Raras
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Síndrome com polipose hiperplástica
ORPHA:157798CID-10 · D12.6CID-11 · 2E92.40DOENÇA RARA

A síndrome da polipose hiperplásica é uma doença intestinal genética rara caracterizada pela presença de múltiplos pólipos colorretais hiperplásicos/serrilhados (geralmente grandes), geralmente com distribuição pancolônica. A histologia revela pólipos hiperplásicos, adenomas serrilhados sésseis (mais comuns), adenomas serrilhados tradicionais ou pólipos mistos. Está associado a um risco pessoal e familiar aumentado (parentes de primeiro grau) de câncer colorretal.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

A síndrome da polipose hiperplásica é uma doença intestinal genética rara caracterizada pela presença de múltiplos pólipos colorretais hiperplásicos/serrilhados (geralmente grandes), geralmente com distribuição pancolônica. A histologia revela pólipos hiperplásicos, adenomas serrilhados sésseis (mais comuns), adenomas serrilhados tradicionais ou pólipos mistos. Está associado a um risco pessoal e familiar aumentado (parentes de primeiro grau) de câncer colorretal.

Publicações científicas
161 artigos
Último publicado: 2026

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
1-5 / 10 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Europe
Início
Adult
+ elderly
🏥
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

🦴
Ossos e articulações
3 sintomas
🫃
Digestivo
3 sintomas
🫘
Rins
1 sintomas
🩸
Sangue
1 sintomas

+ 7 sintomas em outras categorias

Características mais comuns

90%prev.
Polipose colorretal
Muito frequente (99-80%)
55%prev.
Polipose colônica adenomatosa
Frequente (79-30%)
55%prev.
Divertículo gástrico
Frequente (79-30%)
17%prev.
Neoplasia do intestino grosso
Ocasional (29-5%)
3%prev.
Melanoma
Raro (<5%)
3%prev.
Adenocarcinoma pancreático
Raro (<5%)
15sintomas
Muito frequente (1)
Frequente (2)
Ocasional (1)
Muito raro (10)
Sem dados (1)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 15 características clínicas mais associadas, ordenadas por frequência.

Polipose colorretalColorectal polyposis
Muito frequente (99-80%)90%
Polipose colônica adenomatosaAdenomatous colonic polyposis
Frequente (79-30%)55%
Divertículo gástricoGastric diverticulum
Frequente (79-30%)55%
Neoplasia do intestino grossoNeoplasm of the large intestine
Ocasional (29-5%)17%
Melanoma
Raro (<5%)3%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico161PubMed
Últimos 10 anos127publicações
Pico201718 papers
Linha do tempo
2026Hoje · 2026🧪 2013Primeiro ensaio clínico📈 2017Ano 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, Multigenic/multifactorial, Unknown.

RNF43E3 ubiquitin-protein ligase RNF43Disease-causing germline mutation(s) inTolerante
FUNÇÃO

E3 ubiquitin-protein ligase that acts as a negative regulator of the Wnt signaling pathway by mediating the ubiquitination, endocytosis and subsequent degradation of Wnt receptor complex components Frizzled. Acts on both canonical and non-canonical Wnt signaling pathway (PubMed:18313049, PubMed:22575959, PubMed:22895187). Along with RSPO2 and ZNRF3, constitutes a master switch that governs limb specification (By similarity)

LOCALIZAÇÃO

Cell membraneEndoplasmic reticulum membraneNucleus envelope

VIAS BIOLÓGICAS (1)
Regulation of FZD by ubiquitination
MECANISMO DE DOENÇA

Sessile serrated polyposis cancer syndrome

A rare disease characterized by multiple and/or large serrated polyps developing in the colon, and an increased personal and familial risk of colorectal cancer. A patient is diagnosed with SSPCS if at least one of the following criteria is met: the presence of at least five sessile serrated polyps proximal to the sigmoid colon, two of which are greater than 10 mm in diameter; the presence of any number of serrated polyps occurring proximal to the sigmoid colon in an individual who has a first-degree relative with serrated polyposis; the presence of more than 20 serrated polyps of any size distributed throughout the colon. Sessile serrated polyps are also known as sessile serrated adenomas (SSA) and are estimated to be responsible for 20 to 35% of all colon cancers. Individuals with SSPCS may have a strong personal or family history of extracolonic cancers.

