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.
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.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 22 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 72 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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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.
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
Cell junction, adherens junctionCytoplasm, cytoskeletonCell projection, lamellipodiumCell projection, ruffle membraneCytoplasmCell membrane
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.
Variantes genéticas (ClinVar)
13,056 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 15,889 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
15 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Polipose adenomatosa familiar
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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
Ensaios em destaque
🟢 Recrutando agora
19 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
98 ensaios clínicos encontrados, 25 ativos.
Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 1.852
Longitudinal Surveillance of Gastric Polyposis in Familial Adenomatous Polyposis: Incidence, Progression, and Endoscopic Outcomes.
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.
🇧🇷 traduzidoMolecular and regional characterization of colorectal polyps: insights from proteomics, phosphoproteomics, and immune profiling.
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.
🇧🇷 traduzidoPrevalence and Consequences of APC Mosaicism in Patients With Colorectal Adenomas.
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.
🇧🇷 traduzidoIncidence of Cancer in Patients With Familial Adenomatous Polyposis in the Netherlands: A Nationwide Cohort Study.
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.
🇧🇷 traduzidoCold snare polypectomy for 10-19 mm colorectal adenomas in familial adenomatous polyposis: a prospective randomized controlled trial.
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.
🇧🇷 traduzidoPublicações recentes
Diffuse Gastrointestinal Polyposis Revealing Mantle Cell Lymphoma: A Case Highlighting a Diagnostic Pitfall.
📖 RevisãoCombination of a pesco vegetarian diet with non-steroidal anti-inflammatory drugs reduces colorectal cancer risk and modulates gut microbiota in PIRC rats.
Multistage Management of Splenic Flexure Adenocarcinoma in Suspected MUTYH-Associated Polyposis: A Case Report.
Pouch cancer in familial adenomatous polyposis. Incidence, risk factors and literature review: a propos of three rare cases.
Longitudinal Surveillance of Gastric Polyposis in Familial Adenomatous Polyposis: Incidence, Progression, and Endoscopic Outcomes.
📚 EuropePMC2.548 artigos no totalmostrando 198
Multistage Management of Splenic Flexure Adenocarcinoma in Suspected MUTYH-Associated Polyposis: A Case Report.
Annali italiani di chirurgiaPouch 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 surgeryLongitudinal Surveillance of Gastric Polyposis in Familial Adenomatous Polyposis: Incidence, Progression, and Endoscopic Outcomes.
United European gastroenterology journalMolecular and regional characterization of colorectal polyps: insights from proteomics, phosphoproteomics, and immune profiling.
Translational gastroenterology and hepatologyMultiple hybrid pilomatrical/epidermoid cysts with differential nuclear expression of beta-catenin as a presenting symptom of familial adenomatous polyposis.
Clinical and experimental dermatologyColonoscopic surveillance without prophylactic colectomy in familial adenomatous polyposis: who are the appropriate candidates?
Clinical endoscopyBiomaterials-guided nanomedicine for familial adenomatous polyposis: lipid nanopartiscle RNA therapeutics with translational relevance.
Journal of controlled release : official journal of the Controlled Release SocietyIdentification of a GPR182-postive stem cell population that drives polyp progression in familial adenomatous polyposis.
PeerJA novel pathogenic APC variant identified in a Chinese pedigree with familial adenomatous polyposis.
Frontiers in geneticsGenetic Predisposition to Pancreatic Cancer: A Systematic Review of Hereditary Syndromes and Familial Aggregation.
CancersEndoscopic prediction model for detecting advanced rectal polyps after ileorectal anastomosis in familial adenomatous polyposis: a dual-center retrospective study.
Familial cancerSingle-port robotic total colectomy: technical standardisation and ergonomic considerations of suprapubic versus periumbilical access.
Updates in surgeryFrom Old Battles Won to New Frontiers in Familial Adenomatous Polyposis.
GastroenterologySafety and efficacy of chemoprevention for familial adenomatous polyposis: a systematic review and meta-analysis.
