About PHTS and the PTEN gene

What is PHTS?

PHTS stands for PTEN hamartoma tumour syndrome. Sometimes ‘PTEN syndrome’ is used to refer to the same condition. It is a rare genetic condition caused by an alteration (called a variant) 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.

Detailed PHTS and related information for families living with PHTS

The Cleveland Clinic, USA: PTEN Hamartoma Tumor Syndrome, Cowden Syndrome, and Bannayan-Riley-Ruvalcaba Syndrome

Information on genetic disorders and genetic testing

Genetic Alliance UK: What is a genetic test

MedlinePlus: Genetic testing

Clinical research information

Global clinical trials listings: Clinicaltrials.gov

Patient information about clinical research participation: The Center for Information and Study on Clinical Research Participation

PTEN Research is actively seeking to develop treatments for PHTS by funding research that will increase our understanding of the condition and assess potential medicines. Find out more about our research here.

If you want to keep up to date with our work, you can subscribe to our Newsletter here

Frequently asked questions (FAQs)

Our mission is to fund and facilitate research that will lead to new and better treatments for PHTS. We aim to develop treatments that can relieve the condition’s various symptoms and possibly even reverse or prevent them from occurring in the first place. We hope this work will also lead to improvements in the care of people living with PHTS.