EXPRESSÃO TECIDUAL(Ubíquo)
Cerebelo
14.8 TPM
Cérebro - Hemisfério cerebelar
14.7 TPM
Skin Sun Exposed Lower leg
14.6 TPM
Skin Not Sun Exposed Suprapubic
13.8 TPM
Próstata
13.7 TPM
OUTRAS DOENÇAS (2)
sessile serrated polyposis cancer syndromehyperplastic polyposis syndrome
HGNC:18505UniProt:Q68DV7

Variantes genéticas (ClinVar)

210 variantes patogênicas registradas no ClinVar.

🧬 RNF43: NM_017763.6(RNF43):c.582+1G>A ()
🧬 RNF43: NM_017763.6(RNF43):c.1794_1798del (p.Thr599fs) ()
🧬 RNF43: NM_017763.6(RNF43):c.1433_1434del (p.Ser478fs) ()
🧬 RNF43: NM_017763.6(RNF43):c.1969dup (p.Arg657fs) ()
🧬 RNF43: NM_017763.6(RNF43):c.913C>T (p.Gln305Ter) ()
Ver todas no ClinVar

Vias biológicas (Reactome)

2 vias biológicas associadas aos genes desta condição.

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.
·Pré-clínico4
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 4 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

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

🇧🇷 Atendimento SUS — Síndrome com polipose hiperplástica

🗺️

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

Pesquisa e ensaios clínicos

5 ensaios clínicos encontrados.

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

Timeline de publicações
128 papers (10 anos)
#1

Low Yield of Genetic Testing in Serrated Polyposis Syndrome.

Clinical and translational gastroenterology2025 Nov 01

Serrated polyposis syndrome (SPS) is clinically defined by the presence of multiple serrated polyps in the colon and rectum, and is associated with increased colorectal cancer risk. SPS is the most prevalent polyposis condition; however, its genetic basis remains poorly characterized. The British Society of Gastroenterology recommends gene panel testing for all patients with SPS to rule out other polyposis conditions. The aim of this study was to evaluate the diagnostic yield of genetic testing in patients with SPS. We conducted a retrospective, cross-sectional analysis using the Polyposis Registry from St. Mark's Hospital, London, a national referral center in the United Kingdom. Patients with SPS who underwent genetic testing between April 4, 2009 and February 9, 2024, and met the SPS WHO criteria were included. Genetic variants were identified from test reports, and clinical data were extracted from medical records. In total, 573 people with SPS were identified in our registry, of whom 258 underwent genetic testing. Of these, 119 underwent target gene testing and 139 underwent multigene panel testing. No pathogenic variants were detected through targeted genetic testing. On multigene panel testing, pathogenic germline variants were found in 4 patients (2.9%), including 3 with Lynch syndrome (2 with PMS2 , one with MSH2 ) and one with an RNF43 variant. Genetic testing demonstrated a low diagnostic yield in this SPS cohort, suggesting undefined genetic risk or involvement of other pathophysiological factors. Therefore, genetic testing seems to have limited utility in patients with SPS and may primarily identify those with an incidental diagnosis of Lynch syndrome.

#2

Two duodenal sessile serrated lesions in a patient with serrated polyposis syndrome: case report and review of the literature.

