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Colonic manifestations of PTEN hamartoma tumor syndrome: Case series and systematic review

World Journal of Gastroenterology 2014年第7期20卷 1833-1838页

作者： Peter P Stanich Robert Pilarski Jonathan Rock Wendy L Frankel Samer El-Dika Marty M Meyer Division of Gastroenterology Hepatology and Nutritionthe Ohio State University Wexner Medical CenterColumbusOH 43210United States Division of Human Genetics the Ohio State University Wexner Medical CenterColumbusOH 43210United States Department of Pathology the Ohio State University Wexner Medical CenterColumbusOH 43210United States

AIM:To investigate our clinical experience with the colonic manifestations of phosphatase and tensin homolog on chromosome ten(PTEN)hamartoma tumor syndrome(PHTS)and to perform a systematic literature review regarding the ***:This study was approved by the appropriate institutional review board prior to initiation.A clinical genetics database was searched for patients with PHTS or a component syndrome that received gastrointestinal endoscopy or pathology interpretation at our *** patient’s records were retrospectively reviewed for clinical characteristics(including family history and genetic testing),endoscopy results and pathology *** also performed a systematic review of the literature for case series of PHTS or component syndromes that reported gastrointestinal manifestations and investigations published after consensus diagnostic criteria were established in *** results were compiled and ***:Eight patients from our institution met initial inclusion *** these,5 patients underwent4.2 colonoscopies at mean age 45.8±10.8 *** were found to have colon polyps during their clinical course and polyp histology included adenoma,hyperplastic,ganglioneuroma and *** malignant lesions were *** had multiple histologic *** patient underwent colectomy due to innumerable polyps and concern for future malignant *** literature review of PHTS patients undergoing endoscopy revealed 107 patients receiving colonoscopy at mean age 37.4 *** polyps were noted in92.5%and multiple colon polyp histologies were reported in 53.6%.Common polyp histologies included hyperplastic(43.6%),adenoma(40.4%),hamartoma(38.3%),ganglioneuroma(33%)and inflammatory(24.5%)***(11.2%)patients had colorectal cancer at mean age 46.7 years(range 35-62).Clinical outcomes secondary to colon polyposis and malignancy were not commonly ***:PHTS has a high prevalence of colon polyposis wi

关键词： Adenoma bannayan-riley-ruvalcaba syndrome Colon po

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