Annals of coloproctologyPrevalence and Consequences of APC Mosaicism in Patients With Colorectal Adenomas.
GastroenterologyOutcomes of Pancreas-Sparing Total Duodenectomy for Severe Duodenal Polyposis in Patients With Familial Adenomatous Polyposis.
Annals of gastroenterological surgerySpectrum of Colopathy and Severe Polyposis Associated With Pentosan Polysulfate Sodium Maculopathy: A Retrospective Case Series.
American journal of ophthalmologyPotential 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 SocietyFamilial colorectal cancer: risk factors, screening strategies and personalized medicine.
Cancer geneticsLaparoscopic versus open ileal POUCH-ANAL anastomosis in paediatric patients: A systematic review and meta-analysis.
Journal of pediatric surgeryIncidence of Cancer in Patients With Familial Adenomatous Polyposis in the Netherlands: A Nationwide Cohort Study.
GastroenterologyManaging Reach Problems in Pouch Surgery: Lengthening Maneuvers and S-Pouch Creation.
Diseases of the colon and rectumCold snare polypectomy for 10-19 mm colorectal adenomas in familial adenomatous polyposis: a prospective randomized controlled trial.
Scandinavian journal of gastroenterologyGenotype-guided conservative management of mesenteric desmoid tumors: A case report of intermediate-region APC mutations.
MedicineA rare upstream regulatory region mutation in APC presenting as classical familial adenomatous polyposis: A case report and literature review.
Experimental and therapeutic medicineMental- and physical health, and general well-being in patients with polyposis syndromes: a scoping review.
Familial cancerClinical 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 oneLaparoscopic Approach for Total Procto-Colectomy with ilieo-anal pouch Reconstruction for Familial Polyposis Coli.
Diseases of the colon and rectumDevelopment of an artificial intelligence model to identify duodenal polyps in patients with familial adenomatous polyposis.
iGIE : innovation, investigation and insightsRetinal Pigment Epithelial Hamartomas in Familial Adenomatous Polyposis: New Insights Based on Multimodal Imaging of 233 Lesions.
Ophthalmology. RetinaDeciphering the Causative Role of a Novel APC Gene Variant in Attenuated Familial Adenomatous Polyposis Using Germline DNA-RNA Paired Testing.
BiomedicinesExperience of a Referral Center with Desmoid Tumors, Part 2: A Retrospective Analysis of 109 Cases.
CancersLong-term local tumor control by endoscopic radiofrequency ablation for ampullary carcinoma with biliary extension in a patient with familial adenomatous polyposis.
EndoscopyGenetic differences in familial adenomatous polyposis syndrome in a Hungarian population: A prospective single center study.
World journal of gastroenterologyFrom trial to real life: ten-year impact of a nutraceutical strategy on duodenal polyp burden in familial adenomatous polyposis.
Frontiers in oncologyIncidental Adrenal Lesions in Familial Adenomatous Polyposis.
JCO precision oncologyChallenging Aspects of Familial Adenomatous Polyposis With Malignant Transformation: A Report of Two Cases.
CureusThe Need for a Systems Biology Approach in Cancer Explained.
International journal of molecular sciencesA Tissue Renewal-Based Mechanism Drives Colon Tumorigenesis.
CancersAdenomatous Polyposis Coli Gene Polyposis-Related Syndromes.
The American journal of gastroenterologySurgical 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 reportsPrognosis of Korean patients with familial adenomatous polyposis who did not undergo colectomy: a retrospective study.
Clinical endoscopyReview of Familial Adenomatous Polyposis: Current Understanding and Clinical Management.
JCO oncology practiceEarly genetic events in the colorectal carcinogenic pathway of familial adenomatous polyposis and sporadic polyp: germline and somatic alterations in carcinogenesis.
Frontiers in geneticsAssociation of Familial Adenomatous Polyposis With Classic Papillary Thyroid Carcinoma and Acromegaly: A Case Report.
