sintomas. Ver https://raras.org/doenca/tumor-endocrino-enteropancreatico._

## Genes associados (5)

- **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
- **YY1** — Transcriptional repressor protein YY1 [Candidate gene tested in]
  - Função: Multifunctional transcription factor that exhibits positive and negative control on a large number of cellular and viral genes by binding to sites overlapping the transcription start site (PubMed:1532
- **ATP4A** — Potassium-transporting ATPase alpha chain 1 [Candidate gene tested in]
  - Função: The catalytic subunit of the gastric H(+)/K(+) ATPase pump which transports H(+) ions in exchange for K(+) ions across the apical membrane of parietal cells. Uses ATP as an energy source to pump H(+)
- **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
- **IPMK** — Inositol polyphosphate multikinase [Candidate gene tested in]
  - Função: Inositol phosphate kinase with a broad substrate specificity (PubMed:12027805, PubMed:12223481, PubMed:28882892, PubMed:30420721, PubMed:30624931). Phosphorylates inositol 1,4,5-trisphosphate (Ins(1,4

## Medicamentos em desenvolvimento (7)

- EVEROLIMUS — Fase Phase 4 (FK506-binding protein 1A inhibitor)
- BELZUTIFAN — Fase Phase 4 (Endothelial PAS domain-containing protein 1 inhibitor)
- SUNITINIB — Fase Phase 4 (Vascular endothelial growth factor receptor inhibitor)
- DIAZOXIDE — Fase Phase 4 (Potassium channel, inwardly rectifying, subfamily J, member 11 opener)
- SUNITINIB MALATE — Fase Phase 3 (Platelet-derived growth factor receptor inhibitor)
- SOMATOSTATIN — Fase Phase 3 (Somatostatin receptor agonist)
- OCTREOTIDE — Fase Phase 3 (Somatostatin receptor agonist)
- Fonte: https://platform.opentargets.org/disease/MONDO_0024503

## Ensaios clínicos ativos (8)

- **NCT06202066** [RECRUITING]: Temozolomide and Survivin Long Peptide Vaccine (SurVaxM) for the Treatment of Patients With Progressing Metastatic Neuroendocrine Carcinomas — https://clinicaltrials.gov/study/NCT06202066
- **NCT07150546** [RECRUITING]: Combination External Radiation and PRRT for Large GI Neuroendocrine Tumors. — https://clinicaltrials.gov/study/NCT07150546
- **NCT06016855** [RECRUITING]: Surgical Debulking Prior to Peptide Receptor Radionuclide Therapy in Well Differentiated Gastroenteropancreatic Neuroendocrine Tumors — https://clinicaltrials.gov/study/NCT06016855
- **NCT03375320** [ACTIVE_NOT_RECRUITING]: Testing Cabozantinib in Patients With Advanced Pancreatic Neuroendocrine and Carcinoid Tumors — https://clinicaltrials.gov/study/NCT03375320
- **NCT03950609** [ACTIVE_NOT_RECRUITING]: Lenvatinib and Everolimus in Treating Patients With Advanced, Unresectable Carcinoid Tumors — https://clinicaltrials.gov/study/NCT03950609
- **NCT03891784** [ACTIVE_NOT_RECRUITING]: Abemaciclib in Treating Patients With Advanced, Refractory, and Unresectable Digestive System Neuroendocrine Tumors — https://clinicaltrials.gov/study/NCT03891784
- **NCT04234568** [ACTIVE_NOT_RECRUITING]: Testing the Addition of an Anti-cancer Drug, Triapine, to the Usual Radiation-Based Treatment (Lutetium Lu 177 Dotatate) for Neuroendocrine Tumors — https://clinicaltrials.gov/study/NCT04234568
- **NCT05262556** [ACTIVE_NOT_RECRUITING]: NP-101 (TQ Formula) With Nivolumab and Ipilimumab in Advanced or Metastatic Extra-pulmonary Neuroendocrine Carcinomas — https://clinicaltrials.gov/study/NCT05262556
- **NCT05987176** [TERMINATED]: Comparison of Adjuvant Treatment With 177Lu-DOTATATE to Best Supportive Care in Patients After Resection of Neuroendocrine Liver Metastases — https://clinicaltrials.gov/study/NCT05987176
- **NCT05582031** [WITHDRAWN]: Regorafenib With Tislelizumab in Patients With Selected Mismatch Repair-Proficient/Microsatellite Stable Cancers — https://clinicaltrials.gov/study/NCT05582031

## Doenças relacionadas (por similaridade fenotípica)

- [Tumor pancreático endócrino](https://raras.org/doenca/tumor-pancreatico-endocrino) — ORPHA:97253 — 100 sintomas em comum
- [Neoplasia neuroendócrina do pâncreas](https://raras.org/doenca/506052) — ORPHA:506052 — 100 sintomas em comum
- [Neoplasias endócrinas múltiplas](https://raras.org/doenca/neoplasias-endocrinas-multiplas) — ORPHA:100094 — 52 sintomas em comum
- [NÃO RARA NA EUROPA: Câncer colorretal](https://raras.org/doenca/nao-rara-na-europa-cancer-colorretal) — ORPHA:466667 — 44 sintomas em comum
- [Carcinoma do fígado e trato biliar intra-hepático](https://raras.org/doenca/424936) — ORPHA:424936 — 44 sintomas em comum
- [Neoplasia endócrina múltipla](https://raras.org/doenca/neoplasia-endocrina-multipla) — ORPHA:276161 — 44 sintomas em comum
- [Tumor endócrino do cólon](https://raras.org/doenca/tumor-endocrino-do-colon) — ORPHA:100080 — 42 sintomas em comum
- [Glucagonoma](https://raras.org/doenca/glucagonoma) — ORPHA:97280 — 42 sintomas em comum
- [VIPoma](https://raras.org/doenca/vipoma) — ORPHA:97282 — 41 sintomas em comum
- [GRFoma](https://raras.org/doenca/grfoma) — ORPHA:97261 — 38 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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