Table 3 Main predictive biomarkers in solid tumors currently used in clinical practice
Biomarker | Alteration (main test used) | Associated Cancer |
|---|---|---|
ALK | Rearrangements Specific mutations, rearrangements (sequencing, RT-PCR, IHC, ISH) | Lung, lymphoma, inflammatory myofibroblastic tumor (IMT) |
BRAF | Specific mutations (sequencing, RT-PCR, IHC) | Melanoma, colorectal, NSCLC, thyroid, glioma |
BRCA1/2 | Specific mutations (sequencing, RT-PCR) | Breast, prostate, ovary, pancreas |
EGFR | Specific mutations (sequencing, RT-PCR) | NSCLC |
ER and PR | Protein expression (IHC) | Breast |
FGFR2 | Specific mutation/ rearrangement (sequencing, RT-PCR) | Biliary system, bladder |
FGFR3 | Specific mutation/ rearrangement (sequencing, RT-PCR) | Urothelial |
HER2 | Protein expression, gene amplification or mutation sequencing, (IHC/SH) | Breast, lung, colorectal, stomach, uterus |
IDH1/IDH2 | Specific mutations (sequencing, RT-PCR) | Biliary system |
KIT | Specific mutations (sequencing, RT-PCR) | GIST, melanoma |
MET | Specific mutation/ amplification (sequencing, RT-PCR/ISH | NSCLC, kidney |
MSI/MMR | Multiple gene alterations/protein expression (Sequencing, RT-PCR/IHC) | Agnostic use |
NTRK | Rearrangements (sequencing, RT-PCR, IHC, ISH) | Agnostic use |
PD-1/PDL-1 | Protein expression (IHC) | Several tumors |
PDGFRA | Specific mutations (sequencing, RT-PCR) | GIST |
PIK3CA | Specific mutations within PI3 (phosphoinositide kinase 3) (sequencing, RT-PCR) | Breast |
RAS (KRAS/NRAS) | Specific mutations (sequencing, RT-PCR) | Colorectal |
RET | Rearrangement (sequencing, RT-PCR) | NSCLC, thyroid |
ROS1 | Rearrangements (sequencing, RT-PCR, IHC, ISH) | NSCLC |
TMB | Multiple gene alteration (NGS) | Agnostic use |