Raras
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Polipose adenomatosa familiar
ORPHA:733CID-10 · D12.6CID-11 · 2B90.YDOENÇA RARA

A polipose adenomatosa familiar (PAF) é caracterizada pelo desenvolvimento de centenas a milhares de adenomas no reto e cólon durante a segunda década de vida.

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Introdução

O que você precisa saber de cara

📋

A polipose adenomatosa familiar (PAF) é caracterizada pelo desenvolvimento de centenas a milhares de adenomas no reto e cólon durante a segunda década de vida.

Pesquisas ativas
25 ensaios
98 total registrados no ClinicalTrials.gov
Publicações científicas
5.712 artigos
Último publicado: 2026 Mar

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
0.0
Worldwide
Início
Adult
🏥
SUS: Sem cobertura SUSScore: 0%
CID-10: D12.6
Você se identifica com essa condição?
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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

😀
Face
10 sintomas
🫃
Digestivo
10 sintomas
📏
Crescimento
6 sintomas
🧠
Neurológico
5 sintomas
🦴
Ossos e articulações
5 sintomas
🫘
Rins
3 sintomas

+ 22 sintomas em outras categorias

Características mais comuns

90%prev.
Polipose colônica adenomatosa
Muito frequente (99-80%)
90%prev.
Neoplasia do trato gastrointestinal
Muito frequente (99-80%)
90%prev.
Tumores desmoides
Muito frequente (99-80%)
90%prev.
Câncer de cólon
Muito frequente (99-80%)
90%prev.
Hipertrofia congênita do epitélio pigmentar da retina
Muito frequente (99-80%)
90%prev.
Polipose colorretal
Muito frequente (99-80%)
72sintomas
Muito frequente (6)
Frequente (7)
Ocasional (10)
Muito raro (22)
Sem dados (27)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 72 características clínicas mais associadas, ordenadas por frequência.

Polipose colônica adenomatosaAdenomatous colonic polyposis
Muito frequente (99-80%)90%
Neoplasia do trato gastrointestinalNeoplasm of the gastrointestinal tract
Muito frequente (99-80%)90%
Tumores desmoidesDesmoid tumors
Muito frequente (99-80%)90%
Câncer de cólonColon cancer
Muito frequente (99-80%)90%
Hipertrofia congênita do epitélio pigmentar da retinaCongenital hypertrophy of retinal pigment epithelium
Muito frequente (99-80%)90%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico5.712PubMed
Últimos 10 anos200publicações
Pico2025148 papers
Linha do tempo
2026Hoje · 2026🧪 1978Primeiro ensaio clínico📈 2025Ano de pico
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

1 gene identificado com associação a esta condição. Padrão de herança: Autosomal dominant, Autosomal recessive.

APCAdenomatous polyposis coli proteinDisease-causing germline mutation(s) inAltamente restrito
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 of SPATA13 and ARHGEF4. Plays a role in hepatocyte growth factor (HGF)-induced cell migration. Required for MMP9 up-regulation via the JNK signaling pathway in colorectal tumor cells. Associates with both microtubules and actin filaments, components of the cytoskeleton (PubMed:17293347). Plays a rol

LOCALIZAÇÃO

Cell junction, adherens junctionCytoplasm, cytoskeletonCell projection, lamellipodiumCell projection, ruffle membraneCytoplasmCell membrane

VIAS BIOLÓGICAS (3)
Apoptotic cleavage of cellular proteinsDegradation of beta-catenin by the destruction complexSignaling by GSK3beta mutants
MECANISMO DE DOENÇA

Familial adenomatous polyposis 1

An autosomal dominant cancer predisposition syndrome characterized by adenomatous polyps of the colon and rectum, but also of upper gastrointestinal tract (ampullary, duodenal and gastric adenomas). This is a viciously premalignant disease with one or more polyps progressing through dysplasia to malignancy in untreated gene carriers with a median age at diagnosis of 40 years.

OUTRAS DOENÇAS (10)
familial adenomatous polyposis 1gastric cancerhepatocellular carcinomagastric adenocarcinoma and proximal polyposis of the stomach
HGNC:583UniProt:P25054

Variantes genéticas (ClinVar)

13,056 variantes patogênicas registradas no ClinVar.

🧬 APC: NM_000038.6(APC):c.5026_5034delinsGGAGGA (p.Arg1676del) ()
🧬 APC: NM_000038.6(APC):c.5629del (p.Glu1877fs) ()
🧬 APC: NM_000038.6(APC):c.6648C>G (p.Pro2216=) ()
🧬 APC: NC_000005.10:g.112707328A>G ()
🧬 APC: NM_000038.6(APC):c.5921A>G (p.Asp1974Gly) ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 15,889 variantes classificadas pelo ClinVar.

7150
5561
3178
Patogênica (45.0%)
VUS (35.0%)
Benigna (20.0%)
VARIANTES MAIS SIGNIFICATIVAS
APC: NM_000038.6(APC):c.646-1806T>G [Likely pathogenic]
MUTYH: NM_001048174.2(MUTYH):c.1434+286_1434+287del [Pathogenic]
MSH3: NM_002439.5(MSH3):c.1708_1709insA (p.Ser570fs) [Pathogenic]
MUTYH: NM_001048174.2(MUTYH):c.349del (p.Thr116_Val117insTer) [Pathogenic]
MSH3: NM_002439.5(MSH3):c.802del (p.Arg268fs) [Pathogenic]

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

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.
3Fase 32
2Fase 23
1Fase 11
·Pré-clínico14
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 — Polipose adenomatosa familiar

