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Tumor pancreático endócrino
ORPHA:97253DOENÇA RARA

O tumor endócrino do pâncreas, também conhecido como tumor neuroendócrino de pâncreas (TNEP), descreve um grupo de tumores que se originam no pâncreas. Geralmente, eles crescem devagar e são benignos (não cancerosos), mas podem ter a chance de se tornarem malignos (cancerosos). Esses tumores podem ser funcionais, o que significa que produzem hormônios em excesso e causam síndromes com sintomas específicos. No entanto, também podem ser não funcionais, não produzindo hormônios em excesso, e se manifestar com sintomas mais gerais e menos específicos. Entre os tipos de TNEP estão o insulinoma, glucagonoma, VIPoma, somatostatinoma (SSoma), PPoma e a síndrome de Zollinger-Ellison (SZE, ou gastrinoma), além de outros tumores que produzem hormônios em locais incomuns (como o GRFoma).

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Introdução

O que você precisa saber de cara

📋

O tumor endócrino do pâncreas, também conhecido como tumor neuroendócrino de pâncreas (TNEP), descreve um grupo de tumores que se originam no pâncreas. Geralmente, eles crescem devagar e são benignos (não cancerosos), mas podem ter a chance de se tornarem malignos (cancerosos). Esses tumores podem ser funcionais, o que significa que produzem hormônios em excesso e causam síndromes com sintomas específicos. No entanto, também podem ser não funcionais, não produzindo hormônios em excesso, e se manifestar com sintomas mais gerais e menos específicos. Entre os tipos de TNEP estão o insulinoma, glucagonoma, VIPoma, somatostatinoma (SSoma), PPoma e a síndrome de Zollinger-Ellison (SZE, ou gastrinoma), além de outros tumores que produzem hormônios em locais incomuns (como o GRFoma).

Pesquisas ativas
32 ensaios
122 total registrados no ClinicalTrials.gov
Publicações científicas
17 artigos
Último publicado: 2025 Jun

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
1-9 / 100 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
2.69
Japan
Início
Adult
🏥
SUS: Sem cobertura SUSScore: 0%
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🫃
Digestivo
20 sintomas
📏
Crescimento
18 sintomas
🧠
Neurológico
8 sintomas
🧬
Pele e cabelo
3 sintomas
🫘
Rins
3 sintomas
💪
Músculos
3 sintomas

+ 37 sintomas em outras categorias

Características mais comuns

Diarreia
Insônia
Fadiga
Hipoglicemia reativa
Anormalidade da função mental superior
Anormalidade da sensação de dor
100sintomas
Sem dados (100)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 100 características clínicas mais associadas, ordenadas por frequência.

DiarreiaDiarrhea
InsôniaInsomnia
FadigaFatigue
Hipoglicemia reativaReactive hypoglycemia
Anormalidade da função mental superiorAbnormality of higher mental function

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2025
Total histórico17PubMed
Últimos 10 anos13publicações
Pico20212 papers
Linha do tempo
2025Hoje · 2026🧪 1994Primeiro ensaio clínico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

2 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Not applicable.

MEN1MeninCandidate gene tested inAltamente restrito
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 TERT promoter and represses telomerase expression. Plays a role in TGFB1-mediated inhibition of cell-proliferation, possibly regulating SMAD3 transcriptional activity. Represses JUND-mediated transcriptional activation on AP1 sites, as well as that mediated by NFKB subunit RELA. Positively regulates

LOCALIZAÇÃO

Nucleus

VIAS BIOLÓGICAS (4)
SMAD2/SMAD3:SMAD4 heterotrimer regulates transcriptionDeactivation of the beta-catenin transactivating complexFormation of the beta-catenin:TCF transactivating complexFormation of WDR5-containing histone-modifying complexes
MECANISMO DE DOENÇA

Familial multiple endocrine neoplasia type I

Autosomal dominant disorder characterized by tumors of the parathyroid glands, gastro-intestinal endocrine tissue, the anterior pituitary and other tissues. Cutaneous lesions and nervous-tissue tumors can exist. Prognosis in MEN1 patients is related to hormonal hypersecretion by tumors, such as hypergastrinemia causing severe peptic ulcer disease (Zollinger-Ellison syndrome, ZES), primary hyperparathyroidism, and acute forms of hyperinsulinemia.

