The influence of mutation site and age on the severity of duodenal polyposis in patients with familial adenomatous polyposis

Gastrointest Endosc. 2002 Mar;55(3):342-7. doi: 10.1067/mge.2002.121882.


Background: The present study was undertaken to identify factors affecting the severity of the duodenojejunal polyposis in patients with familial adenomatous polyposis.

Methods: Duodenojejunal polyposis was evaluated in 41 consecutive patients with familial adenomatous polyposis (mean age 41 years, range 21-63 years), 33 (80%) with known APC mutation, by using a standardized endoscopic protocol. The severity of the polyposis was graded with the Spigelman scoring system (0-12 points), the Spigelman score/age ratio, and the presence or absence of advanced adenomas (>1 cm in diameter and/or high-grade dysplasia).

Results: The Spigelman score (median 8, range 3-12) was higher in patients older than 50 years (median 10, range 3-12) as compared with younger patients (median 7.5, range 3-11; p = 0.043). A significant association between age and the presence of advanced adenomas was also observed. Patients with a mutation in the central part of the APC gene (codons 279-1309) had a higher Spigelman score and Spigelman score/age ratio as compared with patients with other mutations: median Spigelman score/age ratio 0.21 (range 0.14-0.40) versus 0.10 (range 0.06-0.20) (p < 0.001).

Conclusions: Older age and APC mutation in the central part of the gene are risk factors for the development of severe duodenojejunal polyposis.

MeSH terms

  • Adenomatous Polyposis Coli / classification
  • Adenomatous Polyposis Coli / genetics*
  • Adenomatous Polyposis Coli / pathology
  • Adult
  • Age Factors
  • Codon
  • Duodenal Neoplasms / classification
  • Duodenal Neoplasms / genetics*
  • Duodenal Neoplasms / pathology
  • Endoscopy, Gastrointestinal
  • Female
  • Gene Deletion
  • Genes, APC*
  • Humans
  • Jejunal Neoplasms / classification
  • Jejunal Neoplasms / genetics*
  • Jejunal Neoplasms / pathology
  • Male
  • Middle Aged
  • Mutation*
  • Severity of Illness Index


  • Codon