🗺️

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

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

NCT05552755 · Evaluate REC-4881 in Participants With Familial Adenomatous …Recrutando
PHASE1, PHASE2
NCT05630794 · Testing for Safety and Colorectal Cancer Preventive Effects …Recrutando
PHASE1
NCT06557733 · An Investigational Drug (TPST-1495) in Patients With Familia…Recrutando
PHASE2
NCT06950385 · Phase 3 Trial of eRapa in Patients With Familial Adenomatous…Recrutando
PHASE3
NCT07463599 · Safety and Efficacy of Tegavivint in Patients With Metastati…Recrutando
PHASE1, PHASE2
NCT04677998 · A Personalized Surveillance and Intervention Protocol for Du…Recrutando
NCT04678011 · A Personalized Surveillance and Intervention Protocol for Pa…Recrutando
NCT03050268 · Familial Investigations of Childhood Cancer PredispositionRecrutando
NCT06641310 · Trial of Exercise Therapy in Familial Adenomatous Polyp (FAP…Recrutando
NA
NCT02012699 · Integrated Cancer Repository for Cancer ResearchRecrutando
NCT07199127 · Duodenal Polyposis Classification in FAPRecrutando
NCT06578637 · Investigation of β-hydroxybutyrate Supplementation as Chemop…Recrutando
NA
NCT07066046 · Artificial Intelligence-assisted Colonoscopy in the Detectio…Recrutando
NA
NCT06538402 · Ten Versus Fifteen Centimeter Pouch in IPAA SurgeryRecrutando
NA
NCT03471403 · Cold Snare Polypectomy for Duodenal Adenomas in Familial Ade…Recrutando
NCT06614738 · Microbial and Environmental Factors Associated with Polyps D…Recrutando
NCT06545526 · Chemopreventive Effect of Combination of Celecoxib and Metfo…Recrutando
PHASE3
NCT06435533 · Cold Atmospheric Plasma for the Endoscopic Treatment of Duod…Recrutando
NA
NCT06649825 · Efficacy of Vitamin B1 in Familial Adenomatous Polyposis Pat…Por convite
NA

Outros ensaios clínicos

98 ensaios clínicos encontrados, 25 ativos.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

📖Melhor nível de evidência: Revisão
Timeline de publicações
1.852 papers (10 anos)

Mostrando amostra de 200 publicações de um total de 1.852

#1

Longitudinal Surveillance of Gastric Polyposis in Familial Adenomatous Polyposis: Incidence, Progression, and Endoscopic Outcomes.

United European gastroenterology journal2026 Apr

Contrariando a visão tradicional que considerava as manifestações gástricas da Polipose Adenomatosa Familiar (PAF) de limitada relevância, este estudo demonstra que a polipose gástrica é uma condição dinâmica e de alto risco. A carga de pólipos fundicos no estômago proximal aumenta substancialmente com o tempo, elevando significativamente o risco de displasia e adenocarcinoma, que infelizmente apresenta desfechos desfavoráveis. Isso exige uma vigilância endoscópica mais rigorosa e direcionada ao estômago proximal em pacientes com PAF, suportando estratégias de acompanhamento personalizadas e baseadas no fenótipo para prevenir o câncer gástrico.

🇧🇷 traduzido
#2

Molecular and regional characterization of colorectal polyps: insights from proteomics, phosphoproteomics, and immune profiling.

Translational gastroenterology and hepatology2026

Este estudo sobre a Polipose Adenomatosa Familiar (FAP) em crianças revela que os pólipos no lado direito do cólon (proximal) são molecularmente mais agressivos, apresentando maior dano ao DNA, atividade elevada das proteínas ATR e CDK4, e menor vigilância do sistema imunológico, em comparação com os pólipos do lado esquerdo (distal). Para pacientes e médicos, essa heterogeneidade regional sugere que a localização dos pólipos é crucial e pode exigir estratégias de prevenção e tratamento mais personalizadas, com a inibição de ATR e CDK4 emergindo como potenciais alvos terapêuticos.

🇧🇷 traduzido
#3

Prevalence and Consequences of APC Mosaicism in Patients With Colorectal Adenomas.

Gastroenterology2026 Mar 09

O estudo revela que uma proporção considerável (9-14%) de pacientes com polipose adenomatosa, sem variante germinativa conhecida no gene APC, possui, na verdade, mosaicismo de APC. Para médicos, recomenda-se testar o mosaicismo de APC em pacientes com 20 ou mais adenomas antes dos 60 anos (ou 30+ antes dos 70), que testaram negativo para variantes germinativas. Pacientes com mosaicismo devem realizar colonoscopias e gastroduodenoscopias regulares, e o teste genético para descendentes deve ser considerado devido ao risco potencial de transmissão.

🇧🇷 traduzido
#4

Incidence of Cancer in Patients With Familial Adenomatous Polyposis in the Netherlands: A Nationwide Cohort Study.

Gastroenterology2026 Feb 25

Um estudo nacional holandês em pacientes com Polipose Adenomatosa Familiar (FAP) confirmou que, apesar das cirurgias preventivas para o câncer colorretal, eles ainda enfrentam um risco significativamente elevado para múltiplos tipos de câncer. Notavelmente, o câncer gástrico se tornou o mais diagnosticado desde 2020, e há riscos elevados para outros cânceres gastrointestinais (como duodenal, ampular) e extraintestinais (como tireoide, ginecológicos e do sistema nervoso central). Isso sublinha a necessidade de aprimorar urgentemente as estratégias de rastreamento e vigilância para esses pacientes.

🇧🇷 traduzido
#5

Cold snare polypectomy for 10-19 mm colorectal adenomas in familial adenomatous polyposis: a prospective randomized controlled trial.

