Thyroid pathology in PTEN-hamartoma tumor syndrome: characteristic findings of a distinct entity

Phosphatase and tensin homolog deleted on chromosome ten (PTEN)-hamartoma tumor syndrome (PHTS) is a complex disorder caused by germline inactivating mutations of the PTEN tumor suppressor gene. PHTS includes Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), and Proteus-like syndromes. Affected individuals develop both benign and malignant tumors in a variety of tissues, including the thyroid. This study is to better characterize and describe the thyroid pathology within the different entities of this syndrome, and examine whether there is an association between specific thyroid findings and different PTEN mutations