Genetics of Pten Hamartoma Tumor Syndrome (PHTS)

Abstract

PTEN hamartoma tumor syndrome (PHTS) (Marsh et al. 1999) can be defined as a syndromic condition including one or more hamartomas which has its biological basis in a germline mutation of the Phosphatase and Tensin Homolog deleted on Chromosome 10 (PTEN) gene. Following such assumption, PHTS includes patients with the previous diagnosis of Cowden syndrome (CS) (Weary et al. 1972), Bannayan-Riley-Ruvalcaba syndrome (BRRS) (Cohen 1990), Proteus syndrome (PS) (Wiedemann et al. 1983), Proteus-like syndrome (PLS) (Zhou et al. 2000) and Lhermitte-Duclos syndrome (LDS) (Dastur et al. 1975). Conversely, those conditions not including hamartomas within their phenotype but presenting with a PTEN mutation (Butler et al. 2005) cannot be considered as part of the PHTS spectrum. Currently, failure to detect a PTEN mutation doesn’t imply the ruling out of a clinical diagnosis of CS, BRRS, PS, PLS or LDS in patients who fulfill the clinical diagnostic criteria for these conditions; however, the term PHTS should be avoided in this case.