Scandinavian journal of gastroenterology2026 Feb 24

Um estudo recente demonstrou que a polipectomia com ansa fria (CSP) é tão eficaz quanto a polipectomia com ansa quente (HSP) para remover completamente adenomas colorretais de 10-19mm em pacientes com polipose adenomatosa familiar (FAP). Para médicos e pacientes, a CSP oferece vantagens significativas: é mais rápida, menos custosa e está associada a menos complicações graves, como sangramento tardio ou síndrome pós-polipectomia, em comparação com a HSP, apesar de um risco ligeiramente maior de sangramento imediato e controlável. Isso sugere que a CSP é uma opção segura e eficiente para o manejo desses pólipos em pacientes com FAP.

🇧🇷 traduzido

Publicações recentes

Ver todas no PubMed

📚 EuropePMC2.548 artigos no totalmostrando 198

2026

Multistage Management of Splenic Flexure Adenocarcinoma in Suspected MUTYH-Associated Polyposis: A Case Report.

Annali italiani di chirurgia
2026

Pouch cancer in familial adenomatous polyposis. Incidence, risk factors and literature review: a propos of three rare cases.

Arquivos brasileiros de cirurgia digestiva : ABCD = Brazilian archives of digestive surgery
2026

Longitudinal Surveillance of Gastric Polyposis in Familial Adenomatous Polyposis: Incidence, Progression, and Endoscopic Outcomes.

United European gastroenterology journal
2026

Molecular and regional characterization of colorectal polyps: insights from proteomics, phosphoproteomics, and immune profiling.

Translational gastroenterology and hepatology
2026

Multiple hybrid pilomatrical/epidermoid cysts with differential nuclear expression of beta-catenin as a presenting symptom of familial adenomatous polyposis.

Clinical and experimental dermatology
2026

Colonoscopic surveillance without prophylactic colectomy in familial adenomatous polyposis: who are the appropriate candidates?

Clinical endoscopy
2026

Biomaterials-guided nanomedicine for familial adenomatous polyposis: lipid nanopartiscle RNA therapeutics with translational relevance.

Journal of controlled release : official journal of the Controlled Release Society
2026

Identification of a GPR182-postive stem cell population that drives polyp progression in familial adenomatous polyposis.

PeerJ
2026

A novel pathogenic APC variant identified in a Chinese pedigree with familial adenomatous polyposis.

Frontiers in genetics
2026

Genetic Predisposition to Pancreatic Cancer: A Systematic Review of Hereditary Syndromes and Familial Aggregation.

Cancers
2026

Endoscopic prediction model for detecting advanced rectal polyps after ileorectal anastomosis in familial adenomatous polyposis: a dual-center retrospective study.

Familial cancer
2026

Single-port robotic total colectomy: technical standardisation and ergonomic considerations of suprapubic versus periumbilical access.

Updates in surgery
2026

From Old Battles Won to New Frontiers in Familial Adenomatous Polyposis.

Gastroenterology
2026

Safety and efficacy of chemoprevention for familial adenomatous polyposis: a systematic review and meta-analysis.

Annals of coloproctology
2026

Prevalence and Consequences of APC Mosaicism in Patients With Colorectal Adenomas.

Gastroenterology
2026

Outcomes of Pancreas-Sparing Total Duodenectomy for Severe Duodenal Polyposis in Patients With Familial Adenomatous Polyposis.

Annals of gastroenterological surgery
2026

Spectrum of Colopathy and Severe Polyposis Associated With Pentosan Polysulfate Sodium Maculopathy: A Retrospective Case Series.

American journal of ophthalmology
2026

Potential of green tea extract to suppress colorectal polyp development in patients with familial adenomatous polyposis: a double-blind, randomized controlled trial Japan Familial Adenomatous Polyposis Prevention Study (J-FAPP Study I).

Genes and environment : the official journal of the Japanese Environmental Mutagen Society
2026

Familial colorectal cancer: risk factors, screening strategies and personalized medicine.

Cancer genetics
2026

Laparoscopic versus open ileal POUCH-ANAL anastomosis in paediatric patients: A systematic review and meta-analysis.

Journal of pediatric surgery
2026

Incidence of Cancer in Patients With Familial Adenomatous Polyposis in the Netherlands: A Nationwide Cohort Study.

Gastroenterology
2026

Managing Reach Problems in Pouch Surgery: Lengthening Maneuvers and S-Pouch Creation.

Diseases of the colon and rectum
2026

Cold snare polypectomy for 10-19 mm colorectal adenomas in familial adenomatous polyposis: a prospective randomized controlled trial.

Scandinavian journal of gastroenterology
2026

Genotype-guided conservative management of mesenteric desmoid tumors: A case report of intermediate-region APC mutations.

Medicine
2026

A rare upstream regulatory region mutation in APC presenting as classical familial adenomatous polyposis: A case report and literature review.

Experimental and therapeutic medicine
2026

Mental- and physical health, and general well-being in patients with polyposis syndromes: a scoping review.

Familial cancer
2026

Clinical impact of hospital distance and center transfers on adherence and outcomes in familial adenomatous polyposis: A multicenter retrospective study in a defined region of Japan.

PloS one
2026

Laparoscopic Approach for Total Procto-Colectomy with ilieo-anal pouch Reconstruction for Familial Polyposis Coli.

Diseases of the colon and rectum
2025

Development of an artificial intelligence model to identify duodenal polyps in patients with familial adenomatous polyposis.

iGIE : innovation, investigation and insights
2026

Retinal Pigment Epithelial Hamartomas in Familial Adenomatous Polyposis: New Insights Based on Multimodal Imaging of 233 Lesions.

