Mutations defining CS-AML (hereafter referred to as CS-mutations) consist of RUNX1, ASXL1, BCOR, STAG2, EZH2, SRSF2, SF3B1, U2AF1, ZRSR2, and partial tandem duplication (PTD) of KMT2A (MLL) gene (MLL-PTD) [6]. Here, KMT2A is linked to Cowden syndrome 1.