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Effect of sulindac treatment for attenuated familial adenomatous polyposis with a new germline APC mutation at codon 161: report of a case.

AbstractINTRODUCTION:
Patients with familial adenomatous polyposis develop colorectal cancers if left untreated. As indicated in patients with familial adenomatous polyposis, prophylactic colectomy has been recommended even in a milder colonic phenotype referred to as attenuated familial adenomatous polyposis. However, therapeutic strategies in attenuated familial adenomatous polyposis are still controversial.
METHODS:
We report a patient with attenuated familial adenomatous polyposis who has been treated with sulindac for five years. During the period of observation, she has been carefully followed up by chromoscopic and radiographic surveillance. Immunohistochemical study for cyclooxygenase-2 and genetic analysis in the adenomatous polyposis coli gene was also performed.
RESULTS:
Continuous administration of sulindac resulted in obvious regression of both colorectal adenomatous polyps and gastric fundic gland polyps, and no cancers developed during the observation period. Immunohistochemical study showed the decrease of cyclooxygenase-2-positive epithelial cells in colorectal polyps by the treatment. The genetic analysis revealed a C to A substitution at nucleotide 481 of her germline adenomatous polyposis coli gene, which resulted in a nonsense mutation at codon 161.
CONCLUSIONS:
Our case suggests that treatment with sulindac accompanied by intensive colonoscopic surveillance may be a choice of management for attenuated familial adenomatous polyposis.
AuthorsMotohiro Esaki, Takayuki Matsumoto, Mitsuru Mizuno, Yoichiro Kobori, Ryuji Yoshimura, Takashi Yao, Mitsuo Iida
JournalDiseases of the colon and rectum (Dis Colon Rectum) Vol. 45 Issue 10 Pg. 1397-402; discussion 1402-6 (Oct 2002) ISSN: 0012-3706 [Print] United States
PMID12394442 (Publication Type: Case Reports, Journal Article)
Chemical References
  • Antineoplastic Agents
  • Codon
  • Cyclooxygenase 2 Inhibitors
  • Cyclooxygenase Inhibitors
  • Isoenzymes
  • Membrane Proteins
  • Sulindac
  • Cyclooxygenase 2
  • PTGS2 protein, human
  • Prostaglandin-Endoperoxide Synthases
Topics
  • Adenomatous Polyposis Coli (drug therapy, genetics, metabolism, pathology)
  • Antineoplastic Agents (therapeutic use)
  • Codon
  • Cyclooxygenase 2
  • Cyclooxygenase 2 Inhibitors
  • Cyclooxygenase Inhibitors (therapeutic use)
  • Female
  • Germ-Line Mutation
  • Humans
  • Immunohistochemistry
  • Isoenzymes (metabolism)
  • Membrane Proteins
  • Middle Aged
  • Prostaglandin-Endoperoxide Synthases (metabolism)
  • Sulindac (therapeutic use)

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