TABLE 1.
Gene name | Types of gene alterations | Tumor type a | Mutation frequency b | Clinical significance a | Evidence level a | Agents | Reactivity |
---|---|---|---|---|---|---|---|
ERBB2 | Amplification | Biliary cancer |
GBC 9.8%‐19% ECC 11%‐17% |
Response | 2A | Trastuzumab/Pertuzumab | Sensitive |
NTRK1 | Fusion gene | Solid tumor | ICC 5.6% | Response | 2A | Pan Trk inhibitor | Sensitive |
RNF43 | Mutation (loss of function) | Solid tumor |
GBC 3.9% ICC 9.3% |
Response | 3A | LGK974 (Porcupine inhibitor) | Sensitive |
CDK6 | Amplification/Actionable mutation | Solid tumor | ICC 7% | Response | 3B | Ribociclib | Sensitive |
CDKN2B | Mutation (loss of function) | Solid tumor |
GBC 5.9%‐19% ECC 17% ICC 5.6%‐25.9% |
Response | 3B | CDK4/6 inhibitor | Sensitive |
FGFR2 | Fusion gene | Biliary cancer |
GBC 3% ICC 11%‐45% |
Response | 3B | PD173074 (FGFR inhibitor) | Sensitive |
IDH1 | Actionable mutation | Biliary cancer |
GBC 1.5% ECC 0.7%‐4% ICC 4.9%‐36% |
Response | 3B | Dasatinib | Sensitive |
IDH2 | Actionable mutation | Biliary cancer |
GBC 1.5% ECC 0.7%‐4% ICC 4.9%‐36% |
Response | 3B | Dasatinib | Sensitive |
Abbreviations: ECC, extrahepatic cholangiocarcinoma; GBC, gallbladder carcinoma; ICC, intrahepatic cholangiocarcinoma.
Tumor type, clinical significance, and evidence level of the draggable genes with therapeutic impact were cited from the clinical practice guidance for next‐generation sequencing in cancer diagnosis and treatment (Edition 1.0). 21