Clinical journal of gastroenterology2025 Oct

The serrated neoplastic pathway has been reported to be involved in the development of colorectal cancer, and serrated lesions are recognized to have malignant potential. Recently, serrated lesions of the duodenum have been increasingly reported. Serrated polyposis syndrome (SPS) is characterized by multiple serrated lesions in the colon; however, it is unknown whether serrated lesions in the duodenum occur in patients with SPS. A 58-year-old man with SPS underwent a routine colonoscopy. When he underwent esophagogastroduodenoscopy for screening, two 4-mm white flat-elevated lesions in the second portion of the duodenum were found. The biopsy results were suggestive of sessile serrated lesions (SSLs); therefore, we performed endoscopic mucosal resection with a cap-fitted pan-endoscope for therapeutic purposes. Pathology results showed an SSL in the duodenum. One SSL lesion was positive for the BRAF mutation; multiple duodenal SSLs in patients with SPS are rare, and there are no previous reports of BRAF mutation-positive SSLs. The grade and molecular abnormalities of duodenal SSLs are currently unknown, as is the relationship between SPS and duodenal SSL. Further case accumulation is expected.

#3

Overview of serrated polyposis syndrome from pathophysiology, diagnosis, and management.

World journal of clinical oncology2025 Apr 24

This editorial discusses Thompson et al's original article, which is published in the most recent edition of the World Journal of Clinical Oncology and sheds critical light on the intertwined issues of health anxiety and work loss in individuals diagnosed with serrated polyposis syndrome (SPS). SPS is rare, characterized by the development of multiple serrated colorectal polyps. This editorial provides an overview of SPS, including its pathophysiology, clinical presentation, diagnostic criteria, management strategies, and the psychosocial impact. SPS is linked to molecular alterations, which drive carcinogenesis. Colonoscopy and histological analysis are used for diagnosis. Genetic testing is also considered where there is a family history. Quality of life can be greatly impacted by the psychosocial effects of SPS, especially health anxiety. Further understanding of the molecular mechanisms and creating individualized surveillance are required.

#4

Microbiota and metabolite-based prediction tool for colonic polyposis with and without a known genetic driver.

Gut microbes2025 Dec

Despite extensive investigations into the microbiome and metabolome changes associated with colon polyps and colorectal cancer (CRC), the microbiome and metabolome profiles of individuals with colonic polyposis, including those with (Gene-pos) and without (Gene-neg) a known genetic driver, remain comparatively unexplored. Using colon biopsies, polyps, and stool from patients with Gene-pos adenomatous polyposis (N = 9), Gene-neg adenomatous polyposis (N = 18), and serrated polyposis syndrome (SPS, N = 11), we demonstrated through 16S rRNA sequencing that the mucosa-associated microbiota in individuals with colonic polyposis is representative of the microbiota associated with small polyps, and that both Gene-pos and SPS cohorts exhibit differential microbiota populations relative to Gene-neg polyposis cohorts. Furthermore, we used these differential microbiota taxa to perform linear discriminant analysis to differentiate Gene-neg subjects from Gene-pos and from SPS subjects with an accuracy of 89% and 93% respectively. Stool metabolites were quantified via 1H NMR, revealing an increase in alanine in SPS subjects relative to non-polyposis subjects, and Partial Least Squares Discriminant Analysis (PLS-DA) analysis indicated that the proportion of leucine to tyrosine in fecal samples may be predictive of SPS. Use of these microbial and metabolomic signatures may allow for better diagnostric and risk-stratification tools for colonic polyposis patients and their families as well as promote development of microbiome-targeted approaches for polyp prevention.

#5

Health anxiety and work loss in patients diagnosed with serrated polyposis syndrome: A cross sectional study.