AACE endocrinology and diabetesCurcumin in colorectal cancer: preventive strategies and therapeutic mechanisms.
Cancer chemotherapy and pharmacologyAbnormal MUC1 Expression as a Biomarker for Pouchitis.
Digestive diseases and sciencesImmediate sequential bilateral retinal detachment repair in a patient with suspected COL2A1 and APC mutations.
Journal of vitreoretinal diseasesAstilbin inhibits intestinal polyps via modulating the intestinal barrier, gut microbiota, and the intestinal inflammatory environment in mice.
Phytomedicine : international journal of phytotherapy and phytopharmacologyAutologous Adipose Tissue Injection as Treatment for Ileoanal Pouch-Related Fistulae.
United European gastroenterology journalTwo cases of genetic testing for familial adenomatous polyposis without a family history.
International cancer conference journalClinicopathological and molecular mechanisms of cribriform morular thyroid carcinoma: a case report and a literature review.
Annals of medicine and surgery (2012)Secure Ileal Pouch-Anal Anastomosis for Histologic Indeterminate Colitis.
Journal of clinical medicinePouch excision, dysplasia and polypectomy in familial adenomatous polyposis ileal pouch anal anastomosis: a retrospective analysis.
BMJ open gastroenterologyManagement of Ileal Pouch Cancer in Patients With Inflammatory Bowel Disease.
Gastro hep advancesIleostomy Adenocarcinoma After Recurrent Rectal and Colon Cancer: A Case Report and Literature Review.
CureusDose-Response Relationship of Niclosamide and Metformin Combination in ApcMin/+ Mice: An Integrated In Vivo and Pharmacokinetic Modeling Study.
Gut and liverComparison of Postoperative Morbidity After Total Colectomy With Ileorectal Anastomosis Vs Proctocolectomy With IPAA in Familial Adenomatous Polyposis.
Diseases of the colon and rectumAdvances in research on congenital and hereditary intestinal diseases: From molecular mechanisms to precision medicine.
Intractable & rare diseases researchThe 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 oncologyCumulative incidence and risk factors for advanced neoplasia following inflammatory bowel disease-related low-grade dysplasia: a Danish nationwide cohort study.
Journal of Crohn's & colitisShort-Chain Fatty Acids and Colorectal Cancer: A Systematic Review and Integrative Bayesian Meta-Analysis of Microbiome-Metabolome Interactions and Intervention Efficacy.
Nutrients[Preventive Surgery for Hereditary Gastric Cancer].
Zentralblatt fur ChirurgiePolyclonal origins of human premalignant colorectal lesions.
bioRxiv : the preprint server for biologyPancreatic cancer surveillance not recommended for familial adenomatous polyposis: a fine and gray risk analysis.
Familial cancerClinical 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 NeurosurgeryDouble Omental Hernia: A Case Report and Literature Review.
CureusSingle-stage laparoscopic proctocolectomy with ileal pouch-anal anastomosis for familial adenomatous polyposis.
Pediatric surgery internationalDesmoid Tumors-Experience from a Referral Center, Part 1: Multidisciplinary Review and Practical Recommendations.
CancersAdvances in Hereditary Colorectal Cancer: How Precision Medicine Is Changing the Game.
CancersRisk factors for dysplastic lesions in the proximal stomach in patients with familial adenomatous polyposis.
Endoscopy international openJapanese society for cancer of the colon and rectum (JSCCR) guidelines 2024 for the clinical practice of hereditary colorectal cancer.
International journal of clinical oncologyThe genetic puzzle of FAP: exploring novel diagnostic approaches for APC/MUTYH-negative case.
Hereditary cancer in clinical practiceSomatic DICER1 pathogenic variants detected in a well-differentiated fetal lung adenocarcinoma diagnosed in a man with familial adenomatous polyposis.
BJC reportsManagement 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 surgeryEndoscopic papillectomy for ampullary adenomas in familial adenomatous polyposis.