Ophthalmology. Retina
2026

Deciphering the Causative Role of a Novel APC Gene Variant in Attenuated Familial Adenomatous Polyposis Using Germline DNA-RNA Paired Testing.

Biomedicines
2026

Experience of a Referral Center with Desmoid Tumors, Part 2: A Retrospective Analysis of 109 Cases.

Cancers
2026

Long-term local tumor control by endoscopic radiofrequency ablation for ampullary carcinoma with biliary extension in a patient with familial adenomatous polyposis.

Endoscopy
2026

Genetic differences in familial adenomatous polyposis syndrome in a Hungarian population: A prospective single center study.

World journal of gastroenterology
2025

From trial to real life: ten-year impact of a nutraceutical strategy on duodenal polyp burden in familial adenomatous polyposis.

Frontiers in oncology
2026

Incidental Adrenal Lesions in Familial Adenomatous Polyposis.

JCO precision oncology
2025

Challenging Aspects of Familial Adenomatous Polyposis With Malignant Transformation: A Report of Two Cases.

Cureus
2025

The Need for a Systems Biology Approach in Cancer Explained.

International journal of molecular sciences
2025

A Tissue Renewal-Based Mechanism Drives Colon Tumorigenesis.

Cancers
2026

Adenomatous Polyposis Coli Gene Polyposis-Related Syndromes.

The American journal of gastroenterology
2025

Surgical Resection with Posterior Rectus Sheath Preservation and Mesh Reconstruction without Pursuing Wide Negative Margins for an Abdominal Wall Desmoid in Familial Adenomatous Polyposis: A Case Report.

Surgical case reports
2026

Prognosis of Korean patients with familial adenomatous polyposis who did not undergo colectomy: a retrospective study.

Clinical endoscopy
2026

Review of Familial Adenomatous Polyposis: Current Understanding and Clinical Management.

JCO oncology practice
2025

Early genetic events in the colorectal carcinogenic pathway of familial adenomatous polyposis and sporadic polyp: germline and somatic alterations in carcinogenesis.

Frontiers in genetics
2025

Association of Familial Adenomatous Polyposis With Classic Papillary Thyroid Carcinoma and Acromegaly: A Case Report.

AACE endocrinology and diabetes
2025

Curcumin in colorectal cancer: preventive strategies and therapeutic mechanisms.

Cancer chemotherapy and pharmacology
2025

Abnormal MUC1 Expression as a Biomarker for Pouchitis.

Digestive diseases and sciences
2025

Immediate sequential bilateral retinal detachment repair in a patient with suspected COL2A1 and APC mutations.

Journal of vitreoretinal diseases
2026

Astilbin inhibits intestinal polyps via modulating the intestinal barrier, gut microbiota, and the intestinal inflammatory environment in mice.

Phytomedicine : international journal of phytotherapy and phytopharmacology
2026

Autologous Adipose Tissue Injection as Treatment for Ileoanal Pouch-Related Fistulae.

United European gastroenterology journal
2025

Two cases of genetic testing for familial adenomatous polyposis without a family history.

International cancer conference journal
2025

Clinicopathological and molecular mechanisms of cribriform morular thyroid carcinoma: a case report and a literature review.

Annals of medicine and surgery (2012)
2025

Secure Ileal Pouch-Anal Anastomosis for Histologic Indeterminate Colitis.

Journal of clinical medicine
2025

Pouch excision, dysplasia and polypectomy in familial adenomatous polyposis ileal pouch anal anastomosis: a retrospective analysis.

BMJ open gastroenterology
2026

Management of Ileal Pouch Cancer in Patients With Inflammatory Bowel Disease.

Gastro hep advances
2025

Ileostomy Adenocarcinoma After Recurrent Rectal and Colon Cancer: A Case Report and Literature Review.

Cureus
2025

Dose-Response Relationship of Niclosamide and Metformin Combination in ApcMin/+ Mice: An Integrated In Vivo and Pharmacokinetic Modeling Study.

Gut and liver
2026

Comparison of Postoperative Morbidity After Total Colectomy With Ileorectal Anastomosis Vs Proctocolectomy With IPAA in Familial Adenomatous Polyposis.

Diseases of the colon and rectum
2025

Advances in research on congenital and hereditary intestinal diseases: From molecular mechanisms to precision medicine.

Intractable &amp; rare diseases research
2025

The c.1744G > C, p.(Glu582Gln) missense variant in coding exon 14 of APC increases skipping of a natural occurring isoform and causes Familial Adenomatous Polyposis.

Journal of cancer research and clinical oncology
2025

Cumulative incidence and risk factors for advanced neoplasia following inflammatory bowel disease-related low-grade dysplasia: a Danish nationwide cohort study.

Journal of Crohn's &amp; colitis
2025

Short-Chain Fatty Acids and Colorectal Cancer: A Systematic Review and Integrative Bayesian Meta-Analysis of Microbiome-Metabolome Interactions and Intervention Efficacy.

Nutrients
2026

[Preventive Surgery for Hereditary Gastric Cancer].

Zentralblatt fur Chirurgie
2025

Polyclonal origins of human premalignant colorectal lesions.

bioRxiv : the preprint server for biology
2025

Pancreatic cancer surveillance not recommended for familial adenomatous polyposis: a fine and gray risk analysis.

Familial cancer
2025

Clinical challenges of cancer predisposition syndromes with pediatric central nervous system tumors: a single-center study.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2025

Double Omental Hernia: A Case Report and Literature Review.

