Table II.
Case | Histology | Gene | AA change | Mutation type | Frequency (%) |
---|---|---|---|---|---|
1 | TC | JAK2 | K1030R | Missense variant | 50.60 |
KIT | A755T | Missense variant | 50.40 | ||
RB1 | F198L | Missense variant | 9.23 | ||
NF1 | S1100T | Missense variant | 2.24 | ||
2 | TC | TSC2 | R57H | Missense variant | 4.33 |
TSC1 | S1038R | Missense variant | 3.12 | ||
TSC1 | S1039G | Missense variant | 3.08 | ||
ERBB4 | R1155a | Nonsense variant | 2.51 | ||
NOTCH1 | E242K | Missense variant | 2.26 | ||
KIT | P37S? | Frameshift variant | 2.09 | ||
3 | TC | ERBB4 | I944V | Missense variant | 35.80 |
MAP2K1 | D67N | Missense variant | 2.89 | ||
PDGFRA | R293H | Missense variant | 2.56 | ||
ERBB2 | R47H | Missense variant | 2.29 | ||
MET | R988C | Missense variant | 1.68 | ||
EGFR | NA | Splice donor variant | 1.15 | ||
4 | TC | PTCH1 | K251T | Missense variant | 49.00 |
IGF1R | G8R | Missense variant | 2.65 | ||
5 | TC | MET | V1088M | Missense variant | 41.30 |
KDR | A532V | Missense variant | 2.35 | ||
6 | AC | SMO | P743T | Missense variant | 47.50 |
CDK6 | I159K | Missense variant | 7.72 | ||
IGF1R | P1290L | Missense variant | 4.38 | ||
FGFR1 | DDDD163D | Deletion variant | 4.15 | ||
FGFR2 | L192 | Deletion variant | 3.56 | ||
IGF1R | S1180F | Missense variant | 2.63 | ||
CDK4 | V281E | Missense variant | 2.06 |
TC, typical carcinoid; AC, atypical carcinoid; AA, amino acid
termination codon which signals the end of translation.