World journal of clinical oncology2025 Feb 24

Serrated polyposis syndrome (SPS) is a polyposis condition with neoplastic potential, but its psychological impact is not well understood. To assess health anxiety prevalence in a regional Australian cohort of SPS patients and explore factors influencing it, including workforce impacts of regular surveillance. This cross-sectional study screened patients aged 18-65 undergoing colonoscopy in a regional gastroenterology practice between January 2015 and June 2022. Eligible SPS patients were invited to participate. Data included the Short Health Anxiety Inventory, employment status, and previous demographic and medical findings. Health anxiety was found in 21.57% of SPS patients, with anxious patients being significantly more concerned about surveillance (OR = 7.70). Patients lost an average of 11.04 work hours per colonoscopy. Health anxiety in SPS patients aligns with rates in other gastroenterology populations. Identifying it may improve management, though further research is needed to better understand prevalence and care improvements.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC116 artigos no totalmostrando 125

2025

Low Yield of Genetic Testing in Serrated Polyposis Syndrome.

Clinical and translational gastroenterology
2025

Determinants of high sessile serrated lesion detection: Role of faecal occult blood test and colonoscopy quality indicators.

World journal of gastrointestinal endoscopy
2025

Two duodenal sessile serrated lesions in a patient with serrated polyposis syndrome: case report and review of the literature.

Clinical journal of gastroenterology
2025

Germline pathogenic variants in HIC1 DNA binding domains are associated with familial serrated polyposis syndrome.

International journal of cancer
2025

Overview of serrated polyposis syndrome from pathophysiology, diagnosis, and management.

World journal of clinical oncology
2025

Microbiota and metabolite-based prediction tool for colonic polyposis with and without a known genetic driver.

Gut microbes
2025

Health anxiety and work loss in patients diagnosed with serrated polyposis syndrome: A cross sectional study.

World journal of clinical oncology
2025

Cancer pathways in serrated polyposis syndrome: is conventional more crucial than serrated?

Journal of gastroenterology
2024

Germline pathogenic variants in RNF43 in patients with and without serrated polyposis syndrome.

Familial cancer
2024

[Familial occurrence of colorectal cancer: prevention, aftercare and genetic counseling].

Praxis
2024

Germline Variants in DNA Interstrand-Cross Link Repair Genes May Contribute to Increased Susceptibility for Serrated Polyposis Syndrome.

International journal of molecular sciences
2024

Genetic Testing of Japanese Patients with Serrated Polyposis Syndrome: A Multicentric Study.

Journal of the anus, rectum and colon
2024

Using a Population Database to Assess Lifestyle Factors in Serrated Polyposis Syndrome and Sporadic Sessile Serrated Lesions.

Gastro hep advances
2024

Serrated polyposis syndrome: defining the epidemiology and predicting the risk of dysplasia.

BMC gastroenterology
2024

Evaluation of EGFR and COX pathway inhibition in human colon organoids of serrated polyposis and other hereditary cancer syndromes.

Familial cancer
2024

Pathology of Gastrointestinal Polyposis Disorders.

Gastroenterology clinics of North America
2024

Inherited BRCA1 and RNF43 pathogenic variants in a familial colorectal cancer type X family.

Familial cancer
2024

Feasibility and Safety of Endoscopic Control for Patients with Serrated Polyposis Syndrome.

Digestive diseases (Basel, Switzerland)
2023

Frequency of serrated polyposis syndrome recognition by community endoscopists.

Endoscopy international open
2023

Polyps and Colorectal Cancer in Serrated Polyposis Syndrome: Contribution of the Classical Adenoma-Carcinoma and Serrated Neoplasia Pathways.

Clinical and translational gastroenterology
2023

Small Colon Polyp With Unusual Thickening of the Surrounding Mucosa in a Young Patient.

Gastroenterology
2023

Appendiceal lesions in serrated polyposis patients are easily overlooked but only seldomly lead to colorectal cancer.

Endoscopy
2023

Unraveling the impact of a germline heterozygous POLD1 frameshift variant in serrated polyposis syndrome.

Frontiers in molecular biosciences
2023

Impact of changing diagnostic criteria on the diagnosis of serrated polyposis syndrome.

Endoscopy international open
2022

Body Mass Index, sex, non-steroidal anti-inflammatory drug medications, smoking and alcohol are differentially associated with World Health Organisation criteria and colorectal cancer risk in people with Serrated Polyposis Syndrome: an Australian case-control study.

