MDM4 and neoplasm: In the remaining tumours, additional genetic alterations included homozygous deletion of CDKN2A/2B in five patients (#8-12), TERT promoter (C228T) mutation in two patients (#11 and #12), PDGFRA/KIT/MDM4/AKT3 amplification in patient #10, and mutations in TP53 (p.Glu286Ala, c.857A > C; p.Glu224Asp, c.672G > T) and PTEN (p.Ile101Thr, c.302 T > C; p.Lys6fs, c.17_18delAA) as well as multiple chromosomal losses and trisomy 7 in patient #11 (Table 3 and Fig. 4).