EXPRESSÃO TECIDUAL(Ubíquo)
Cerebelo
45.1 TPM
Tireoide
43.2 TPM
Cérebro - Hemisfério cerebelar
40.2 TPM
Fibroblastos
37.9 TPM
Baço
35.0 TPM
OUTRAS DOENÇAS (7)
multiple endocrine neoplasia type 1pituitary gigantismnull pituitary adenomaprolactin-producing pituitary gland adenoma
HGNC:7010UniProt:O00255
YY1Transcriptional repressor protein YY1Candidate gene tested inAltamente restrito
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:15329343, PubMed:17721549, PubMed:24326773, PubMed:25787250). Binds to the consensus sequence 5'-CCGCCATNTT-3'; some genes have been shown to contain a longer binding motif allowing enhanced binding; the initial CG dinucleotide can be methylated greatly reducing the binding affinity (PubMed:15329343, Pu

LOCALIZAÇÃO

Nucleus matrix

VIAS BIOLÓGICAS (5)
Estrogen-dependent gene expressionDNA Damage Recognition in GG-NERUCH proteinasesTFAP2 (AP-2) family regulates transcription of growth factors and their receptorsActivation of anterior HOX genes in hindbrain development during early embryogenesis
MECANISMO DE DOENÇA

Gabriele-de Vries syndrome

An autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development and intellectual disability. Most patients have behavioral and feeding problems, movement abnormalities, mild distal skeletal anomalies, and dysmorphic facial features.

EXPRESSÃO TECIDUAL(Ubíquo)
Tireoide
55.4 TPM
Artéria tibial
44.1 TPM
Cérebro - Hemisfério cerebelar
44.1 TPM
Útero
39.6 TPM
Nervo tibial
38.5 TPM
OUTRAS DOENÇAS (2)
Gabriele de Vries syndromepancreatic insulin-producing neuroendocrine tumor
HGNC:12856UniProt:P25490

Variantes genéticas (ClinVar)

973 variantes patogênicas registradas no ClinVar.

🧬 MEN1: NM_001370259.2(MEN1):c.1186-1G>C ()
🧬 MEN1: NM_001370259.2(MEN1):c.767T>G (p.Leu256Arg) ()
🧬 MEN1: NM_001370259.2(MEN1):c.1009G>A (p.Ala337Thr) ()
🧬 MEN1: NM_001370259.2(MEN1):c.478dup (p.Ala160fs) ()
🧬 MEN1: NM_001370259.2(MEN1):c.361dup (p.Val121fs) ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 6 variantes classificadas pelo ClinVar.

6
Patogênica (100.0%)
VARIANTES MAIS SIGNIFICATIVAS
PALB2: NM_024675.4(PALB2):c.778C>T (p.Gln260Ter) [Pathogenic]
BRCA2: NM_000059.4(BRCA2):c.3504G>T (p.Met1168Ile) [Conflicting classifications of pathogenicity]
MEN1: NM_001370259.2(MEN1):c.783+1G>A [Pathogenic]
TP53: NM_000546.6(TP53):c.818G>T (p.Arg273Leu) [Pathogenic]
BRCA2: NM_000059.4(BRCA2):c.994dup (p.Ile332fs) [Pathogenic]

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

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Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
Aprovado1
3Fase 32
2Fase 24
1Fase 14
·Pré-clínico9
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 20 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Tumor pancreático endócrino

🗺️

Selecione um estado ou use sua localização para ver resultados.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

🟢 Recrutando agora

20 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

NCT05687123 · Testing the Addition of Sunitinib Malate to Lutetium Lu 177 …Recrutando
PHASE1
NCT06943755 · Zanzalintinib Versus Everolimus in Participants With Locally…Recrutando
PHASE2, PHASE3
NCT07165132 · Study of RYZ401 in Subjects With Solid Tumors Expressing SST…Recrutando
PHASE1
NCT04924075 · Belzutifan/MK-6482 for the Treatment of Advanced Pheochromoc…Recrutando
PHASE2
NCT06141369 · Treatment of Advanced Endocrine Tumor With Iindividualized m…Recrutando
NA
NCT05477576 · Study of RYZ101 Compared With SOC in Pts w Inoperable SSTR+ …Recrutando
PHASE3
NCT05847855 · Plasma cfDNA Fragmentomics for Early pNET Detection and Diff…Recrutando
NCT04119024 · Gene Modified Immune Cells After Conditioning Regimen for th…Recrutando
PHASE1
NCT05988918 · Multicenter Trial of ESK981 in Patients With Select Solid Tu…Recrutando
PHASE2
NCT07439757 · AI-Powered Precision Decision-Making for Pancreatic DiseasesRecrutando
NCT07273409 · Pancreatic Neuroendocrine Tumour - Optimal Surgical Debulkin…Recrutando
NA
NCT07328607 · Outcomes After Laparoscopic Versus Open Pancreaticoduodenect…Recrutando
NA
NCT06663072 · Study to Test the Combination of Fulvestrant With Lu-DOTATAT…Recrutando
PHASE1
NCT06016855 · Surgical Debulking Prior to Peptide Receptor Radionuclide Th…Recrutando
PHASE4
NCT05040360 · Testing the Use of Chemotherapy After Surgery for High-Risk …Recrutando
PHASE2
NCT04520932 · Pancreatic Radiofrequency Under High Echo-endoscopy in the M…Recrutando
NA
NCT06121622 · Development of New Personalised 3D Preclinical Models of Pan…Recrutando
NCT05037461 · Precision Radiotherapy Using MR-linac for Pancreatic Neuroen…Recrutando
NA
NCT06041009 · Pancreatic Cancer Screening Through the Detection of Elastas…Recrutando
NCT06505395 · A Trial to Assess Efficacy, Safety, Pharmacokinetics of Octr…Recrutando
PHASE2

