Brief Article
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World J Gastroenterol. Feb 21, 2014; 20(7): 1833-1838
Published online Feb 21, 2014. doi: 10.3748/wjg.v20.i7.1833
Colonic manifestations of PTEN hamartoma tumor syndrome: Case series and systematic review
Peter P Stanich, Robert Pilarski, Jonathan Rock, Wendy L Frankel, Samer El-Dika, Marty M Meyer
Peter P Stanich, Samer El-Dika, Marty M Meyer, Division of Gastroenterology, Hepatology and Nutrition, the Ohio State University Wexner Medical Center, Columbus, OH 43210, United States
Robert Pilarski, Division of Human Genetics, the Ohio State University Wexner Medical Center, Columbus, OH 43210, United States
Jonathan Rock, Wendy L Frankel, Department of Pathology, the Ohio State University Wexner Medical Center, Columbus, OH 43210, United States
Author contributions: Stanich PP, Pilarski R and Meyer MM were involved in study creation, data collection, data interpretation and manuscript preparation and revision; Rock J, Frankel WL and El-Dika S were involved with data interpretation and critical manuscript revision.
Correspondence to: Marty M Meyer, MD, Division of Gastroenterology, Hepatology and Nutrition, the Ohio State University Wexner Medical Center, 395 West 12th Avenue, Suite 200, Columbus, OH 43210, United States. marty.meyer@osumc.edu
Telephone: + 1-614-2934191 Fax: +1-614-2938518
Received: July 28, 2013
Revised: September 12, 2013
Accepted: September 29, 2013
Published online: February 21, 2014
Processing time: 226 Days and 13.1 Hours
Abstract

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 same.

METHODS: 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 center. These patient’s records were retrospectively reviewed for clinical characteristics (including family history and genetic testing), endoscopy results and pathology findings. We 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 1996. These results were compiled and reported.

RESULTS: Eight patients from our institution met initial inclusion criteria. Of these, 5 patients underwent 4.2 colonoscopies at mean age 45.8 ± 10.8 years. All were found to have colon polyps during their clinical course and polyp histology included adenoma, hyperplastic, ganglioneuroma and juvenile. No malignant lesions were identified. Two had multiple histologic types. One patient underwent colectomy due to innumerable polyps and concern for future malignant potential. Systematic literature review of PHTS patients undergoing endoscopy revealed 107 patients receiving colonoscopy at mean age 37.4 years. Colon polyps were noted in 92.5% 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%) polyps. Twelve (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 reported.

CONCLUSION: PHTS has a high prevalence of colon polyposis with multiple histologic types. It should be considered a mixed polyposis syndrome. Systematic review found an increased prevalence of colorectal cancer and we recommend initiating colonoscopy for colorectal cancer surveillance at age 35 years.

Keywords: Adenoma; Bannayan-Riley-Ruvalcaba syndrome; Colon polyps; Colorectal cancer; Cowden syndrome; Endoscopy; Ganglioneuroma; Hamartoma; Hyperplastic; Phosphatase and tensin homolog on chromosome ten

Core tip: Phosphatase and tensin homolog on chromosome ten (PTEN) hamartoma tumor syndrome has a high rate of colonic polyposis. In contrast with prior dogma, the majority of patients will have mixed polyp histologies including adenoma, hamartoma and hyperplastic. Thus, multiple polyp types should spur investigation for this syndrome with a thorough clinical exam and possibly genetic testing. There is likely an increased risk of colorectal cancer at a young age and surveillance colonoscopy is recommended. We recommend starting at age 35 years.