PTEN Hamartoma Tumor Syndrome (PHTS) | Diagnosis and Treatment

How is PTEN hamartoma tumor syndrome diagnosed?

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.

What are the treatment options for PTEN hamartoma tumor syndrome?

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