POLD1 and neoplasm: Originally, this syndrome was described as “polymerase proofreading-associated polyposis” [11], however, the term “POLE/POLD1-associated tumor syndrome” was recently proposed instead [12], as among some patients with a germline mutation in DNA polymerase subunits POLE and/or POLD1, expanded extracolonic tumor spectrum and absence of colonic polyposis have been noted.