Research Article

Low Prevalence of TP53 Mutations and MDM2 Amplifications in Pediatric Rhabdomyosarcoma

Table 1

Frequency of TP53 point mutations reported in rhabdomyosarcoma.

Study sizeAuthorsExons sequencedNumber of mutationsLocation of mutations
Exon 5–8Other

Stratton et al., [20]5–80/4
Felix et al., [15]4–81/6Exon 6: R213P
Toguchida et al., [23] 2–110/4
≤10Latres et al., [17] 2–90/2Exon 11: D393N
Castresana et al., [13]5–81/1Exon 6: V218Y Y220C
Würl et al., [24]4–92/6Exon 7: G245S
Kusafuka et al., [16]5–81/10Exon 8: R273H
Nawa et al., [19]5–80/2
Das et al., [14] 2–111/4

>10Mulligan et al., [18]5–82/31Exon 5: G137V
Exon 8: R282W
Taylor et al., [22]5−91/20Exon 5: del nt
1004–1017
Takahashi et al., [21]5−99/45Exon 6: E204G, R209T, P223R
Exon 7: M243T, G245C, N247D, R249G
Exon 8: C291G, P295H

Total TP53 mutations18/135 (13.3%)