Merve Kaya, Cathalijne C B Post, Carli M Tops, Maartje Nielsen, Emma J Crosbie, Alexandra Leary, Linda R Mileshkin, Kathy Han, Paul Bessette, Stephanie M de Boer, Ina M Jürgenliemk-Schulz, Ludy Lutgens, Jan J Jobsen, Marie A D Haverkort, Remi A Nout, Judith Kroep, Carien L Creutzberg, Vincent T H B M Smit, Nanda Horeweg, Tom van Wezel, Tjalling Bosse
Universal tumor screening in endometrial carcinoma (EC) is increasingly adopted to identify individuals at risk of Lynch syndrome (LS). These cases involve mismatch repair-deficient (MMRd) EC without MLH1 promoter hypermethylation (PHM). LS is confirmed through the identification of germline MMR pathogenic variants (PV). In cases where these are not detected, emerging evidence highlights the significance of double-somatic MMR gene alterations as a sporadic cause of MMRd, alongside POLE/POLD1 exonuclease domain (EDM) PV leading to secondary MMR PV...
January 6, 2024: Modern Pathology