BMC gastroenterology
2022

Pure somatic pathogenic variation profiles for patients with serrated polyposis syndrome: a case series.

BMC research notes
2023

Germline mutations in WNK2 could be associated with serrated polyposis syndrome.

Journal of medical genetics
2022

Serrated polyposis syndrome; epidemiology and management.

Best practice &amp; research. Clinical gastroenterology
2022

Serrated Polyposis Syndrome in a Young Adolescent Patient.

Journal of pediatric gastroenterology and nutrition
2022

Promotion Effects of Smoking in Polyp Development in Monozygotic Twins with Atypical Colorectal Polyposis.

Case reports in gastroenterology
2021

Serrated polyps: innocent or guilty?

Revista de gastroenterologia del Peru : organo oficial de la Sociedad de Gastroenterologia del Peru
2022

Epigenome-Wide DNA Methylation Profiling of Normal Mucosa Reveals HLA-F Hypermethylation as a Biomarker Candidate for Serrated Polyposis Syndrome.

The Journal of molecular diagnostics : JMD
2022

Synchronized early gastric cancer occurred in a patient with serrated polyposis syndrome: A case report.

World journal of clinical cases
2022

Clinicopathological Correlates of Dysplastic Sessile Serrated Lesion: A Prospective Cohort Study With a High Detection Rate.

Gastro hep advances
2022

Serrated polyposis syndrome with multiple inverted lesions in the colon: Case report and elucidation of morphogenetic mechanism.

DEN open
2022

Clinicopathological characteristics of colorectal serrated polyposis syndrome (SPS): results of a multicenter study by the SPS Study Group in Japan.

Journal of gastroenterology
2022

Colorectal carcinoma occurring via the adenoma-carcinoma pathway in patients with serrated polyposis syndrome.

Journal of gastroenterology
2022

Germline variant testing in serrated polyposis syndrome.

Journal of gastroenterology and hepatology
2022

Current Approaches in Managing Colonic Serrated Polyps and Serrated Polyposis.

Annual review of medicine
2021

Genotypic and Phenotypic Characteristics of Hereditary Colorectal Cancer.

Annals of coloproctology
2022

Cancer Risk in Patients With and Relatives of Serrated Polyposis Syndrome and Sporadic Sessile Serrated Lesions.

The American journal of gastroenterology
2021

Serrated polyps and polyposis of the colon: a brief review for surgeon endoscopists.

Canadian journal of surgery. Journal canadien de chirurgie
2022

Prevalence of adenomatous polyposis in a fecal immunochemical test-based colorectal cancer screening program and risk of advanced neoplasia during follow-up.

Endoscopy
2021

A Rare Case of Serrated Polyposis Syndrome with the MSH6 and SMARCA4 variants.

European journal of case reports in internal medicine
2021

Diagnosis, epidemiology and management of serrated polyposis syndrome: a comprehensive review of the literature.

American journal of translational research
2022

Risk of Colorectal Cancer in Serrated Polyposis Syndrome: A Systematic Review and Meta-analysis.

Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association
2021

Ulcerative Colitis With Concomitant Serrated Polyposis Syndrome: A Case Report and Literature Review.

Cureus
2021

Safety and efficacy of band ligation and auto-amputation as adjunct to EMR of colonic large laterally spreading tumors, and polyps not amenable to routine polypectomy.

Therapeutic advances in gastrointestinal endoscopy
2022

Appendoscopy in patients with serrated polyposis syndrome.

Gut
2021

Long-Term Incidence of Advanced Colorectal Neoplasia in Patients with Serrated Polyposis Syndrome: Experience in a Single Academic Centre.

Cancers
2021

Germline and Somatic Whole-Exome Sequencing Identifies New Candidate Genes Involved in Familial Predisposition to Serrated Polyposis Syndrome.

Cancers
2021

Long-Term Outcomes of Patients with Serrated Polyposis Syndrome.