Familial cancerThe use of whole genome sequencing to study young patients with 100+ adenomas of the colon.
Frontiers in oncologyPeripheral Osteoma of the Maxillary Sinus in a Patient Planned for Sinus Augmentation.
CureusGeriatric syndromes in intestinal failure: An accelerated aging phenomenon in middle adulthood patients?
Clinical nutrition ESPENAdenoma and carcinoma in the anal transitional zone following hand-sewn versus stapled ileal pouch-anal anastomosis in familial adenomatous polyposis.
Familial cancerClinicopathological analysis of three cases of breast desmoid-type fibromatosis.
BMC women's healthPostoperative thoracic paraspinal desmoid tumor: illustrative case.
Journal of neurosurgery. Case lessonsDevelopment of Primary Colon and Duodenal Tumor Cultures from the Apc-mutant Pirc Rat for Screening Preventive Agents.
Journal of cancer preventionGardner Fibroma Presenting as a Suspected Encephalocele: A Case Report and Literature Review.
CureusA Case of APC Gene Mutation-Associated Familial Adenomatous Polyposis With Multiple System Malignancies.
Cancer reports (Hoboken, N.J.)Mathematical Modeling Quantifies "Just-Right" APC Inactivation for Colorectal Cancer Initiation.
Cancer researchFamilial adenomatous polyposis and gastric cancer.
QJM : monthly journal of the Association of PhysiciansAssessing the pathogenicity of a variant of uncertain significance in the ALK gene in right-sided colon polyposis.
Cancer treatment and research communicationsMolecular profiling in paediatric hepatocellular adenomas: phenotypic correlations and clinical significance.
HistopathologyLow-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 SocietyGastric-type ampullary adenomas.
Annals of diagnostic pathologyIdentifying and characterizing a novel APC promoter 1B deletion in a Chinese family with familial adenomatous polyposis.
GenomicsGenomic characterization of patients with colorectal cancer.
Hereditary cancer in clinical practiceComputational 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 makingEfficacy and Safety of Gel Immersion Endoscopic Mucosal Resection for Gastric Neoplasms in Patients With Familial Adenomatous Polyposis: A Multicenter Retrospective Study.
DEN open[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 surgeryEffectiveness and Safety of Cold Snare Polypectomy in Intensive Downstaging Polypectomy for Colorectal Polyps in Patients with Familial Adenomatous Polyposis.
DigestionThe 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.)Panretinal Congenital Hypertrophy of the RPE in an 8-Year-Old Girl with an X-Linked STAG2 Mutation.
Journal of clinical medicineGeneral Anesthesia for a Child With a Living Donor Liver Transplant After Hepatoblastoma and Metastatic Lung Tumor Resection.
Anesthesia progress[Endoscopic treatment of patients with adenomas of the major duodenal papilla and familial adenomatous polyposis].
KhirurgiiaSurgical management of the colorectum in FAP: tailored approaches for optimal outcomes.
Familial cancerA novel insertion/deletion in APC promotor 1B is associated with both gastric and colon polyposis.
Familial cancerMutational profile of a Saudi patient with Familial adenomatous polyposis that progressed to colon cancer: A case report.
World journal of clinical oncologyComparing surgical outcomes of robotic and laparoscopic or open ileal pouch-anal anastomosis: a systematic review and meta-analysis.
Journal of robotic surgeryMalignant Testicular Sex Cord-Stromal Tumor With Signet Ring Stromal Features Associated With Familial Adenomatous Polyposis.
Mayo Clinic proceedingsAPC-related multiple salivary gland lesions: spatial transcriptomic analysis reveals progressive WNT activation.
The Journal of pathologyEndoscopic papillectomy of major papilla lesions: Single tertiary care center experience.
Endoscopy international openDesmoid tumor causing large bowel obstruction: an extremely rare diagnosis with an innovative treatment approach.
Journal of surgical case reportsPerineal 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 IrelandPilomatricoma in Syndromic Contexts: A Literature Review and a Report of a Case in Apert Syndrome.
