About PHTS and the PTEN gene

What is PHTS?

PHTS stands for PTEN hamartoma tumour syndrome. It is a rare genetic condition caused by an alteration (called a mutation) in a gene which makes a protein called PTEN. Read more about what this gene does here.

PHTS gets its name because a common characteristic of the condition is ‘lumps and bumps’ on the skin, gums and tongue as well as other parts of the body. Called hamartomas, these lumps are non-cancerous (benign), but people with PHTS are also at greater risk of getting certain types of cancer compared with other people in the general population. Some people with PHTS also develop abnormalities in their blood vessels, referred to as vascular anomalies.

Other common characteristics associated with PHTS include having a larger than average head (known as macrocephaly) and developmental delay or autism spectrum disorder. Read more about the symptoms of PHTS here.

PHTS diagnosis

A diagnosis of PHTS is made as a result of a genetic test showing an alteration in the PTEN gene. Before the widespread use of genetic testing, people were diagnosed according to their particular set of symptoms, with conditions including Cowden syndrome (CS) or Bannayan-Riley-Ruvalcaba syndrome (BRRS). Find out more about diagnosis of PHTS here.

Living with PHTS

Currently, people with PHTS are treated according to the symptoms they have.

It is also advised that people with PHTS participate in cancer screening (sometimes called cancer surveillance) programmes in which they are periodically checked so that any signs of cancer can be spotted and treated as early as possible. Find out more here.

At the moment there are no formally approved treatments for PHTS.

You can find more about what it is like to live with PHTS and connect with other families via PHTS Patient Organisations which are listed here.