Gastroenterology
2021

[Gastrointestinal polyposis syndromes].

Der Internist
2020

Long-term surveillance in individuals with serrated polyposis syndrome.

Gastrointestinal endoscopy
2021

RNF43 mutation analysis in serrated polyposis, sporadic serrated polyps and Lynch syndrome polyps.

Histopathology
2020

Serrated Polyposis Syndrome with a Synchronous Colon Adenocarcinoma Treated by an Endoscopic Mucosal Resection.

The Korean journal of gastroenterology = Taehan Sohwagi Hakhoe chi
2020

Serrated Polyposis Syndrome: Increasing Awareness and Importance.

Cureus
2021

Is it time to consider prophylactic appendectomy in patients with serrated polyposis syndrome undergoing surveillance?

Gut
2021

First case of serrated lesion of the duodenal papilla in a patient with serrated colonic polyposis.

Clinics and research in hepatology and gastroenterology
2020

Neoplastic meningitis due to colorectal cancer.

Clinical journal of gastroenterology
2020

A natural language-based tool for diagnosis of serrated polyposis syndrome.

Gastrointestinal endoscopy
2020

The long-term outcomes and natural disease course of serrated polyposis syndrome: over 10 years of prospective follow-up in a specialized center.

Gastrointestinal endoscopy
2020

Narrow-band imaging and high-definition white-light endoscopy in patients with serrated lesions not fulfilling criteria for serrated polyposis syndrome: a randomized controlled trial with tandem colonoscopy.

BMC gastroenterology
2020

Colorectal cancer genetic variants are also associated with serrated polyposis syndrome susceptibility.

Journal of medical genetics
2020

A Multi-Institutional Cohort of Therapy-Associated Polyposis in Childhood and Young Adulthood Cancer Survivors.

Cancer prevention research (Philadelphia, Pa.)
2020

Update on the World Health Organization Criteria for Diagnosis of Serrated Polyposis Syndrome.

Gastroenterology
2020

Ocular manifestations in celiac disease: an overview.

International ophthalmology
2020

The (ir)relevance of the abandoned criterion II for the diagnosis of serrated polyposis syndrome: a retrospective cohort study.

Familial cancer
2019

Hereditary or Not? Understanding Serrated Polyposis Syndrome.

Current treatment options in gastroenterology
2019

Identification of a Novel Candidate Gene for Serrated Polyposis Syndrome Germline Predisposition by Performing Linkage Analysis Combined With Whole-Exome Sequencing.

Clinical and translational gastroenterology
2019

Practical management of polyposis syndromes.

Frontline gastroenterology
2020

Optimal Endoscopic Treatment and Surveillance of Serrated Polyps.

Gut and liver
2020

Serrated Polyposis Syndrome.

Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association
2019

Low Incidence of Advanced Neoplasia in Serrated Polyposis Syndrome After (Sub)total Colectomy: Results of a 5-Year International Prospective Cohort Study.

The American journal of gastroenterology
2019

Serrated polyposis syndrome: time to rethink endoscopic treatment and surveillance.

Gastrointestinal endoscopy
2019

Endocuff-assisted colonoscopy for surveillance of serrated polyposis syndrome: a multicenter randomized controlled trial.

Endoscopy
2020

Personalised surveillance for serrated polyposis syndrome: results from a prospective 5-year international cohort study.

Gut
2019

[French comment on article High incidence of advanced colorectal neoplasia during endoscopic surveillance in serrated polyposis syndrome].

Endoscopy
2019

Screening Relevance of Sessile Serrated Polyps.

Clinical endoscopy
2019

BRAF mutation: Current and future clinical pathological applications in colorectal carcinoma.

Histology and histopathology
2019

High prevalence of advanced colorectal neoplasia and serrated polyposis syndrome in Hodgkin lymphoma survivors.

Cancer
2019

Reasons why the diagnosis of serrated polyposis syndrome is missed.

