PTEN Hamartoma Tumor Syndrome (PHTS)

  • AD; PTEN gene - along mTOR pathway
  • Disease spectrum; macrocephaly, autism spectrum disorder
Cowden syndrome
  • Bannayan-Riley-Ruvalcaba
    • Lipomas, penile lentigines (chidhood)
    • Intestinal polyps, lower risk visceral malignancy
    • Multiple sclerotic fibroma (storiform collagenoma)
    • NCCN cancer screening guidelines for all patients with PHTS