ArticleJournal of gastroenterology2012
Juvenile polyposis, hereditary hemorrhagic telangiectasia, and early onset colorectal cancer in patients with SMAD4 mutation.
Article in Journal of gastroenterology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 1 of them a synthesis that pooled it.
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Who cites it
27 citing papers in PubMed, 1 synthesis or guideline pooled it, 56 citations in OpenAlex.
- Gastrointestinal Manifestations of Hereditary Hemorrhagic Telangiectasia (HHT): A Systematic Review of the Literature.Digestive diseases and sciences · 2017Pooled it
- Review
- Lung transplantation for diffuse pulmonary arteriovenous malformations associated with juvenile polyposis-hereditary hemorrhagic telangiectasia overlap syndrome: a case report.General thoracic and cardiovascular surgery cases · 2024Article
- Phenotypic characterisation ofJournal of medical genetics · 2024Observational
- SMAD4 variants and its genotype-phenotype correlations to juvenile polyposis syndrome.Hereditary cancer in clinical practice · 2023Review
- Hamartomatous polyps: Diagnosis, surveillance, and management.World journal of gastroenterology · 2023Review
- Clinical Guidelines for Diagnosis and Management of Juvenile Polyposis Syndrome in Children and Adults-Secondary Publication.Journal of the anus, rectum and colon · 2023Review
- Phenotypic diversity among juvenile polyposis syndrome patients from different ethnic background.Hereditary cancer in clinical practice · 2022Article
- Predictors of mortality in patients with hereditary hemorrhagic telangiectasia.Orphanet journal of rare diseases · 2021Article
- Article
- Juvenile polyposis syndrome-hereditary hemorrhagic telangiectasia associated with a SMAD4 mutation in a girl.Clinical journal of gastroenterology · 2020Article
- Juvenile polyposis syndrome might be misdiagnosed as familial adenomatous polyposis: a case report and literature review.BMC gastroenterology · 2020Review
- Risk Assessment and Genetic Testing for Inherited Gastrointestinal Syndromes.Gastroenterology & hepatology · 2019Article
- Massive juvenile polyposis of the stomach in a family with SMAD4 gene mutation.Familial cancer · 2019Article
- SMAD4 Deficiency Leads to Development of Arteriovenous Malformations in Neonatal and Adult Mice.Journal of the American Heart Association · 2018Article
- Juvenile Idiopathic Arthritis Associated with Combined JP-HHT Syndrome: A Novel Phenotype Associated with a Novel Variant inJournal of pediatric genetics · 2018Article
- TGF-β Family Signaling in Tumor Suppression and Cancer Progression.Cold Spring Harbor perspectives in biology · 2017Review
- Massive gastric polyposis associated with a germline SMAD4 gene mutation.Familial cancer · 2015Article
- Clinical management of hereditary colorectal cancer syndromes.Nature reviews. Gastroenterology & hepatology · 2015Review
- Appreciating the broad clinical features of SMAD4 mutation carriers: a multicenter chart review.Genetics in medicine : official journal of the American College of Medical Genetics · 2014Article
Corrections and comments
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Authors and funding
9 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundHereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder most often caused by mutation in the endoglin or ALK1 genes. A distinct syndrome combines the clinical features of HHT and juvenile polyposis (JP) and has been associated with SMAD4 mutation. The aim of this study was to describe the phenotype of patients with JP-HHT and SMAD4 mutations and to compare this phenotype with HHT or JP patients with mutations other than SMAD4.
methodsPatients prospectively enrolled in the Toronto HHT and JP databases who underwent genotyping were included. The phenotypic characteristics of JP-HHT patients with SMAD4 mutations and patients with mutations other than SMAD4 were analyzed and compared.
resultsThree hundred and fifty-eight patients underwent genetic testing (HHT, n = 332; JP, n = 26). Among fourteen patients identified with SMAD4 mutations, ten met the clinical diagnostic criteria for both JP and HHT (71%). Patients with SMAD4 mutations had 100% penetrance of the polyposis phenotype. All patients with JP and SMAD4 mutation had features of HHT. Three JP-HHT patients developed early onset colorectal cancer (CRC) (mean age 28 years). JP-HHT patients with SMAD4 mutation had a significantly higher rate of anemia than HHT patients with mutations other than SMAD4.
conclusionsPatients with HHT and SMAD4 mutations are at significant risk of JP and CRC. The gastrointestinal phenotype is similar to JP patients without SMAD4 mutation. It is essential for HHT patients to undergo genetic testing to determine if they have SMAD4 mutations so that appropriate gastrointestinal screening and surveillance for JP and CRC can be completed.
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