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Studies on gene mutation and long-term clinical course in familial adenomatous polyposis

Research Project

Project/Area Number 10670520
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Gastroenterology
Research InstitutionKAWASAKI MEDICAL SCHOOL

Principal Investigator

IIDA Mitsuo  FACULTY OF MEDICINE, KAWASAKI MEDICAL SCHOOL, PROFESSOR, 医学部, 教授 (00127961)

Co-Investigator(Kenkyū-buntansha) 松本 主之  九州大学, 医学部, 助手 (10278955)
MIZUNO Mitsuru  FACULTY OF MEDICINE, KAWASAKI MEDICAL SCHOOL, ASSISTANT PROFESSOR, 医学部, 講師 (90239252)
KUROKI Fumitoshi  FACULTY OF MEDICINE, KAWASAKI MEDICAL SCHOOL, ASSISTANT PROFESSOR, 医学部, 講師 (20278956)
末兼 浩史  川崎医科大学, 医学部, 講師 (70299189)
Project Period (FY) 1998 – 1999
Project Status Completed (Fiscal Year 1999)
Budget Amount *help
¥2,900,000 (Direct Cost: ¥2,900,000)
Fiscal Year 1999: ¥1,100,000 (Direct Cost: ¥1,100,000)
Fiscal Year 1998: ¥1,800,000 (Direct Cost: ¥1,800,000)
Keywordsfamilial adenomatous polyposis / Hereditary colorectal cancer / Apc gene mutation / duodenal adenoma / ileal adenoma / depressed adenoma of the duodenum / attenuated familial adenomatous polyposis / surveillance / 十二指腸乳頭部腺腫 / PCR-SSCP法 / APC遺伝子変異 / Apc遺伝子 / 異型家族大腸腺腫症 / 小腸腺腫 / 拡大内視鏡検査 / Mutaion cluster region / PCR法
Research Abstract

In order to establish the guideline for surveillance after colectomy in patients with familial adenomatous polyposis (FAP), we investigated clinicopathologic features in duodenal and small intestinal lesions and germline mutations in adenornatous polyposis coli (Apc) gene in patients with the disease. Among our 25 FAP patients, 10 patients had depressed adenomas in the duodenum. The depressed adenomas had higher grade of dysplasia and higher proliferative activity than the protruding adenomas. In 18 patients whose duodenal ampulla were surveyed for more than 10 years, the grade of dysplasia progressed in 5 patients. The proliferative activity was not different at the initial and the final surveillance. We then observed the ileal mucosa of 19 FAP patients by magnifying colonoscopy. In five patients, distinctive areas of microadenomas. Could be observed. Three of the five patients had prior history of cancer in the rectal remnant while 14 patients with negative ileal microadenoma did not have such history. These findings suggest that in FAP patients the duodenum should be surveyed carefully with regards to the depressed lesions, and that ileal adenoma may be predictive of rectal cancer during surveillance. Using PCR-SSCP, Apc mutation of genomic DNA could be identified in 15 of our 37 FAP patients. Patients with a mutation at exon 15 of Apc had profuse colorectal polyposis and severe extracolonic manifestations. Four patients with mutations at exon 4, 5 or 9 had less extra colonic manifestations, fewer colorectal adenomas and over 40 years of age at the initial diagnosis. The clinical features of the latter patients conformed to those recently described as attenuated FAP. Our observations suggest that the analysis of Apc seems to provide a clue for surveillance program in FAP.

Report

(3 results)
  • 1999 Annual Research Report   Final Research Report Summary
  • 1998 Annual Research Report
  • Research Products

    (10 results)

All Other

All Publications (10 results)

  • [Publications] 飯田三雄: "家族性大腸腺腫症の病態と臨床像"臨床と研究. 75. 1741-1746 (1998)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Matsumoto T, et al.: "In vivo observation of the ileal microadenoma in familial adenomatous polyposis"Am J Gastroenterol. 94. 3354-3358 (1999)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Matsumoto T, et al.: "Depressed adenoma of the duodenum in patients with familial adenomatous polyposis : endoscopic and immunohistochemical features"Camcer. 86. 1414-1420 (1999)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Iida M, et al.: "Clinicopathological features in familial adenomatous polyposis"Jpn J Clin Exp Med. 75. 1741-1746 (1998)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Matsumoto T, et al.: "In viva observation of the ileal microadenoma in familial adenomatous polyposis"Am J Gastroenterol. 94. 3354-3358 (1999)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Matsumoto T, et al.: "Depressed adenoma of the duodenum in patients with familial adenomatous polyposis : endoscopic and immunohistochemical features"Cancer. 86. 1414-1420 (1999)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Matsumoto T,et al.: "In vivo observation of the ileal microadenoma in familial adenomatous polyposis"Am J Gastroenterol. 94. 3354-3358 (1999)

    • Related Report
      1999 Annual Research Report
  • [Publications] Matsumoto T,et al.: "Depressed adenoma of the duodenum in patients with familial adenomatous polyposis : endoscopic and immunohistochemical features"Cancer. 86. 1414-1420 (1999)

    • Related Report
      1999 Annual Research Report
  • [Publications] Matsumoto T,et al.: "In vivo observation of the ileal microadenoma in familial adenomatous polyposis." Am J Gastroenterol. (accepted).

    • Related Report
      1998 Annual Research Report
  • [Publications] 飯田三雄,他: "家族性大腸腺腫症の病態と臨床像" 臨床と研究. 75. 1741-1746 (1998)

    • Related Report
      1998 Annual Research Report

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Published: 1998-04-01   Modified: 2016-04-21  

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