Hereditary Mixed Polyposis Syndrome and Multiple Adenoma Patients

2010 ◽  
pp. 401-408
Author(s):  
Huw Thomas
Keyword(s):  
Polyposis Syndrome ◽  
Multiple Adenoma

Serrated polyposis syndrome and the role of serrated polyps in colorectal cancer development

2012 ◽  
Vol 1 (1) ◽  
pp. 37-47
Author(s):  
Karam Singh Boparai ◽  
Yark Hazewinkel ◽  
Evelien Dekker
Keyword(s):  
Colorectal Cancer ◽  
Cancer Development ◽  
Polyposis Syndrome ◽  
Serrated Polyps

SMAD4 juvenile polyposis syndrome and hereditary haemorrhagic telangiectasia presenting in a middle-aged man as a large fungating gastric mass, polyposis in both upper and lower GI tract and iron deficiency anaemia, with no known family history

2020 ◽  
Vol 13 (12) ◽  
pp. e236855
Author(s):  
Wendy Chang ◽  
Patricia Renaut ◽  
Casper Pretorius
Keyword(s):  
Family History ◽  
Autosomal Dominant ◽  
Signs And Symptoms ◽  
Juvenile Polyposis ◽  
Hereditary Haemorrhagic Telangiectasia ◽  
Gi Tract ◽  
Juvenile Polyposis Syndrome ◽  
Polyposis Syndrome ◽  
History Of ◽  
Gastric Mass

Juvenile polyposis syndrome (JPS) and hereditary haemorrhagic telangiectasia (HHT) are rare autosomal dominant diseases, where symptoms manifest at childhood. A 32-year-old man with no family history of JPS or HHT with SMAD4 gene mutation who developed signs and symptoms only at the age of 32, when he was an adult. In this article, we highlight the steps taken to diagnose this rare pathology, explain its pathophysiology and management.

scholarly journals O57 The value of germline mutation testing in serrated polyposis syndrome

2021 ◽  
Author(s):  
Sujata Biswas ◽  
Michael Johnson ◽  
Adam Bailey ◽  
Elizabeth Bird-Lieberman ◽  
Simon Leedham ◽  
...  
Keyword(s):  
Germline Mutation ◽  
Mutation Testing ◽  
Polyposis Syndrome

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

Cancers ◽  
2021 ◽  
Vol 13 (5) ◽  
pp. 1066
Author(s):  
Daniel Rodríguez-Alcalde ◽  
Guillermo Castillo-López ◽  
Jorge López-Vicente ◽  
Luis Hernández ◽  
Mercedes Lumbreras-Cabrera ◽  
...  
Keyword(s):  
Total Colectomy ◽  
Colorectal Neoplasia ◽  
Elevated Risk ◽  
Advanced Adenoma ◽  
Polyposis Syndrome ◽  
Serrated Polyp ◽  
Advanced Colorectal Neoplasia ◽  
Median Interval

Serrated polyposis syndrome (SPS) implies a slightly elevated risk of colorectal cancer (CRC) during endoscopic follow-up, but its natural course is still not well known. The main objective of this study was to describe the long-term risk of developing advanced neoplasia (AN) in these patients. Until October 2020, individuals who fulfilled 2010 WHO criteria I and/or III for SPS were retrospectively recruited. We selected those under endoscopic surveillance after resection of all lesions >3 mm in a high-quality colonoscopy. We excluded patients with total colectomy at diagnosis and those with any interval between colonoscopies >3.5 years. We defined AN as advanced serrated polyp (≥10 mm and/or with dysplasia), advanced adenoma, or CRC. In 109 patients, 342 colonoscopies were performed (median = 3, median interval = 1.8 years) during a median follow-up after colonic clearance of 5.0 years. Five-year cumulative incidences of AN were 21.6% globally, and 5.6%, 10.8%, and 50.8% in patients who fulfilled criterion I, III, and both, respectively (p < 0.001). No CRC was diagnosed and only 1 (0.9%) patient underwent surgery. In conclusion, cumulative incidences of AN could be lower than previously described, at least in patients who fulfil the 2010 WHO criterion III alone. Therefore, low-risk individuals might benefit from less stringent surveillance.

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