Document Detail


Pediatric juvenile polyposis syndromes: an update.
MedLine Citation:
PMID:  19463221     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Colon polyps are a common finding in pediatrics and can present with rectal bleeding, abdominal pain, or polyp prolapse from the rectum. Histologically classified as hamartomas, these isolated pediatric polyps lack epithelial dysplasia and have no cancer risk. However, when polyps are present in greater numbers, or are associated with a family history of polyps or colon or other cancers, a polyposis or hereditary colorectal cancer syndrome should be considered. Using a case-based format, this article reviews the clinical features and provides updates on the three most common hamartomatous polyp syndromes of childhood: juvenile polyposis syndrome, Peutz-Jeghers syndrome, and the PTEN hamartoma tumor syndrome. Each syndrome has distinctive intestinal and extra-intestinal findings that, when present, can guide genetic counseling and testing. Lifelong cancer surveillance is crucial to disease prevention and the long-term health of these patients and their families.
Authors:
Sherry C Huang; Steven H Erdman
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Current gastroenterology reports     Volume:  11     ISSN:  1534-312X     ISO Abbreviation:  Curr Gastroenterol Rep     Publication Date:  2009 Jun 
Date Detail:
Created Date:  2009-05-25     Completed Date:  2009-08-11     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  100888896     Medline TA:  Curr Gastroenterol Rep     Country:  United States    
Other Details:
Languages:  eng     Pagination:  211-9     Citation Subset:  IM    
Affiliation:
Department of Pediatrics, Ohio State University College of Medicine, Nationwide Children's Hospital, Columbus, OH 43205, USA.
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MeSH Terms
Descriptor/Qualifier:
Adenomatous Polyposis Coli / diagnosis*,  genetics
Adolescent
Biopsy
Bone Morphogenetic Protein Receptors, Type I / genetics
Child
Child, Preschool
Colonoscopy / methods
DNA, Neoplasm / genetics
Diagnosis, Differential
Female
Genetic Predisposition to Disease*
Hamartoma / diagnosis*,  genetics
Humans
Male
Mutation
PTEN Phosphohydrolase / genetics
Peutz-Jeghers Syndrome / diagnosis*,  genetics
Protein-Serine-Threonine Kinases / genetics
Smad4 Protein / genetics
Chemical
Reg. No./Substance:
0/DNA, Neoplasm; 0/SMAD4 protein, human; 0/Smad4 Protein; EC 2.7.1.-/STK11 protein, human; EC 2.7.1.37/BMPR1A protein, human; EC 2.7.11.1/Protein-Serine-Threonine Kinases; EC 2.7.11.30/Bone Morphogenetic Protein Receptors, Type I; EC 3.1.3.48/PTEN protein, human; EC 3.1.3.67/PTEN Phosphohydrolase

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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