Table 2. Mutational status of 153 biliary tract carcinomas.
| Gene | Total | Type of mutation | ICC (n= 70) | ECC (n= 57) | GBC (n= 26) | P-value* | ||||
|---|---|---|---|---|---|---|---|---|---|---|
| M | N | Fs | D | S | ||||||
| AKT1 | 2 | 2 | 2 | - | ||||||
| ALK | 1(0.7%) | 1 | 1(1.7%) | - | ||||||
| APC | 3(2.0%) | 2 | 1 | 1(1.4%) | 2(7.7%) | - | ||||
| ARID1A | 18(11.8%) | 10 | 5 | 1 | 1 | 1 | 8(11.4%) | 7(12.3%) | 3(11.5%) | 0.999 |
| BAP1 | 11(7.2%) | 7 | 1 | 3 | 10(14.3%) | 1(3.8%) | 0.0097 | |||
| BRAF | 3(1.9%) | 3 | 3(4.3%) | - | ||||||
| CDKN2A | 2(1.3%) | 1 | 1 | 1(1.4%) | 1(3.8%) | - | ||||
| CTNNB1 | 2(1.3%) | 1 | 1 | 2(3.5%) | - | |||||
| EGFR | 2(1.3%) | 2 | 1(1.7%) | 1(3.8%) | - | |||||
| ERBB2 | 1(0.7%) | 1 | 1(3.8%) | - | ||||||
| ERBB4 | 1(0.7%) | 1 | 1(1.4%) | - | ||||||
| FBXW7 | 3(2.0%) | 3 | 1(1.4%) | 2(3.5%) | - | |||||
| FGFR3 | 2(1.3%) | 1 | 1 | 2(2.8%) | - | |||||
| GNAS | 1(0.7%) | 1 | 1(1.7%) | - | ||||||
| IDH1 | 11(7.2%) | 11 | 11(15.7%) | 0.0021 | ||||||
| IDH2 | 3(2.0%) | 3 | 3(4.3%) | - | ||||||
| JAK3 | 1(0.7%) | 1 | 1(1.7%) | - | ||||||
| KDR | 5(3.3%) | 3 | 2 | 1(1.4%) | 2(3.5%) | 2(7.7%) | - | |||
| KIT | 2(1.3%) | 2 | 1(3.5%) | 1(3.8%) | - | |||||
| KRAS | 43(28.1%) | 43 | 11(15.7%) | 7(47.4%) | 5(19.2%) | 0.0019 | ||||
| MET | 1(0.7%) | 1 | 1(3.8%) | - | ||||||
| MLH1 | 1(0.7%) | 1 | 1(1.7%) | - | ||||||
| NRAS | 6(3.9%) | 6 | 5(9.3%) | 1(1.7%) | 0.421 | |||||
| PBRM1 | 14(9.2%) | 8 | 5 | 1 | 10(14.3%) | 2(3.5%) | 2(7.7%) | 0.182 | ||
| PIK3CA | 11(7.2%) | 11 | 4(5.7%) | 5(8.7%) | 2(7.7%) | 0.914 | ||||
| PIK3C2A | 9(5.9%) | 9 | 5(7.1%) | 4(7.0%) | 0.620 | |||||
| PIK3C2G | 8(5.2%) | 7 | 1 | 3(4.3%) | 5(8.7%) | 0.498 | ||||
| PTEN | 4(2.6%) | 4 | 1(1.4%) | 2(3.5%) | 1(3.8%) | - | ||||
| PTPN11 | 1(0.7%) | 1 | 1(1.7%) | 0(0.0%) | - | |||||
| RB1 | 1(0.7%) | 1 | 1(3.8%) | - | ||||||
| RET | 10.7%) | 1 | 1(1.7%) | - | ||||||
| SMAD4 | 9(5.9%) | 7 | 2 | 1(1.4%) | 6(10.5%) | 2(7.7%) | 0.179 | |||
| SMARCB1 | 2(1.3%) | 2 | 0(0.0%) | 2(7.7%) | - | |||||
| STK11 | 3(2.0%) | 2 | 1 | 1(1.4%) | 1(2.2%) | 1(3.8%) | - | |||
| TGFBR2 | 7(4.6%) | 6 | 1 | 3(4.3%) | 3(5.3%) | 1(3.8%) | 0.999 | |||
| TP53 | 28(18.3%) | 24 | 4 | 6(8.6%) | 10(17.5%) | 12(46.2%) | 0.0019 | |||
Note: ICC, intrahepatic cholangiocarcinoma; ECC, extrahepatic cholangiocarcinoma; GBC, gallbladder carcinoma; M, missense mutation; N, nonsense mutation; F, frameshift mutation; D, deletion; S, splice site alteration.
*
Fisher's exact test corrected for multiple comparisons was calculated If ≥ 6 mutated cases were observed.