Intestinal polyposis syndromes: progress in understanding and treatment.
OBJECTIVE
Dramatic advances in the understanding of the genetic basis for inherited diseases and in diagnosis and treatment are particularly applicable to intestinal polyposis. Recent contributions have impacted our understanding of the molecular basis for the disease and improved our ability to treat them.


RESULTS
Insights into the genetic basis of the spectrum of disease and refinement of genetic screening, diagnostic tests, and surgical management of intestinal polyposis and extraintestinal manifestations are reviewed.


CONCLUSIONS
Our understanding of the genetic basis for the intestinal polyposis syndromes remains incomplete, but recent studies have contributed to filling in significant gaps in our knowledge. Specific genetic alterations have been identified in the majority of the 30% of patients with familial adenomatous polyposis that do not test positive for mutations in the APC gene with routine testing. A novel gene ENG has been identified in a subgroup of patients with Peutz-Jegher's syndrome and a hypothesis has been proposed to explain the pathogenesis of the mucosal defects. Technological advancements in diagnosis and treatment include the use of capsule endoscopy for screening and the minimally invasive approach to total colectomy with ileoanal pullthrough. Treatment of desmoid tumors remains a challenge, but new chemotherapy regimens show some promise in treating this rare, but devastating, extraintestinal manifestation.
von Allmen
Daniel
D
Division of Pediatric Surgery, The University of North Carolina-Chapel Hill, Chapel Hill, North Carolina 27599-7223, USA. vonallme@med.unc.edu
D002648:Child; D018222:Desmoid Tumors / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery*; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D044483:Intestinal Polyposis / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery*; D010580:Peutz-Jeghers Syndrome / Q000150:complications / Q000235:genetics*; D013577:Syndrome