Outros ensaios clínicos

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Publicações mais relevantes

Timeline de publicações
13 papers (10 anos)
#1

Metastatic synovial sarcoma masquerading as primary neuroendocrine tumor of pancreas: a diagnostic conundrum.

Clinical journal of gastroenterology2025 Jun

Metastatic sarcomas to the pancreas are extremely rare, with poor survival rates. Therefore, rapid diagnosis and differentiation from primary malignant tumors of pancreas thereby guiding the treatment is indispensable. Endoscopic ultrasound-guided fine needle biopsy (EUS-FNB) is the current diagnostic modality of choice for pancreatic tumor sampling with promising results. Definitive pathologic diagnosis requires adequate tissue for performing ancillary studies. We present a rare case of metastatic synovial sarcoma in the pancreas in an elderly male to endorse the utility of EUS-FNB with imprint cytology as a rapid and effective diagnostic tool.

#2

Adrenaline bolus rescue for refractory carcinoid crises during surgical manipulation of metastatic neuroendocrine tumor of pancreas: A case report.

Saudi journal of anaesthesia2024

Carcinoid crisis is a potentially fatal condition with severe hemodynamic instability. A 25-year-old female with metastatic pancreatic neuroendocrine tumor with recurrent carcinoid crises was posted for surgical debulking. Intraoperatively, the patient was on crisis during manipulation of the lesion by the surgeon, which was unresponsive to octreotide, infusions of phenylephrine, and norepinephrine agents. The patient was then effectively managed with adrenaline blouses at 10 µg along with infusion of adrenaline. Use of inotropes and vasopressors is not encouraged in carcinoid due to release of inflammatory mediators which can precipitate the hemodynamic instability. Here, we managed her with adrenaline boluses and infusion.

#3

Categorizing Malignant Small Round Cell Tumors in Aspiration Cytology: An Institutional Experience.

Journal of microscopy and ultrastructure2024

The study aims to categorize malignant small round cell tumors (MSRCTs) originating in various sites of the body with the objective of utilization of cytomorphological features and ancillary techniques. It is a cross-sectional study conducted over a time span of 3 years (2017-2020). 33 cases of tumors with round cell morphology were evaluated by fine needle aspiration cytology (FNAC). The application of cell block preparation supported by immunohistochemistry aided in the categorization of 23 cases with definite diagnosis and the rest were reported as MSRCTs. Among the categorized 23/33 cases, the most common diagnosis was Ewing's sarcoma (7/23) followed by 6 cases of lymphoma. There were 2 cases each of rhabdomyosarcoma and Langerhans cell histiocytosis (LCH) and 1 case each of neuroblastoma, desmoplastic small round cell tumor (DSRCT), myeloid sarcoma, neuroendocrine tumor of pancreas, plasmacytoma, and small cell carcinoma. Histopathology confirmation was available in 24/33 cases. Among the categorized tumors (23/33), biopsy correlation was available in 19 cases, of which concordant result was seen in 17 cases (89.47%), which were 6 cases of lymphoma, 5 cases of Ewing's sarcoma (EWS), 2 of rhabdomyosarcoma, and 1 each of neuroblastoma, small cell carcinoma, DSRCT, and LCH. Discordant result was seen in one case of rhabdomyosarcoma and a case of synovial sarcoma reported as extraskeletal EWS in cytology. Out of the uncategorized cases reported as MSRTCs, histopathology was available in 5 cases which were diagnosed as rhabdomyosarcoma (1 cases), lymphoma (1 case), amelanotic melanoma (1 case), and extraskeletal EWS (2 cases). Categorization of MSRCTs should be done to implement appropriate therapeutic protocol. FNAC provides a rapid diagnosis contributing immensely for the timely management of the patient. Detailed cytomorphological evaluation serves as a guide for further evaluation by ancillary techniques leading to definitive diagnosis.

#4

Autoimmune Pancreatitis Mimicking Neuroendocrine Tumor of Pancreas.

