Table 1 Proportion of patients with KRAS, BRAF, and MEK1/2 mutations in our study and a review of the literature.
| Niihori et al,13 Narumi et al25 | Rodriguez‐Viciana et al14 | Schubbert et al15 | Carta et al16 | Rauen et al29 | Zenker et al21 | This study | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CFC | CFC | CFC | NS PTPN11 | CFC | NS PTPN11 | CS HRAS‐ | CFC | CS HRAS | NS PTPN11 | CFC | CS HRAS‐ | NS PTPN11 | |
| Patients, n | 56 | 23 | 12 | 175 | 8 | 87 | 3 | 21 | 3 | 236 | 40 | 20 | 70 |
| KRAS, n (%) | 3 (5.5) | — | 1 (8.3) | 5 (3) | 0 | 2 (2.3) | — | 2 +1CFC/NS (14.3) | 2 (66.7) | 7 (3) | 1 (2.5) | 2 (10) | 4 (5.7) |
| BRAF, n (%) | 24 (43) | 18 (78) | — | — | — | — | 2 (66.7) | — | — | — | 14 (35) | 8 (40) | 0 |
| MEK1, n (%) | 4 (7) | 2 (9) | — | — | — | — | — | — | — | — | 4 (10) | 4 (20) | 3 (4.3) |
| MEK2, n (%) | 4 (7) | 1 (4.3) | — | — | — | — | — | — | — | — | 4 (10) | 0 | 0 |
| Patients with a mutation, n (%) | 35 (62.5) | 21 (91.3) | 1 (8.3) | 5 (3) | 0 | 2 (2.3) | 2 (66.7) | 3 (14.3) | 2 (66.7) | 7 (3) | 23 (57.5) | 14 (70) | 7 (10) |
CFC, cardio‐facio‐cutaneous syndrome; CS, Costello syndrome; NS, Noonan syndrome.