Table 1.
Selections of currently available molecular diagnostic platforms are shown in relation to the genomic alterations these tests are poised to target
Selected therapeutically relevant genomic alterations in NSCLC | Sanger sequencing | Immunohistochemistry | Fluorescence in situ hybridization | Multiplex hotspot mutation testing | Multiplex sizing assays | Anchored multiplex PCR RNA sequencing | Next-generation DNA sequencing |
---|---|---|---|---|---|---|---|
Point mutations | |||||||
EGFR | ✓ | ✓ | ✓ | ✓ | ✓ | ||
KRAS | (EGFR L858R) | ||||||
ERBB2 (HER2) | |||||||
MAP2K1 (MEK) | |||||||
BRAF | |||||||
PIK3CA | |||||||
AKT | |||||||
Insertions or deletions | |||||||
EGFR | ✓ | ✓ | ✓ | ✓ | ✓ | ||
ERBB2 (HER2) | (EGFR exon 19 deletion) | ||||||
Rearrangements | |||||||
ALK | ✓ | ✓ | ✓ | ✓ | |||
ROS1 | (ALK and ROS1 require FISFI confirmation) | (Novel fusion detection) | |||||
RET | |||||||
NTRK | |||||||
Amplification/loss | |||||||
MET | ✓ | ✓ | ✓ | ✓ | |||
PTEN | (MET amplification requires FISFI confirmation) | ||||||
Non-recurrent genomic alterations | |||||||
Other potentially relevant oncogenes and tumor suppressor genes | ✓ |
For multiplex platforms and next-generation sequencing, the genomic alterations that are interrogated by these assays often can be customized based on histology and clinical need