Figure 4. Novel oncogenic mutations identified in MEM.
(A) HRAS mutation: homozygous p.G13R mutation (left), heterozygous p.G13R mutation (middle), heterozygous p.Q61L mutation (right). (B) Distribution and frequency (%) of RAS family members mutations in MEM and RMS [RMSc, control RMS group; RMSr1, RMS meta-analysis 20,21,31 (limited to patients 5 years of age); RMSr2, RMS from same meta-analysis (> 5 years of age)]. (C) PTPRD mutations (p.V892A and p.V847L) and protein domains (IgC, immunoglobulin-like C2 type domains; FN, fibronectin type III domain; PTPc, phosphatase catalytic domain). (D) FBXW7 mutation (p.R505H) and protein domains (D, dimerization domain; Fb, F-box domain; WD, tryptophan–aspartic acid repeat domain).