PTEN Hamartoma Tumor Syndrome (PHTS) | Symptoms and Causes

What are the symptoms of PTEN hamartoma tumor syndrome?

Symptoms of PTEN hamartoma tumor syndrome (PHTS) can vary from person to person. Common symptoms may include:

An increased risk for certain cancers, including cancer of the:

• breast
• thyroid
• renal cells
• endometrium (lining of the uterus)
• colon or rectum
• skin (melanoma)

Benign (non-cancerous) tumors on the:

• breast
• thyroid
• uterus
• gastrointestinal tract

Vascular abnormalities including:

• arteriovenous malformations
• hemangiomas

Growths on the skin including:

• lipomas (fatty lesions)
• acral keratoses (raised lesions on the hands and feet)
• papillomas (smooth raised lesions)
• trichilemmomas (hair follicle lesions)
• fibromas (overgrowths affecting skin and connective tissue)
• penile freckling

Neurological and neurodevelopmental problems, including:

• macrocephaly (enlarged head size)
• autism spectrum disorder
• intellectual disability
• developmental delays

What are the causes of PTEN hamartoma tumor syndrome?

PHTS results from a change in the PTEN gene. The PTEN gene is a tumor suppressor that helps keep cell growth in check. When there is a defect in the PTEN gene, cell growth can go unchecked, causing tumors and an increased cancer risk.