Cureus
2025

Single-stage laparoscopic proctocolectomy with ileal pouch-anal anastomosis for familial adenomatous polyposis.

Pediatric surgery international
2025

Desmoid Tumors-Experience from a Referral Center, Part 1: Multidisciplinary Review and Practical Recommendations.

Cancers
2025

Advances in Hereditary Colorectal Cancer: How Precision Medicine Is Changing the Game.

Cancers
2025

Risk factors for dysplastic lesions in the proximal stomach in patients with familial adenomatous polyposis.

Endoscopy international open
2026

Japanese society for cancer of the colon and rectum (JSCCR) guidelines 2024 for the clinical practice of hereditary colorectal cancer.

International journal of clinical oncology
2025

The genetic puzzle of FAP: exploring novel diagnostic approaches for APC/MUTYH-negative case.

Hereditary cancer in clinical practice
2025

Somatic DICER1 pathogenic variants detected in a well-differentiated fetal lung adenocarcinoma diagnosed in a man with familial adenomatous polyposis.

BJC reports
2025

Management of desmoid tumors associated with familial adenomatous polyposis: a three-decade experience of a tertiary center in Brazil.

Arquivos brasileiros de cirurgia digestiva : ABCD = Brazilian archives of digestive surgery
2025

Endoscopic papillectomy for ampullary adenomas in familial adenomatous polyposis.

Familial cancer
2025

The use of whole genome sequencing to study young patients with 100+ adenomas of the colon.

Frontiers in oncology
2025

Peripheral Osteoma of the Maxillary Sinus in a Patient Planned for Sinus Augmentation.

Cureus
2025

Geriatric syndromes in intestinal failure: An accelerated aging phenomenon in middle adulthood patients?

Clinical nutrition ESPEN
2025

Adenoma and carcinoma in the anal transitional zone following hand-sewn versus stapled ileal pouch-anal anastomosis in familial adenomatous polyposis.

Familial cancer
2025

Clinicopathological analysis of three cases of breast desmoid-type fibromatosis.

BMC women's health
2025

Postoperative thoracic paraspinal desmoid tumor: illustrative case.

Journal of neurosurgery. Case lessons
2025

Development of Primary Colon and Duodenal Tumor Cultures from the Apc-mutant Pirc Rat for Screening Preventive Agents.

Journal of cancer prevention
2025

Gardner Fibroma Presenting as a Suspected Encephalocele: A Case Report and Literature Review.

Cureus
2025

A Case of APC Gene Mutation-Associated Familial Adenomatous Polyposis With Multiple System Malignancies.

Cancer reports (Hoboken, N.J.)
2025

Mathematical Modeling Quantifies "Just-Right" APC Inactivation for Colorectal Cancer Initiation.

Cancer research
2026

Familial adenomatous polyposis and gastric cancer.

QJM : monthly journal of the Association of Physicians
2025

Assessing the pathogenicity of a variant of uncertain significance in the ALK gene in right-sided colon polyposis.

Cancer treatment and research communications
2026

Molecular profiling in paediatric hepatocellular adenomas: phenotypic correlations and clinical significance.

Histopathology
2026

Low-Power Pure-Cut Hot Snare Polypectomy for Intensive Downstaging in Familial Adenomatous Polyposis: Promise, Practicality, and Evidence Still Needed.

Digestive endoscopy : official journal of the Japan Gastroenterological Endoscopy Society
2026

Gastric-type ampullary adenomas.

Annals of diagnostic pathology
2025

Identifying and characterizing a novel APC promoter 1B deletion in a Chinese family with familial adenomatous polyposis.

Genomics
2025

Genomic characterization of patients with colorectal cancer.

Hereditary cancer in clinical practice
2025

Computational definition of medical exclusion and feasibility of excluding people not eligible for French population-based colorectal cancer screening from the French medico-administrative database.

BMC medical informatics and decision making
2026

Efficacy and Safety of Gel Immersion Endoscopic Mucosal Resection for Gastric Neoplasms in Patients With Familial Adenomatous Polyposis: A Multicenter Retrospective Study.

DEN open
2025

[Proximal pericolic lymph node metastasis beyond 10 cm in rectal cancer: patterns of prognostic impact of extended resection in a prospective cohort study].

Zhonghua wei chang wai ke za zhi = Chinese journal of gastrointestinal surgery
2025

Effectiveness and Safety of Cold Snare Polypectomy in Intensive Downstaging Polypectomy for Colorectal Polyps in Patients with Familial Adenomatous Polyposis.

Digestion
2025

The Effect of Butyrylated Starch on Bowel Polyps in Familial Adenomatous Polyposis: Results of a Randomized, Double-blind, Placebo-Controlled Crossover Trial.

Cancer prevention research (Philadelphia, Pa.)
2025

Panretinal Congenital Hypertrophy of the RPE in an 8-Year-Old Girl with an X-Linked STAG2 Mutation.

Journal of clinical medicine
2025

General Anesthesia for a Child With a Living Donor Liver Transplant After Hepatoblastoma and Metastatic Lung Tumor Resection.

Anesthesia progress
2025

[Endoscopic treatment of patients with adenomas of the major duodenal papilla and familial adenomatous polyposis].

Khirurgiia
2025

Surgical management of the colorectum in FAP: tailored approaches for optimal outcomes.

Familial cancer
2025

A novel insertion/deletion in APC promotor 1B is associated with both gastric and colon polyposis.

Familial cancer
2025

Mutational profile of a Saudi patient with Familial adenomatous polyposis that progressed to colon cancer: A case report.

