Familial polyposis syndromes
Juvenile polyposis syndrome
Reviewers: Charanjeet Singh, M.D. (see Reviewers page)
Revised: 15 October 2011, last major update September 2011
Copyright: (c) 2003-2011, PathologyOutlines.com, Inc.
● Also called juvenile polyposis coli
● Autosomal dominant with incomplete penetrance (OMIM 174900)
● Associated with adenomatous polyps and adenocarcinoma of colon (30-40%), duodenum, stomach and pancreas
● Diagnostic criteria: (a) 6 or more colorectal juvenile polyps, (b) juvenile polyps throughout entire GI tract or (c) any number of polyps in a patient with a family history of juvenile polyposis (Histopathology 1988;13:619)
● Rare lethal form occurs in infancy, associated with diarrhea, anemia and hypoalbuminemia
● Rarely presents with GI hemorrhage (Am J Gastroenterol 2000;95:543)
● Repeated endoscopic polypectomies and surgery
● Screening of family members
● Polyps have juvenile and adenomatous features
● Often complex glandular structures
Dilated glands and inflammatory cells
● Often p53 and Ki-67 >50% (Arkh Patol 2004;66:28)
● Often mutations in PTEN, SMAD4/DPC4/MADH4 (19%, J Mol Diagn 2006;8:84), BMPR1A (11%)
● Also deletions in PTEN and BMPR1A (Am J Hum Genet 2006;78:1066)
● No loss of APC (Pediatr Res 2005;57:4)
End of Colon tumor > Familial polyposis syndromes > Juvenile polyposis syndrome
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