Professionals

PTENhamartoma tumour syndrome (PHTS) is an autosomal dominant disorder caused by pathogenic constitutional variants in PTEN, a tumor suppressor gene encoding a lipid phosphatase that negatively regulates the PI3K/AKT/mTOR signaling pathway. The clinical spectrum includes Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, and other PTEN-related phenotypes. The disorder is highly variable in expression and penetrance, and de novovariants are frequent. The prevalence is considered low but likely underestimated because of variable presentation and incomplete recognition.