PTEN Hamartoma Tumor Syndrome (PHTS)

What is PTEN Hamartoma Tumor Syndrome (PHTS)?

PTEN hamartoma tumor syndrome (PHTS) is an umbrella term referring to a spectrum of conditions that are all characterized by the presence of multiple hamartomas. Hamartomas are noncancerous growths made up of an abnormal mixture of cells and tissues that are normally found in the area of the body where the growth occurs. PHTS is caused by mutations in the PTEN gene. Human traits are inherited from a person’s father and mother; each one contributes a copy of a gene, which interacts with the other copy. PHTS is inherited in an autosomal dominant pattern, which means that only one copy of the mutation must be inherited for the person to have the disease.

What is the PTEN gene?

The PTEN gene is a cancer fighting gene that works to suppress tumors. When it works correctly, this tumor suppressor gene helps to control cell growth. However, when it doesn’t function properly, cells can start to grow out of control, and then turn into tumors (noncancerous or cancerous). Many people with the syndromes in the spectrum of PHTS find that their diseases are caused by mutations in the PTEN gene.

What are some types of PHTS?

There are three distinct clinical disorders associated with PHTS. All of them have been linked to the same genetic cause.

• Bannayan-Riley-Ruvalcaba syndrome
• Cowden syndrome
• Proteus-like syndrome

How is PHTS diagnosed?

PHTS is diagnosed using the molecular genetic testing that finds a PTEN mutation.

Where can I find out more about PTEN Hamartoma Tumor Syndrome?

• National Organization for Rare Disorders (NORD)
• NIH
• PTEN Foundation