Somatic polymerase epsilon mutations as another route leading to loss of DNA MMR protein expression in endometrial carcinoma —reply

We thank Westenend and Dinjens for sharing their case that illustrates how mutations in polymerase epsilon (POLE) and polymerase delta (POLD1) can be an alternative mechanism for loss of MMR protein expression and a likely explanation for a number of patients that fall into the “Lynch-like syndrome” category with negative germline testing results for MMR genes. Although the etiology of “Lynch-like syndrome” was largely uncertain in the past, recent genomic discoveries and expanded sequence panels have revealed that the vast majority of these patients have 1, 2, or more somatic mutations in MMR genes, POLE/POLD1 or, less often, germline POLE variants [1,2].

Source: Human Pathology - April 6, 2018 Category: Pathology Authors: Laura J. Tafe Tags: Correspondence Source Type: research