Dermatopathology (Basel, Switzerland)Improved outcomes in Familial Adenomatous polyposis management. Results achieved in a single center over a 40-year period.
Clinics (Sao Paulo, Brazil)Desmoid tumor control with liposomal doxorubicin: a dual-center retrospective analysis.
Expert review of anticancer therapyFully Robotic Total Colectomy in High-Risk Patients and Review of Literature.
The international journal of medical robotics + computer assisted surgery : MRCASMutual 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 StudiesWhole-exome sequencing identifies new pathogenic germline variants in patients with colorectal polyposis.
World journal of gastroenterologyPrinciples of Endoscopic Surveillance of Extrapapillary Duodenal Lesions in Familial Adenomatous Polyposis: A 14-Year Single-Center Observation.
CancersPediatric endoscopic mucosal resection: A 10-year single-center experience.
Journal of pediatric gastroenterology and nutritionWhole-genome variant detection in long-read sequencing data from ultra-low input patient samples.
medRxiv : the preprint server for health sciencesA narrative review of the ileal pouch in pediatric inflammatory bowel disease and familial adenomatous polyposis.
Journal of pediatric gastroenterology and nutritionSafety 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 SocietyGenome-wide DNA methylation profiles of colorectal tumors in Lynch syndrome and familial adenomatous polyposis.
Clinical epigeneticsThe Process of Cancer Prevention Behaviors in Individuals at High Risk of Hereditary Cancer: A Grounded Theory Study.
Psycho-oncologyComparative analysis of robotic, laparoscopic, and open ileal pouch-anal anastomosis outcomes: retrospective cohort study.
BJS openA Case of Polymerase Proofreading-Associated Polyposis: Challenges in Genetic Diagnosis.
JGH open : an open access journal of gastroenterology and hepatologyGastric neoplasm with foveolar-cell differentiation in Helicobacter pylori-naïve patients.
Histology and histopathologyCase Report: Gefitinib in EGFR 19del recurrent aggressive fibromatosis.
Frontiers in oncologyThe Role of the Surgical Pathologist in the Recognition of Hereditary Mesenchymal Neoplasms.
Advances in anatomic pathologyLaparoscopic 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 reportsPouch Inlet Transposition: A Novel Approach for Recurrent Small-Bowel Volvulus From Pouch Inlet Twists.
Diseases of the colon and rectumRapamycin rescues APC-mutated colon organoid differentiation.
Cancer gene therapyIMMEDIATE AND LATE RESULTS OF ILEOSTOMY CLOSURE IN PATIENTS WITH FAMILIAL ADENOMATOUS POLYPOSIS UNDERGOING RESTORATIVE PROCTOCOLECTOMY BY OPEN OR LAPAROSCOPIC APPROACHES.
Arquivos de gastroenterologiaPredicting colorectal cancer risk in FAP patients using patient-specific organoids.
Cancer gene therapyProteomics-based prognostic signature in colon adenocarcinoma patients with familial adenomatous polyposis.
Translational cancer researchSkin Signals: Exploring the Intersection of Cancer Predisposition Syndromes and Dermatological Manifestations.
International journal of molecular sciencesClinicopathological characteristics of 30 cases of pyloric gland adenoma: a single center case series.
BMC gastroenterologyBowel function and quality of life after robotic and laparoscopic IPAA: a patient-reported outcomes study.
Journal of robotic surgeryA rare case of perforated giant mesenteric fibromatosis causing acute peritonitis.
Journal of surgical case reportsNutritional benefits of pancreas-sparing total duodenectomy for severe duodenal polyposis in patients with familial adenomatous polyposis.
Annals of gastroenterological surgeryCurrent Practice of Hereditary Polyposis Syndromes in Children: A Survey of Providers Treating Pediatric Patients.
Cancer prevention research (Philadelphia, Pa.)Utility, Performance and Safety of Single Balloon Enteroscopy in Patients with Hereditary Polyposis Syndromes.
