Research Article
Low Prevalence of TP53 Mutations and MDM2 Amplifications in Pediatric Rhabdomyosarcoma
Table 1
Frequency of TP53 point mutations reported in rhabdomyosarcoma.
| Study size | Authors | Exons sequenced | Number of mutations | Location of mutations | Exon 5–8 | Other |
| | Stratton et al., [20] | 5–8 | 0/4 | — | | | Felix et al., [15] | 4–8 | 1/6 | Exon 6: R213P | | | Toguchida et al., [23] | 2–11 | 0/4 | — | | ≤10 | Latres et al., [17] | 2–9 | 0/2 | | Exon 11: D393N | Castresana et al., [13] | 5–8 | 1/1 | Exon 6: V218Y Y220C | Würl et al., [24] | 4–9 | 2/6 | Exon 7: G245S | | Kusafuka et al., [16] | 5–8 | 1/10 | Exon 8: R273H | | | Nawa et al., [19] | 5–8 | 0/2 | — | | | Das et al., [14] | 2–11 | 1/4 | | |
| >10 | Mulligan et al., [18] | 5–8 | 2/31 | Exon 5: G137V Exon 8: R282W | | Taylor et al., [22] | 5−9 | 1/20 | Exon 5: del nt 1004–1017 | | Takahashi et al., [21] | 5−9 | 9/45 | Exon 6: E204G, R209T, P223R Exon 7: M243T, G245C, N247D, R249G Exon 8: C291G, P295H | |
| Total TP53 mutations | 18/135 (13.3%) | | | |
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