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 al25Rodriguez-Viciana et al14Schubbert et al15Carta et al16Rauen et al29Zenker et al21This study
CFCCFCCFCNS PTPN11CFCNS PTPN11CS HRAS-CFCCS HRASNS PTPN11CFCCS HRAS-NS PTPN11
Patients, n5623121758873213236402070
KRAS, n (%)3 (5.5)1 (8.3)5 (3)02 (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)00
Patients with a mutation, n (%)35 (62.5)21 (91.3)1 (8.3)5 (3)02 (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.