PTEN Hamartoma Tumor Syndrome (PHTS) | Symptoms and Causes

LIke ThisLIke ThisLIke ThisLIke ThisLIke This

Contact the Neurogenetics Department

  • 1-617-355-6388
  • International: +1-617-355-5209

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:

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:

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.

Boston Children’s is so much more than a hospital—it’s a community of researchers, clinicians, administrators, support staff, innovators, teachers, patients and families, all working together to make the impossible possible. ”
- Sandra L. Fenwick, President and CEO

Boston Children's Hospital
300 Longwood Avenue, Boston, MA 02115
For Patients: 617-355-6000
For Referring Providers: 844-BCH-PEDS | 844-224-7337