Colonic manifestations ofPTENhamartoma tumor syndrome: Case series and systematic review

Abstract

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.

PTEN Hamartoma Tumour Syndrome:Gastrointestinal Manifestations ofTwo Cases Diagnosed in Singapore

“…There are varied gastrointestinal manifestations of PHTS as detailed in Table 1 [3][4][5][6][7][8][9][10][11][12][13][14][15][16][17], of which upper and lower gastrointestinal tract (GIT) polyposis is most common. PHTS patients are reported to have a wide spectrum of polyp histologies throughout their upper and lower GIT [3,4], with many having more than a single histology [5].…”

“…PHTS patients are reported to have a wide spectrum of polyp histologies throughout their upper and lower GIT [3,4], with many having more than a single histology [5]. In particular, a mixture of polyp histologies such as hyperplastic (43.6%), adenomatous (40.4%), and hamartomatous (38.3%) polyps etc.…”

“…In particular, a mixture of polyp histologies such as hyperplastic (43.6%), adenomatous (40.4%), and hamartomatous (38.3%) polyps etc. [5] are more commonly found in patients with PTEN mutations. Both patients demonstrated mixed polyp histologies, in keeping with current literature.…”

“…Gastrointestinal polyposis [2][3][4][5][6][7][8][9][10][11][12] Glycogenic acanthosis [2,8,11,13] Intestinal hyperplasia 14…”

Thyroid Pathology Findings in Cowden Syndrome

“…6,13,18 Patients with CS and PTEN mutation have a higher frequency of upper gastrointestinal polyps than previously believed, 23 and they are also prone to developing upper and lower polyps and cancer. [23][24][25][26] As this case exemplified, patients with PHTS have a high prevalence of colon polyposis with multiple histologic types of polyps such as hyperplastic, adenomatous, hamartomatous, lipomatous, ganglioneuromatous, and inflammatory. 24,26 To our knowledge, there are no studies concerning the immunohistochemical expression of PTEN protein in extrathyroidal lesions of patients with PHTS, and we believe the potential diagnostic usefulness of the loss of PTEN expression in the storiform collagenoma and tubulovillous adenoma in the present case deserves consideration.…”