Journal of gastrointestinal and liver diseases : JGLDThe Augmentation Pouch: Adding an S Pouch to a Straight Ileal-Anal Anastomosis.
ANZ journal of surgeryValidation of a Digital Tool That Uses National Testing Guidelines to Identify Individuals at Risk for Hereditary Cancer.
Journal of the National Comprehensive Cancer Network : JNCCNSporadic Desmoid-Type Fibromatosis of the Small Intestine Muscularis Propria: A Case Report.
CureusGenetic profiling of inherited colorectal cancer syndromes in Tunisian patients.
PloS oneMUC4-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 pathologyUpdates and controversies for desmoids in familial adenomatous polyposis.
Familial cancerEducational Case: Familial adenomatous polyposis.
Academic pathologyMulti-omic analysis identifies cholesterol metabolism related protein ARV1 as a novel biomarker for Colon adenocarcinoma patients with adenomatous polyposis.
Scandinavian journal of gastroenterologyHepatoid carcinoma of the pancreas in a patient with familial adenomatous polyposis.
BMJ case reportsDietary lipids, not ketone body metabolites, influence intestinal tumorigenesis in a ketogenic diet.
bioRxiv : the preprint server for biologyGastric Polyposis and Cancer in Western Patients With Familial Adenomatous Polyposis: Epidemiology, Detection, and Management.
Journal of the National Comprehensive Cancer Network : JNCCNRisk factors for recurrence after endoscopic papillectomy in ampullary adenomas: a retrospective case-control study.
Therapeutic advances in gastroenterologyChallenges in Diagnosing Cribriform Morular Thyroid Carcinoma.
JCEM case reportsHistomorphological 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 pathologyCase 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 oncologyThe efficacy of genetic counseling for familial colorectal cancer: A meta-analysis.
Journal of genetic counselingRobot-Assisted Multiquadrant Operation: Proctocolectomy and Abdominoperineal Resection Using the Da Vinci Xi for Familial Adenomatous Polyposis With Rectal Carcinoma.
CureusFamilial adenomatous polyposis: non-surgical management of large bowel disease: endoscopic and chemoprevention strategies.
Familial cancerRedefining familial adenomatous polyposis: competition, cooperation, and the path to monoclonality.
Familial cancerScreening and surveillance of hereditary upper GI cancers.
Best practice & research. Clinical gastroenterologyEmerging Strategies for Drug-Based Cancer Risk Reduction.
American Society of Clinical Oncology educational book. American Society of Clinical Oncology. Annual MeetingWorldwide Impact of Upper Gastrointestinal Disease in Familial Adenomatous Polyposis.
Diagnostics (Basel, Switzerland)Upper GI polyposis and cancer in FAP: diagnosis, surveillance and treatment.
Familial cancerA Closer Look: Familial Adenomatous Polyposis Suspected Through Ophthalmological Findings in an Adolescent.
CureusIleal pouch-anal anastomosis in familial adenomatous polyposis and ulcerative colitis with coexisting colorectal cancer: a guideline for treatment.
Journal of surgical case reportsFamilial polyposis syndrome and achalasia in a young adult.
JPGN reportsImpact of stool transplantation and metformin on polyp reduction and inflammation in an APC Min mouse model.
Intestinal research[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 & chemotherapyScreening at the scope: enhancing the role of pathologists in diagnosing gastrointestinal polyposis syndromes.
Virchows Archiv : an international journal of pathologyMental Health in Familial Adenomatous Polyposis: A Systematic Review.
Psycho-oncologyIntestinal transplantation in Familial Adenomatous Polyposis.
Familial cancerHereditary Colorectal Cancer: Clinical Implications of Genomic Medicine and Precision Oncology.
Journal of the anus, rectum and colonHereditary Colorectal Cancer: From Diagnosis to Surgical Options.
Clinics in colon and rectal surgeryIL-17A-producing NKp44(-) group 3 innate lymphoid cells accumulate in Familial Adenomatous Polyposis duodenal tissue.
