PTEN Hamartoma Tumor Syndrome (PHTS)

PTEN hamartoma tumor syndrome (PHTS) is a genetic disorder caused by a defect in a gene called PTEN. It is an umbrella term for a number of related syndromes, including Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome (BRRS), PTEN-related Proteus syndrome, and Proteus-like syndrome.

Children with PHTS can have a wide range of problems, including benign tumor-like growths (hamartomas), increased cancer risk, and neurodevelopmental disorders.

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

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.

Your child may have many tests before receiving a diagnosis of PTEN hamartoma tumor syndrome (PHTS). The starting point is a careful history and physical examination. Additional studies may include a brain magnetic resonance imaging (MRI).

Genetic testing is an important part of the evaluation. You child may need a blood test to see if he or she has a change in the PTEN gene.

Children who have any symptoms associated with PHTS should consider further clinical evaluation and genetic testing.

Treatment for PHTS is centered on treating the symptoms and careful screening for cancer. Children with PTEN mutations should have cancer screenings at the time of diagnosis. This will help healthcare providers detect any tumors at the earliest, most treatable stages.

Suggested screenings for children under age 18 include:

• Yearly thyroid ultrasound starting at the time of first diagnosis
• Yearly skin check with physical examination
• Neurodevelopmental evaluation as needed

The Boston Children’s Hospital Neurogenetics and Neurodevelopment Program provides diagnosis and treatment for children with all forms of PHTS.

Our team of specialists has a deep knowledge of PHTS and can provide specialty care for the many conditions related to the condition, including autism, developmental delay, gastrointestinal issues, skin conditions, and cancer.

In addition, the Rosamund Stone Zander Translational Neuroscience Center (RSZ TNC) at Boston Children’s is at the forefront of research in rare neurological and genetic conditions, including PTEN hamartoma tumor syndrome.