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PTEN hamartoma syndromes

Individuals with a PTEN mutation can have a wide variety of symptoms.

Sometimes these symptoms are are classified as Cowden syndrome (CS), and in some people as Bannayan-Riley-Ruvalcaba syndrome (BRRS). 90% of patients are found to have polyps on upper or lower GI endoscopy.

The polyps can be hamartomas, lipomas, fibromas, as well as the ganglioneuromas characteristic of Cowden’s Syndrome. Whether these polyps can or do lead to colorectal cancer is uncertain. 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.

What surveillance procedures are recommended for individuals with a PTEN mutation?

Various guidelines exist. Please click here for the current recommendations from the Pan Thames Cancer Genetic Group. Our current recommendation is for colonoscopy at 35y and 55y, with polyp follow up as required.

The main issues for patients with a PTEN mutation is the rare nature of the condition and the various specialists that are required, often across different hospital sites, in order to manage surveillance. It is important for those with a PTEN mutation to be managed by a genetics service with specialist knowledge who can assist in coordination of care and ensure that appropriate screening is being provided.