Skip to main content
. 2020 Jan 24;19(3):2446–2456. doi: 10.3892/ol.2020.11347

Table II.

Gene mutations of patients with pulmonary carcinoids from our cohort.

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

a

termination codon which signals the end of translation.