World journal of clinical oncology
2025

Comparing surgical outcomes of robotic and laparoscopic or open ileal pouch-anal anastomosis: a systematic review and meta-analysis.

Journal of robotic surgery
2025

Malignant Testicular Sex Cord-Stromal Tumor With Signet Ring Stromal Features Associated With Familial Adenomatous Polyposis.

Mayo Clinic proceedings
2025

APC-related multiple salivary gland lesions: spatial transcriptomic analysis reveals progressive WNT activation.

The Journal of pathology
2025

Endoscopic papillectomy of major papilla lesions: Single tertiary care center experience.

Endoscopy international open
2025

Desmoid tumor causing large bowel obstruction: an extremely rare diagnosis with an innovative treatment approach.

Journal of surgical case reports
2025

Perineal salvage surgery for prolapse of ileal pouch anal anastomosis: Systematic review and meta-analysis.

Colorectal disease : the official journal of the Association of Coloproctology of Great Britain and Ireland
2025

Pilomatricoma in Syndromic Contexts: A Literature Review and a Report of a Case in Apert Syndrome.

Dermatopathology (Basel, Switzerland)
2025

Improved outcomes in Familial Adenomatous polyposis management. Results achieved in a single center over a 40-year period.

Clinics (Sao Paulo, Brazil)
2025

Desmoid tumor control with liposomal doxorubicin: a dual-center retrospective analysis.

Expert review of anticancer therapy
2025

Fully Robotic Total Colectomy in High-Risk Patients and Review of Literature.

The international journal of medical robotics + computer assisted surgery : MRCAS
2025

Mutual Tissue Microchimerism of Hepatoblastomas in Monozygotic Twins From a Familial Adenomatous Polyposis Family.

Twin research and human genetics : the official journal of the International Society for Twin Studies
2025

Whole-exome sequencing identifies new pathogenic germline variants in patients with colorectal polyposis.

World journal of gastroenterology
2025

Principles of Endoscopic Surveillance of Extrapapillary Duodenal Lesions in Familial Adenomatous Polyposis: A 14-Year Single-Center Observation.

Cancers
2025

Pediatric endoscopic mucosal resection: A 10-year single-center experience.

Journal of pediatric gastroenterology and nutrition
2025

Whole-genome variant detection in long-read sequencing data from ultra-low input patient samples.

medRxiv : the preprint server for health sciences
2025

A narrative review of the ileal pouch in pediatric inflammatory bowel disease and familial adenomatous polyposis.

Journal of pediatric gastroenterology and nutrition
2025

Safety and Feasibility of Intensive Downstaging Polypectomy With Low-Power Pure-Cut Hot Snare Polypectomy in Patients With Familial Adenomatous Polyposis (With Video).

Digestive endoscopy : official journal of the Japan Gastroenterological Endoscopy Society
2025

Genome-wide DNA methylation profiles of colorectal tumors in Lynch syndrome and familial adenomatous polyposis.

Clinical epigenetics
2025

The Process of Cancer Prevention Behaviors in Individuals at High Risk of Hereditary Cancer: A Grounded Theory Study.

Psycho-oncology
2025

Comparative analysis of robotic, laparoscopic, and open ileal pouch-anal anastomosis outcomes: retrospective cohort study.

BJS open
2025

A Case of Polymerase Proofreading-Associated Polyposis: Challenges in Genetic Diagnosis.

JGH open : an open access journal of gastroenterology and hepatology
2026

Gastric neoplasm with foveolar-cell differentiation in Helicobacter pylori-naïve patients.

Histology and histopathology
2025

Case Report: Gefitinib in EGFR 19del recurrent aggressive fibromatosis.

Frontiers in oncology
2025

The Role of the Surgical Pathologist in the Recognition of Hereditary Mesenchymal Neoplasms.

Advances in anatomic pathology
2025

Laparoscopic restorative proctocolectomy with transanal total mesorectal excision for familial adenomatous polyposis in a 13-year-old: Case report and review of minimally invasive approaches.

International journal of surgery case reports
2025

Pouch Inlet Transposition: A Novel Approach for Recurrent Small-Bowel Volvulus From Pouch Inlet Twists.

Diseases of the colon and rectum
2025

Rapamycin rescues APC-mutated colon organoid differentiation.

Cancer gene therapy
2025

IMMEDIATE AND LATE RESULTS OF ILEOSTOMY CLOSURE IN PATIENTS WITH FAMILIAL ADENOMATOUS POLYPOSIS UNDERGOING RESTORATIVE PROCTOCOLECTOMY BY OPEN OR LAPAROSCOPIC APPROACHES.

Arquivos de gastroenterologia
2025

Predicting colorectal cancer risk in FAP patients using patient-specific organoids.

Cancer gene therapy
2025

Proteomics-based prognostic signature in colon adenocarcinoma patients with familial adenomatous polyposis.

Translational cancer research
2025

Skin Signals: Exploring the Intersection of Cancer Predisposition Syndromes and Dermatological Manifestations.

International journal of molecular sciences
2025

Clinicopathological characteristics of 30 cases of pyloric gland adenoma: a single center case series.

BMC gastroenterology
2025

Bowel function and quality of life after robotic and laparoscopic IPAA: a patient-reported outcomes study.

Journal of robotic surgery
2025

A rare case of perforated giant mesenteric fibromatosis causing acute peritonitis.

Journal of surgical case reports
2025

Nutritional benefits of pancreas-sparing total duodenectomy for severe duodenal polyposis in patients with familial adenomatous polyposis.

Annals of gastroenterological surgery
2025

Current Practice of Hereditary Polyposis Syndromes in Children: A Survey of Providers Treating Pediatric Patients.

