PMS2 and Cowden syndrome 1: Furthermore, three CS cases, one with mutated and two with wildtype TP53, exhibited amplification of MYC, CCNE1, or CCND1. All CS cases were MMR-p (MSI-L and TMB-L) and showed no mutations in MMR, except for one case that exhibited a loss of MLH1 and PMS2 expression (MSI-H and TMB-H) without any mutations in MLH1 and PMS2. IHC and NGS profiles of eight SC cases, displaying mt p53 expression and MMR-p characteristics were classified as MSI-L and TMB-L.