Digestive diseases and sciences2023 Sep
#5

Familial MEN1 Syndrome Diagnosed on Functional Imaging: A Case Report with Clinical and Genetic Correlation.

World journal of nuclear medicine2023 Dec

Multiple endocrine neoplasia, type 1 (MEN1) syndrome is an autosomal dominant disease characterized by tumors involving parathyroid, pituitary, and pancreas. The diagnosis is mostly clinical and by the presence of MEN1 gene mutation. We present a case with initial presentation of neuroendocrine tumor of pancreas whose ancillary findings on 68 Ga-DOTATATE positron emission tomography-computed tomography helped in raising suspicion of MEN1, which was confirmed on genetic testing and family history. We emphasize the importance of using gestalt approach in such cases to avoid misdiagnosis or delay. Additionally, we describe the clinical profile of affected family members with their MEN1 gene mutation status, highlighting the gestalt approach again to uncover the unknowns.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC7 artigos no totalmostrando 13

2025

Metastatic synovial sarcoma masquerading as primary neuroendocrine tumor of pancreas: a diagnostic conundrum.

Clinical journal of gastroenterology
2024

Adrenaline bolus rescue for refractory carcinoid crises during surgical manipulation of metastatic neuroendocrine tumor of pancreas: A case report.

Saudi journal of anaesthesia
2023

Familial MEN1 Syndrome Diagnosed on Functional Imaging: A Case Report with Clinical and Genetic Correlation.

World journal of nuclear medicine
2023

Autoimmune Pancreatitis Mimicking Neuroendocrine Tumor of Pancreas.

Digestive diseases and sciences
2024

Categorizing Malignant Small Round Cell Tumors in Aspiration Cytology: An Institutional Experience.

Journal of microscopy and ultrastructure
2022

CT-based differentiation of solid pseudopapillary neoplasm and nonfunctional neuroendocrine tumor of pancreas.

Diagnostic and interventional radiology (Ankara, Turkey)
2022

Fate of Surgical Patients with Small Nonfunctioning Pancreatic Neuroendocrine Tumors: An International Study Using Multi-Institutional Registries.

Cancers
2021

Identification of a VHL gene mutation in atypical Von Hippel-Lindau syndrome: genotype-phenotype correlation and gene therapy perspective.

Cancer cell international
2021

Preoperative stenting in insulinoma located nearby pancreatic duct: a case report and literature review.

Journal of surgical case reports
2018

Late onset of biliopleural fistula following percutaneous transhepatic biliary drainage: a case report.

BioMedicine
2017

Chronic Cancer Pain: Diagnostic Dilemma and Management Challenges.

Indian journal of palliative care
2016

Clear cell neuroendocrine tumor of pancreas: Endoscopic Ultrasound-guided fine needle aspiration diagnosis of an uncommon variant.

CytoJournal
2015

Pancreatic fine-needle aspiration cytopathology: an analysis of the CAP NGC program for pancreatic FNA 2003-2011.

Journal of the American Society of Cytopathology

Associações

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Comunidades

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. Metastatic synovial sarcoma masquerading as primary neuroendocrine tumor of pancreas: a diagnostic conundrum.
    Clinical journal of gastroenterology· 2025· PMID 40102350mais citado
  2. Adrenaline bolus rescue for refractory carcinoid crises during surgical manipulation of metastatic neuroendocrine tumor of pancreas: A case report.
    Saudi journal of anaesthesia· 2024· PMID 39600460mais citado
  3. Categorizing Malignant Small Round Cell Tumors in Aspiration Cytology: An Institutional Experience.
    Journal of microscopy and ultrastructure· 2024· PMID 38633566mais citado
  4. Autoimmune Pancreatitis Mimicking Neuroendocrine Tumor of Pancreas.
    Digestive diseases and sciences· 2023· PMID 37526904mais citado
  5. Familial MEN1 Syndrome Diagnosed on Functional Imaging: A Case Report with Clinical and Genetic Correlation.
    World journal of nuclear medicine· 2023· PMID 38152096mais citado

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:97253(Orphanet)
  2. MONDO:0019954(MONDO)
  3. GARD:13034(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. Artigo Wikipedia(Wikipedia)
  7. Q6084258(Wikidata)

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Tumor pancreático endócrino
Compêndio · Raras BR

Tumor pancreático endócrino

ORPHA:97253 · MONDO:0019954
Prevalência
1-9 / 100 000
Herança
Autosomal dominant, Not applicable
Ensaios
32 ativos
Início
Adult
Prevalência
2.69 (Japan)
MedGen
UMLS
C1328479
EuropePMC
Wikidata
Wikipedia
Papers 10a
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