Diseases of the colon and rectum · 2000
Rectosigmoidal adenomatous polyposis: a novel entity of polyposis? Report of a case.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Umetani N, Watanabe T, Sasaki S, Nagawa H
Аннотация
PURPOSE: We report a patient with rectosigmoidal adenomatous polyposis.
METHODS: A 57-year-old male presented with a submucosally invasive well-differentiated adenocarcinoma in the rectum and approximately 100 adenomatous polyps with an extremely unusual distribution limited exclusively to the rectum and sigmoid colon.
RESULTS: There was no family history of colorectal disease or any related disorders. No extracolonic manifestations were found. Because this case was considered to be a discriminative phenotype of familial adenomatous polyposis, DNA from a peripheral sample of whole blood was screened for APC germline mutation by a combination of protein truncation test and single stranded conformation polymorphism, but no mutation was found.
CONCLUSION: This patient may have a novel entity of adenomatous polyposis with a peculiar distribution. It may be caused by some genetic alteration other than APC mutation.
METHODS: A 57-year-old male presented with a submucosally invasive well-differentiated adenocarcinoma in the rectum and approximately 100 adenomatous polyps with an extremely unusual distribution limited exclusively to the rectum and sigmoid colon.
RESULTS: There was no family history of colorectal disease or any related disorders. No extracolonic manifestations were found. Because this case was considered to be a discriminative phenotype of familial adenomatous polyposis, DNA from a peripheral sample of whole blood was screened for APC germline mutation by a combination of protein truncation test and single stranded conformation polymorphism, but no mutation was found.
CONCLUSION: This patient may have a novel entity of adenomatous polyposis with a peculiar distribution. It may be caused by some genetic alteration other than APC mutation.