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

Report of a case

Motohiro Esaki, Takayuki Matsumoto, Mitsuru Mizuno, Yoichiro Kobori, Ryuji Yoshimura, Takashi Yao, Mitsuo Iida, Henry T. Lynch, Patrick M. Lynch, Motohiro Esaki, Takayuki Matsumoto, Mitsuru Mizuno, Yoichiro Kobori, Ryuji Yoshimura, Takashi Yao, Mitsuo Iida

Research output: Contribution to journalArticle

7 Citations (Scopus)

Abstract

INTRODUCTION: 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.

Original languageEnglish
Pages (from-to)1397-1406
Number of pages10
JournalDiseases of the Colon and Rectum
Volume45
Issue number10
DOIs
StatePublished - Oct 1 2002
Externally publishedYes

Fingerprint

Sulindac
Germ-Line Mutation
Codon
APC Genes
Adenomatous Polyposis Coli
Cyclooxygenase 2
Polyps
Observation
Adenomatous Polyps
Colectomy
Nonsense Codon
Therapeutics
Gastric Mucosa
Colorectal Neoplasms
Nucleotides
Epithelial Cells
Phenotype
Attenuated familial adenomatous polyposis
Neoplasms

All Science Journal Classification (ASJC) codes

  • Gastroenterology

Cite this

Effect of sulindac treatment for attenuated familial adenomatous polyposis with a new germline APC mutation at codon 161 : Report of a case. / Esaki, Motohiro; Matsumoto, Takayuki; Mizuno, Mitsuru; Kobori, Yoichiro; Yoshimura, Ryuji; Yao, Takashi; Iida, Mitsuo; Lynch, Henry T.; Lynch, Patrick M.; Esaki, Motohiro; Matsumoto, Takayuki; Mizuno, Mitsuru; Kobori, Yoichiro; Yoshimura, Ryuji; Yao, Takashi; Iida, Mitsuo.

In: Diseases of the Colon and Rectum, Vol. 45, No. 10, 01.10.2002, p. 1397-1406.

Research output: Contribution to journalArticle

Esaki, M, Matsumoto, T, Mizuno, M, Kobori, Y, Yoshimura, R, Yao, T, Iida, M, Lynch, HT, Lynch, PM, Esaki, M, Matsumoto, T, Mizuno, M, Kobori, Y, Yoshimura, R, Yao, T & Iida, M 2002, 'Effect of sulindac treatment for attenuated familial adenomatous polyposis with a new germline APC mutation at codon 161: Report of a case', Diseases of the Colon and Rectum, vol. 45, no. 10, pp. 1397-1406. https://doi.org/10.1007/s10350-004-6432-5
Esaki, Motohiro ; Matsumoto, Takayuki ; Mizuno, Mitsuru ; Kobori, Yoichiro ; Yoshimura, Ryuji ; Yao, Takashi ; Iida, Mitsuo ; Lynch, Henry T. ; Lynch, Patrick M. ; Esaki, Motohiro ; Matsumoto, Takayuki ; Mizuno, Mitsuru ; Kobori, Yoichiro ; Yoshimura, Ryuji ; Yao, Takashi ; Iida, Mitsuo. / Effect of sulindac treatment for attenuated familial adenomatous polyposis with a new germline APC mutation at codon 161 : Report of a case. In: Diseases of the Colon and Rectum. 2002 ; Vol. 45, No. 10. pp. 1397-1406.
@article{7f676b71df324629bda454a61107a29e,
title = "Effect of sulindac treatment for attenuated familial adenomatous polyposis with a new germline APC mutation at codon 161: Report of a case",
abstract = "INTRODUCTION: 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.",
author = "Motohiro Esaki and Takayuki Matsumoto and Mitsuru Mizuno and Yoichiro Kobori and Ryuji Yoshimura and Takashi Yao and Mitsuo Iida and Lynch, {Henry T.} and Lynch, {Patrick M.} and Motohiro Esaki and Takayuki Matsumoto and Mitsuru Mizuno and Yoichiro Kobori and Ryuji Yoshimura and Takashi Yao and Mitsuo Iida",
year = "2002",
month = "10",
day = "1",
doi = "10.1007/s10350-004-6432-5",
language = "English",
volume = "45",
pages = "1397--1406",
journal = "Diseases of the Colon and Rectum",
issn = "0012-3706",
publisher = "Lippincott Williams and Wilkins",
number = "10",

}

TY - JOUR

T1 - Effect of sulindac treatment for attenuated familial adenomatous polyposis with a new germline APC mutation at codon 161

T2 - Report of a case

AU - Esaki, Motohiro

AU - Matsumoto, Takayuki

AU - Mizuno, Mitsuru

AU - Kobori, Yoichiro

AU - Yoshimura, Ryuji

AU - Yao, Takashi

AU - Iida, Mitsuo

AU - Lynch, Henry T.

AU - Lynch, Patrick M.

AU - Esaki, Motohiro

AU - Matsumoto, Takayuki

AU - Mizuno, Mitsuru

AU - Kobori, Yoichiro

AU - Yoshimura, Ryuji

AU - Yao, Takashi

AU - Iida, Mitsuo

PY - 2002/10/1

Y1 - 2002/10/1

N2 - INTRODUCTION: 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.

AB - INTRODUCTION: 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.

UR - http://www.scopus.com/inward/record.url?scp=18644365579&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=18644365579&partnerID=8YFLogxK

U2 - 10.1007/s10350-004-6432-5

DO - 10.1007/s10350-004-6432-5

M3 - Article

VL - 45

SP - 1397

EP - 1406

JO - Diseases of the Colon and Rectum

JF - Diseases of the Colon and Rectum

SN - 0012-3706

IS - 10

ER -