European journal of gastroenterology &amp; hepatology
2019

Endoscopic control of polyp burden and expansion of surveillance intervals in serrated polyposis syndrome.

Gastrointestinal endoscopy
2019

Diagnosis of Serrated Polyposis Syndrome in an Adolescent Patient.

Clinical pediatrics
2018

[French comment on article The clinical significance and synchronous polyp burden of large (≥ 20mm) sessile serrated polyps in patients without serrated polyposis syndrome].

Endoscopy
2019

Panchromoendoscopy Increases Detection of Polyps in Patients With Serrated Polyposis Syndrome.

Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association
2018

Adenocarcinoma of the anal canal with an exceptional immunohistochemistry in a patient with serrated polyposis syndrome: a diagnostic challenge.

Revista espanola de enfermedades digestivas
2019

High incidence of advanced colorectal neoplasia during endoscopic surveillance in serrated polyposis syndrome.

Endoscopy
2018

Acetic acid spray contribution in the endoscopic diagnosis of serrated polyposis syndrome.

VideoGIE : an official video journal of the American Society for Gastrointestinal Endoscopy
2018

The clinical significance and synchronous polyp burden of large (≥ 20 mm) sessile serrated polyps in patients without serrated polyposis syndrome.

Endoscopy
2018

Serrated Polyposis Syndrome in a Single-Center 10-Year Experience.

Balkan medical journal
2018

Hereditary gastrointestinal carcinomas and their precursors: An algorithm for genetic testing.

Seminars in diagnostic pathology
2017

Exome sequencing characterizes the somatic mutation spectrum of early serrated lesions in a patient with serrated polyposis syndrome (SPS).

Hereditary cancer in clinical practice
2018

Pathology and genetics of hereditary colorectal cancer.

Pathology
2017

Multiple Serrated Polyps and Serrated Polyposis Syndrome: Equally Hazardous?

Gastroenterology
2018

Serrated polyposis syndrome may go undiagnosed even in structured colorectal cancer screening programmes performed by endoscopists with otherwise good quality indices.

Gut
2017

Serrated polyposis syndrome associated with long-standing inflammatory bowel disease.

Revista espanola de enfermedades digestivas
2017

Clinical predictors for sessile serrated polyposis syndrome: A case control study.

World journal of gastrointestinal endoscopy
2017

Clinical characteristics of patients with serrated polyposis syndrome in Korea: comparison with Western patients.

Intestinal research
2017

Serrated lesions and serrated polyposis syndrome.

Revista espanola de enfermedades digestivas
2017

Hereditary Colorectal Cancer Syndromes.

The Surgical clinics of North America
2017

Gastrointestinal tract cancers: Genetics, heritability and germ line mutations.

Oncology letters
2017

British Society of Gastroenterology position statement on serrated polyps in the colon and rectum.

Gut
2017

Increased Risk of Colorectal Cancer in Patients With Multiple Serrated Polyps and Their First-Degree Relatives.

Gastroenterology
2017

A Case with Serrated Polyposis Syndrome Controlled by Multiple Applications of Endoscopic Mucosal Resection and Endoscopic Submucosal Dissection.

The American journal of case reports
2017

Reducing the polyp burden in serrated polyposis by serial colonoscopy: the impact of nationally coordinated community surveillance.

The New Zealand medical journal
2017

[French comment on article Reassessment colonoscopy to diagnose serrated polyposis syndrome in a colorectal cancer screening population].

Endoscopy
2016

Serrated Polyps and Serrated Polyposis Syndrome.

Clinics in colon and rectal surgery
2016

Novel findings in colorectal polyp surveillance.

Gastroenterologia y hepatologia
2017

Prevalence of serrated polyposis syndrome in an FIT-based colorectal cancer screening cohort in Italy.

Gut
2016

[Research progress of serrated polyposis syndrome].

Zhonghua wei chang wai ke za zhi = Chinese journal of gastrointestinal surgery
2017

Reassessment colonoscopy to diagnose serrated polyposis syndrome in a colorectal cancer screening population.

