Pediatric juvenile polyposis syndromes: an update.
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.
Huang
Sherry C
SC
Department of Pediatrics, Ohio State University College of Medicine, Nationwide Children's Hospital, Columbus, OH 43205, USA.
Erdman
Steven H
SH
D000091162:AMP-Activated Protein Kinase Kinases; D011125:Adenomatous Polyposis Coli / Q000175:diagnosis* / Q000235:genetics; D000293:Adolescent; D001706:Biopsy; D052005:Bone Morphogenetic Protein Receptors, Type I / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D003113:Colonoscopy / Q000379:methods; D004273:DNA, Neoplasm / Q000235:genetics; D003937:Diagnosis, Differential; D005260:Female; D020022:Genetic Predisposition to Disease; D006222:Hamartoma / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation; D051059:PTEN Phosphohydrolase / Q000235:genetics; D010580:Peutz-Jeghers Syndrome / Q000175:diagnosis* / Q000235:genetics; D017346:Protein Serine-Threonine Kinases / Q000235:genetics; D051901:Smad4 Protein / Q000235:genetics
D004273:DNA, Neoplasm; C497796:SMAD4 protein, human; D051901:Smad4 Protein; D017346:Protein Serine-Threonine Kinases; C109790:STK11 protein, human; D000091162:AMP-Activated Protein Kinase Kinases; C498211:BMPR1A protein, human; D052005:Bone Morphogenetic Protein Receptors, Type I; D051059:PTEN Phosphohydrolase; C494929:PTEN protein, human