Nature communicationsA Systematic Review of Cost-Effectiveness Studies on Pancreatic Cancer Screening.
Current oncology (Toronto, Ont.)Current Guidelines and Advances in the Management of Fundic Gland Polyps.
Journal of gastroenterology and hepatologyDecoding the genetic and environmental forces in propelling the surge of early-onset colorectal cancer.
Chinese medical journalGenetics, genomics and clinical features of adenomatous polyposis.
Familial cancerA review of APC somatic mosaicism and specific APC variants - I1307K and promotor variants.
Familial cancerPopulation Prevalence of the Major Thyroid Cancer-Associated Syndromes.
The Journal of clinical endocrinology and metabolismPhenotype Correlations With Pathogenic DNA Variants in the MUTYH Gene: A Review of Over 2000 Cases.
Human mutationReexamining Multisystem Desmoid Tumors Linked to Gardner's Syndrome: A Clinical Case.
Case reports in gastrointestinal medicineOne hundred years of the St Mark's hospital polyposis registry.
Familial cancerHereditary Colorectal Cancer Syndromes: Small Bowel Cancer Risk and Endoscopic Surveillance Strategies.
Diagnostics (Basel, Switzerland)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.)Guidelines for Familial Adenomatous Polyposis (FAP): challenges in defining clinical management for a rare disease.
Familial cancerControlling Oligopolyposis With Colonoscopy: A Cohort Study.
Diseases of the colon and rectumLong-read genome and RNA sequencing resolve a pathogenic intronic germline LINE-1 insertion in APC.
NPJ genomic medicineKMT2C mutation in sporadic cribriform morular thyroid carcinoma: A rare case report and review of literature.
The Journal of international medical researchRobot-Assisted Total Proctocolectomy for Familial Adenomatous Polyposis with Multiple Colorectal Cancers Using the Hugo RAS System.
Surgical case reportsA Rare Case of Dislodged Chemoport Catheter Entrapment in the Pulmonary Artery.
Case reports in vascular medicineRobotic 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 IrelandHepatoblastoma: From Molecular Mechanisms to Therapeutic Strategies.
Current oncology (Toronto, Ont.)An uncommon intersection: Familial adenomatous polyposis and solid pseudopapillary neoplasm of the pancreas: A case report and review of the literature.
Radiology case reportsRobotic proctocolectomy with ileal pouch-anal anastomosis: a hybrid approach.
International journal of colorectal diseaseOutcomes 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 TractAntitumor efficacy of intermittent low-dose erlotinib plus sulindac via MHC upregulation and remodeling of the immune cell niche.
International journal of cancerAssociações
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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.
- Longitudinal Surveillance of Gastric Polyposis in Familial Adenomatous Polyposis: Incidence, Progression, and Endoscopic Outcomes.
- Molecular and regional characterization of colorectal polyps: insights from proteomics, phosphoproteomics, and immune profiling.
- Prevalence and Consequences of APC Mosaicism in Patients With Colorectal Adenomas.
- Incidence of Cancer in Patients With Familial Adenomatous Polyposis in the Netherlands: A Nationwide Cohort Study.
- Cold snare polypectomy for 10-19 mm colorectal adenomas in familial adenomatous polyposis: a prospective randomized controlled trial.
- Diffuse Gastrointestinal Polyposis Revealing Mantle Cell Lymphoma: A Case Highlighting a Diagnostic Pitfall.
- Combination of a pesco vegetarian diet with non-steroidal anti-inflammatory drugs reduces colorectal cancer risk and modulates gut microbiota in PIRC rats.
- Multistage Management of Splenic Flexure Adenocarcinoma in Suspected MUTYH-Associated Polyposis: A Case Report.
- Pouch cancer in familial adenomatous polyposis. Incidence, risk factors and literature review: a propos of three rare cases.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:733(Orphanet)
- MONDO:0021055(MONDO)
- GARD:6408(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- 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
