Phosphatase and tensin homolog (PTEN) is a tumor suppressor gene located at 10q23.3 and serves as a crucial negative regulator of the PI3K-AKT signaling cascade by dephosphorylating phosphatidylinositol (3,4,5)-triphosphate and inhibiting AKT activation. PTEN hamartoma tumor syndrome (PHTS) is an umbrella term employed to describe a spectrum of disorders caused by germline PTEN variants, including Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome. While distinct entitles included in PHTS have their unique diagnostic criteria, they also share common phenotypic features such as benign hamartomas of the three germ layers, macrocephaly, and an increased predisposition to malignancies in specific organs.1