Cancer prevention research (Philadelphia, Pa.)
2025

Utility, Performance and Safety of Single Balloon Enteroscopy in Patients with Hereditary Polyposis Syndromes.

Journal of gastrointestinal and liver diseases : JGLD
2025

The Augmentation Pouch: Adding an S Pouch to a Straight Ileal-Anal Anastomosis.

ANZ journal of surgery
2025

Validation of a Digital Tool That Uses National Testing Guidelines to Identify Individuals at Risk for Hereditary Cancer.

Journal of the National Comprehensive Cancer Network : JNCCN
2025

Sporadic Desmoid-Type Fibromatosis of the Small Intestine Muscularis Propria: A Case Report.

Cureus
2025

Genetic profiling of inherited colorectal cancer syndromes in Tunisian patients.

PloS one
2025

MUC4-positive Fibroblastoma: A Distinctive Hyalinized Spindle Cell Neoplasm With Aberrant Nuclear Beta-catenin Expression and Frequent Biallelic Inactivation of APC.

The American journal of surgical pathology
2025

Updates and controversies for desmoids in familial adenomatous polyposis.

Familial cancer
2025

Educational Case: Familial adenomatous polyposis.

Academic pathology
2025

Multi-omic analysis identifies cholesterol metabolism related protein ARV1 as a novel biomarker for Colon adenocarcinoma patients with adenomatous polyposis.

Scandinavian journal of gastroenterology
2025

Hepatoid carcinoma of the pancreas in a patient with familial adenomatous polyposis.

BMJ case reports
2025

Dietary lipids, not ketone body metabolites, influence intestinal tumorigenesis in a ketogenic diet.

bioRxiv : the preprint server for biology
2025

Gastric Polyposis and Cancer in Western Patients With Familial Adenomatous Polyposis: Epidemiology, Detection, and Management.

Journal of the National Comprehensive Cancer Network : JNCCN
2025

Risk factors for recurrence after endoscopic papillectomy in ampullary adenomas: a retrospective case-control study.

Therapeutic advances in gastroenterology
2025

Challenges in Diagnosing Cribriform Morular Thyroid Carcinoma.

JCEM case reports
2026

Histomorphological and Molecular Features of Colonic Large-Cell Neuroendocrine Carcinoma in a Patient With Familial Adenomatous Polyposis: A Case Report and Review of Literature.

International journal of surgical pathology
2025

Case Report: A case of new-onset retroperitoneal aggressive fibromatosis after resection of solid pseudopapillary tumor of the pancreas and review of the literature.

Frontiers in oncology
2025

The efficacy of genetic counseling for familial colorectal cancer: A meta-analysis.

Journal of genetic counseling
2025

Robot-Assisted Multiquadrant Operation: Proctocolectomy and Abdominoperineal Resection Using the Da Vinci Xi for Familial Adenomatous Polyposis With Rectal Carcinoma.

Cureus
2025

Familial adenomatous polyposis: non-surgical management of large bowel disease: endoscopic and chemoprevention strategies.

Familial cancer
2025

Redefining familial adenomatous polyposis: competition, cooperation, and the path to monoclonality.

Familial cancer
2025

Screening and surveillance of hereditary upper GI cancers.

Best practice &amp; research. Clinical gastroenterology
2025

Emerging Strategies for Drug-Based Cancer Risk Reduction.

American Society of Clinical Oncology educational book. American Society of Clinical Oncology. Annual Meeting
2025

Worldwide Impact of Upper Gastrointestinal Disease in Familial Adenomatous Polyposis.

Diagnostics (Basel, Switzerland)
2025

Upper GI polyposis and cancer in FAP: diagnosis, surveillance and treatment.

Familial cancer
2025

A Closer Look: Familial Adenomatous Polyposis Suspected Through Ophthalmological Findings in an Adolescent.

Cureus
2025

Ileal pouch-anal anastomosis in familial adenomatous polyposis and ulcerative colitis with coexisting colorectal cancer: a guideline for treatment.

Journal of surgical case reports
2025

Familial polyposis syndrome and achalasia in a young adult.

JPGN reports
2025

Impact of stool transplantation and metformin on polyp reduction and inflammation in an APC Min mouse model.

Intestinal research
2025

[A Case of Rectal Cancer with Lateral Lymph Node, Liver and Lung Metastases after Surgery, Successfully Undergoing Radical Resection with Multidisciplinary Treatment].

Gan to kagaku ryoho. Cancer &amp; chemotherapy
2025

Screening at the scope: enhancing the role of pathologists in diagnosing gastrointestinal polyposis syndromes.

Virchows Archiv : an international journal of pathology
2025

Mental Health in Familial Adenomatous Polyposis: A Systematic Review.

Psycho-oncology
2025

Intestinal transplantation in Familial Adenomatous Polyposis.

Familial cancer
2025

Hereditary Colorectal Cancer: Clinical Implications of Genomic Medicine and Precision Oncology.

Journal of the anus, rectum and colon
2025

Hereditary Colorectal Cancer: From Diagnosis to Surgical Options.

Clinics in colon and rectal surgery
2025

IL-17A-producing NKp44(-) group 3 innate lymphoid cells accumulate in Familial Adenomatous Polyposis duodenal tissue.

Nature communications
2025

A Systematic Review of Cost-Effectiveness Studies on Pancreatic Cancer Screening.

Current oncology (Toronto, Ont.)
2025

Current Guidelines and Advances in the Management of Fundic Gland Polyps.

Journal of gastroenterology and hepatology
2025

Decoding the genetic and environmental forces in propelling the surge of early-onset colorectal cancer.

