What is the definition of PTEN Hamartoma Tumor Syndrome?

PTEN hamartoma tumor syndrome refers to a spectrum of conditions that are characterized by multiple hamartomas. These conditions include:
  • Cowden syndrome - associated with a high risk for benign and malignant (cancerous) tumors of the thyroid, breast, and uterus. Affected people may also have macrocephaly and characteristic skin abnormalities.
  • Bannayan-Riley-Ruvalcaba syndrome - characterized by macrocephaly (large head size), hamartomas of the intestines (called hamartomatous intestinal polyps), and dark freckles on the penis.
  • Proteus syndrome - characterized by overgrowth of the bones, skin, and other tissues.
  • Proteus-like syndrome - people with many of the signs and symptoms associated with Proteus syndrome, but who do not meet the diagnostic criteria.

PTEN hamartoma tumor syndrome is caused by changes (mutations) in the PTEN gene and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person.

What are the alternative names for PTEN Hamartoma Tumor Syndrome?

  • PHTS
  • Condition: Lhermitte-Duclos Disease (LDD)
  • Journal: Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences
  • Treatment Used: Partial Resection
  • Number of Patients: 1
  • Published —
This case report describes a patient diagnosed with Lhermitte-Duclos disease (LDD), a rare brain tumor in the posterior fossa, treated with partial resection.
  • Condition: Cowden Syndrome
  • Journal: The oncologist
  • Treatment Used: Sirolimus
  • Number of Patients: 18
  • Published —
This study tested the safety and efficacy of using sirolimus to treat patients with Cowden syndrome.
Clinical Trial
  • Status: Recruiting
  • Phase: Phase 2
  • Intervention Type: Drug
  • Participants: 10
  • Start Date: September 16, 2019
Sirolimus for Cowden Syndrome With Colon Polyposis
Clinical Trial
  • Status: Recruiting
  • Participants: 2500
  • Start Date: August 3, 2017
Liquid Biopsy Evaluation and Repository Development at Princess Margaret