Table 3.
Validation of the OFA Results by Orthogonal Testing (Cohort I)
| Patient | Diagnosis | OFA Result | Validation Method |
|---|---|---|---|
| 1 | NSCLC (squamous) | BRAF p. G469V FGFR1 amplification |
Pyrosequencing, CLPv2 – |
| 2 | NSCLC (adeno) | KRAS p. G12C KRAS p. A59G |
CLPv2⁎ |
| 3 | CRC | KRAS p. G13C PIK3CA p. H1047R |
CLPv2⁎ |
| 4 | Melanoma | NRAS p. A146T | Pyrosequencing |
| 5 | NSCLC (pleo) | KRAS p. G12A | CLPv2 |
| 8 | NSCLC (adeno), primary NSCLC (sarcoma), primary NSCLC (sarcoma), metastasis SCLC, primary |
EGFR p. L858R EGFR p. L858R FGFR1 amplification MYC amplification EGFR p. L858R, FGFR1 amplification, MYC amplification – |
Pyrosequencing Pyrosequencing – – Pyrosequencing – – Pyrosequencing |
| 10 | NSCLC (adeno) | – | Pyrosequencing† |
| 11 | Breast cancer | PIK3CA p. N345K | HER2 IHC, HER2 SISH |
| 13 | Breast cancer | PIK3CA p. E545K | HER2 IHC, HER2 SISH |
| 17 | NSCLC (adeno) | BRAF p. V600E | Pyrosequencing |
| 19 | NSCLC (adeno) | KRAS p. G12D EGFR amplification EGFRvIII MET exon 14 mutation |
– – – MET IHC |
| 23 | CRC | KRAS p. Q61K CCND1 amplification MYC amplification |
– CCND1 IHC MYC IHC |
| 25 | NSCLC (adeno) 1 NSCLC (adeno) 2 |
CD74 – ROS1 fusion CD74 – ROS1 fusion |
ROS1 IHC ROS1 IHC |
| 27 | CRC | BRAF p. V600E MYC amplification |
– MYC IHC |
| 29 | CRC | PIK3CA p. R93Q MAP2K1 (MEK) p. K57T MET exon 14 mutation |
– – MET IHC |
| 30 | Pancreatic cancer | KRAS p. G12D MET exon 14 mutation |
– MET IHC |
| 32 | NSCLC (adeno) | EML4 – ALK fusion | ALK IHC |
| 35 | CRC | KRAS p. A146T | Pyrosequencing |
| 39 | Melanoma | BRAF amplification CDK4 amplification |
– CDK4 IHC |
| 40 | NSCLC (adeno) | CD74 – ROS1 fusion | ROS1 IHC |
| 43 | Thyroid carcinoma (anaplastic) | NRAS p. Q61K MET exon 14 mutation |
– MET IHC |
| 44 | Thyroid carcinoma (papillary), primary Thyroid carcinoma (papillary), metastasis |
BRAF p. V600E BRAF p. V600E |
Pyrosequencing Pyrosequencing |
| 45 | NSCLC (adeno) | EGFR amplification MET amplification |
– MET IHC |
| 48 | CRC | KRAS p. G12V | Pyrosequencing |
| 50 | NSCLC (NOS) | MET amplification | MET IHC |
| 51 | Erdheim Chester disease 1 Erdheim Chester disease 2 |
BRAF p. V600E BRAF p. V600E |
Pyrosequencing Pyrosequencing |
Abbreviations: NSCLC, non–small cell lung cancer; NSCLC (adeno), non–small cell lung cancer, adenocarcinoma; NSCLC (squamous), non–small cell lung cancer, squamous cell carcinoma; NSCLC (pleo), non–small cell lung cancer, pleomorphic carcinoma; NSCLC (NOS), non–small cell lung cancer, not otherwise specified.
⁎
CLPv2 detected an additional TP53 mutation.
†
No EGFR or KRAS mutation detected by pyrosequencing.