Endoscopy
2017

Lack of evidence for germline RNF43 mutations in patients with serrated polyposis syndrome from a large multinational study.

Gut
2016

Gene Signature in Sessile Serrated Polyps Identifies Colon Cancer Subtype.

Cancer prevention research (Philadelphia, Pa.)
2017

Detection rate of serrated polyps and serrated polyposis syndrome in colorectal cancer screening cohorts: a European overview.

Gut
2016

Serrated polyposis syndrome: risk stratification or reduction?

Gut
2016

Serrated polyposis syndrome: a silent killer when undetected.

Endoscopy
2015

[A Case of Serrated Polyposis Syndrome with Early Colon Cancer].

Gan to kagaku ryoho. Cancer &amp; chemotherapy
2017

Clinical risk factors of colorectal cancer in patients with serrated polyposis syndrome: a multicentre cohort analysis.

Gut
2016

Endoscopic and histologic findings in serrated polyposis syndrome.

Gastrointestinal endoscopy
2016

Colorectal cancer risk factors in patients with serrated polyposis syndrome: a large multicentre study.

Gut
2015

Low prevalence of serrated polyposis syndrome in screening populations: a systematic review.

Endoscopy
2015

Clinicopathological Characteristics of Serrated Polyposis Syndrome in Korea: Single Center Experience.

Gastroenterology research and practice
2015

A morphologic reappraisal of endoscopically but not histologically apparent polyps and the emergence of the overlooked goblet cell--rich hyperplastic polyp.

Human pathology
2015

[The danger of serrated polyps in the colon: from sporadic polyp to polyposis syndrome].

Nederlands tijdschrift voor geneeskunde

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

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Comunidades

Grupos ativos de quem convive com esta doença aqui no Raras

Ainda não existe comunidade no Raras para Síndrome com polipose hiperplástica

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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. Low Yield of Genetic Testing in Serrated Polyposis Syndrome.
    Clinical and translational gastroenterology· 2025· PMID 41002021mais citado
  2. Two duodenal sessile serrated lesions in a patient with serrated polyposis syndrome: case report and review of the literature.
    Clinical journal of gastroenterology· 2025· PMID 40643790mais citado
  3. Overview of serrated polyposis syndrome from pathophysiology, diagnosis, and management.
    World journal of clinical oncology· 2025· PMID 40290679mais citado
  4. Microbiota and metabolite-based prediction tool for colonic polyposis with and without a known genetic driver.
    Gut microbes· 2025· PMID 40069167mais citado
  5. Health anxiety and work loss in patients diagnosed with serrated polyposis syndrome: A cross sectional study.
    World journal of clinical oncology· 2025· PMID 39995560mais citado
  6. Identifying Serrated Polyposis Syndrome in a Large Health-Care System.
    Gastro Hep Adv· 2026· PMID 41908324recente
  7. Determinants of high sessile serrated lesion detection: Role of faecal occult blood test and colonoscopy quality indicators.
    World J Gastrointest Endosc· 2025· PMID 40838154recente
  8. Germline pathogenic variants in HIC1 DNA binding domains are associated with familial serrated polyposis syndrome.
    Int J Cancer· 2025· PMID 40444741recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:157798(Orphanet)
  2. MONDO:0015524(MONDO)
  3. GARD:16982(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. Q55781391(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

Síndrome com polipose hiperplástica
Compêndio · Raras BR

Síndrome com polipose hiperplástica

ORPHA:157798 · MONDO:0015524
Prevalência
1-5 / 10 000
Herança
Autosomal dominant, Multigenic/multifactorial, Unknown
CID-10
D12.6 · Neoplasia benigna do cólon, não especificada
CID-11
Início
Adult, Elderly
Prevalência
0.0 (Europe)
MedGen
UMLS
C0236048
EuropePMC
Wikidata
Papers 10a
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