Chinese medical journal
2025

Genetics, genomics and clinical features of adenomatous polyposis.

Familial cancer
2025

A review of APC somatic mosaicism and specific APC variants - I1307K and promotor variants.

Familial cancer
2025

Population Prevalence of the Major Thyroid Cancer-Associated Syndromes.

The Journal of clinical endocrinology and metabolism
2024

Phenotype Correlations With Pathogenic DNA Variants in the MUTYH Gene: A Review of Over 2000 Cases.

Human mutation
2025

Reexamining Multisystem Desmoid Tumors Linked to Gardner's Syndrome: A Clinical Case.

Case reports in gastrointestinal medicine
2025

One hundred years of the St Mark's hospital polyposis registry.

Familial cancer
2025

Hereditary Colorectal Cancer Syndromes: Small Bowel Cancer Risk and Endoscopic Surveillance Strategies.

Diagnostics (Basel, Switzerland)
2025

BRCA2-Related Hereditary Cancer Syndrome-Associated Small Bowel Adenocarcinoma With Multiple BRCA2 Mutations: A Case Report and Review of the Literature.

Cancer reports (Hoboken, N.J.)
2025

Guidelines for Familial Adenomatous Polyposis (FAP): challenges in defining clinical management for a rare disease.

Familial cancer
2025

Controlling Oligopolyposis With Colonoscopy: A Cohort Study.

Diseases of the colon and rectum
2025

Long-read genome and RNA sequencing resolve a pathogenic intronic germline LINE-1 insertion in APC.

NPJ genomic medicine
2025

KMT2C mutation in sporadic cribriform morular thyroid carcinoma: A rare case report and review of literature.

The Journal of international medical research
2025

Robot-Assisted Total Proctocolectomy for Familial Adenomatous Polyposis with Multiple Colorectal Cancers Using the Hugo RAS System.

Surgical case reports
2025

A Rare Case of Dislodged Chemoport Catheter Entrapment in the Pulmonary Artery.

Case reports in vascular medicine
2025

Robotic colectomy for familial adenomatous polyposis and synchronous right colon cancer: a video vignette.

Colorectal disease : the official journal of the Association of Coloproctology of Great Britain and Ireland
2025

Hepatoblastoma: From Molecular Mechanisms to Therapeutic Strategies.

Current oncology (Toronto, Ont.)
2025

An uncommon intersection: Familial adenomatous polyposis and solid pseudopapillary neoplasm of the pancreas: A case report and review of the literature.

Radiology case reports
2025

Robotic proctocolectomy with ileal pouch-anal anastomosis: a hybrid approach.

International journal of colorectal disease
2025

Outcomes of intestinal transplantation for familial adenomatous polyposis-associated intra-abdominal desmoid disease.

Journal of gastrointestinal surgery : official journal of the Society for Surgery of the Alimentary Tract
2025

Antitumor efficacy of intermittent low-dose erlotinib plus sulindac via MHC upregulation and remodeling of the immune cell niche.

International journal of cancer
Ver todos os 2.548 no EuropePMC

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Doenças relacionadas

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Ordenadas pelo número de sintomas em comum.

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. Longitudinal Surveillance of Gastric Polyposis in Familial Adenomatous Polyposis: Incidence, Progression, and Endoscopic Outcomes.
    United European gastroenterology journal· 2026· PMID 41972342mais citado
  2. Molecular and regional characterization of colorectal polyps: insights from proteomics, phosphoproteomics, and immune profiling.
    Translational gastroenterology and hepatology· 2026· PMID 41969555mais citado
  3. Prevalence and Consequences of APC Mosaicism in Patients With Colorectal Adenomas.
    Gastroenterology· 2026· PMID 41801175mais citado
  4. Incidence of Cancer in Patients With Familial Adenomatous Polyposis in the Netherlands: A Nationwide Cohort Study.
    Gastroenterology· 2026· PMID 41739006mais citado
  5. Cold snare polypectomy for 10-19&#x2009;mm colorectal adenomas in familial adenomatous polyposis: a prospective randomized controlled trial.
    Scandinavian journal of gastroenterology· 2026· PMID 41736450mais citado
  6. Diffuse Gastrointestinal Polyposis Revealing Mantle Cell Lymphoma: A Case Highlighting a Diagnostic Pitfall.
    Cureus· 2026· PMID 41994825recente
  7. Combination of a pesco vegetarian diet with non-steroidal anti-inflammatory drugs reduces colorectal cancer risk and modulates gut microbiota in PIRC rats.
    Sci Rep· 2026· PMID 41992021recente
  8. Multistage Management of Splenic Flexure Adenocarcinoma in Suspected MUTYH-Associated Polyposis: A Case Report.
    Ann Ital Chir· 2026· PMID 41987631recente
  9. Pouch cancer in familial adenomatous polyposis. Incidence, risk factors and literature review: a propos of three rare cases.
    Arq Bras Cir Dig· 2026· PMID 41983869recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:733(Orphanet)
  2. MONDO:0021055(MONDO)
  3. GARD:6408(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. Artigo Wikipedia(Wikipedia)
  7. Q1369011(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

Polipose adenomatosa familiar
Compêndio · Raras BR

Polipose adenomatosa familiar

ORPHA:733 · MONDO:0021055
Prevalência
1-9 / 100 000
Herança
Autosomal dominant, Autosomal recessive
CID-10
D12.6 · Neoplasia benigna do cólon, não especificada
CID-11
Ensaios
25 ativos
Início
Adult
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C0032580
Testes
214 disponíveis
EuropePMC
Wikidata
Wikipedia
Papers 10a
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