PTEN-hamartomatous tumour syndromes

In addition to a wide variety of symptoms and signs, which can be manifest as Cowden (CS) and Bannayan-Riley-Ruvalcaba syndromes (BRRS), individuals with a PTEN mutation are commonly (90%) found to have polyps on upper or lower GI endoscopy.

These include adenomas, various hamartomas and other lesions, including lipomas, fibromas, as well as the ganglioneuromas characteristic of Cowden Syndrome. Whether these polyps can or do lead to colorectal cancer is uncertain.


A number of variant databases are available, including Zhejiang University Center for Genetic and Genomic Medicine.


While a modest rise in risk for colorectal cancer has been estimated at 9% (with age of onset beginning in the late 30s), the major cancer risks for those with a PTEN mutation are breast, thyroid and endometrial.


Ascertainment colonoscopy at 35y and 55y, with polyp follow up as required has been suggested in a recently updated review with guidelines.

Dutch guidelines (2015) on PHTS recommend colonoscopy every 5 years starting at age 40 years.


Content updated 16 July 2019