Table 1.
Nine patients who received targeted agents with complete matching.
| Study ID | Age | Sex | Diagnosis | Genomic alteration(s) and impact | Regimen and mechanism | Line of therapy | PFS (mos) | OS (mos) | Best response |
|---|---|---|---|---|---|---|---|---|---|
| 1192 | 65 | F | Colonic gastrointestinal stromal tumor | KIT Y503_F504insAY (Activates KIT kinase) | Sunitinib (multi-kinase KIT inhibitor) | 2nd line | 2.0 | 2.0 | PD |
| 407 | 49 | M | Medullary thyroid carcinoma | RET E632_L633del (Activates RET kinase) | Cabozantinib, then Vandetanib (multi-kinase RET inhibitors) | 1st line | 3.4 | 3.4 | PD |
| 1421a | 43 | F | Ovarian undifferentiated neuroendocrine carcinoma | CDKN2A/B loss (Increases CDK4/6) | Palbociclib (CDK4/6 inhibitor) | 3rd line | 8.4 | 8.4 | PR |
| 261 | 72 | M | Papillary thyroid carcinoma | RET-CCDC6 fusion (Activates RET kinase) | Vandetanib (multi-kinase RET inhibitor) | 2nd line | 35.9 | 40.1+ | PR |
| 1876 | 14 | F | Osteosarcoma | CCND3 amplification, CDKN2A/B loss (Increases CDK4/6) | Palbociclib (CDK4/6 inhibitor) | 2nd line | 2.2 | 10.7 | PD |
| 2611 | 33 | F | Intrahepatic cholangiocarcinoma | FGFR2-BICC1 fusion (Activates FGFR2 kinase) | Infigratinib (FGFR inhibitor) | 2nd line | 21.6+ | 21.6+ | SD ≥ 6 mos |
| 3786 | 21 | F | Brain glioma | FGFR1 K656E (Activates FGFR1 kinase) | Lenvatinib (multi-kinase inhibitor including FGFR) | 2nd line | 15.1 | 25.3+ | SD ≥ 6 mos |
| 5288 | 33 | F | Ovarian serous carcinoma | BRAF V600E (Activates BRAF/MEK pathway) | Dabrafenib (BRAF inhibitor) Trametinib (MEK inhibitor) | 5th line | 10.7+ | 10.7+ | PR |
| 5467b | 41 | F | Cervical squamous cell carcinoma | Amplification of CD274 (PD-L1) (Inhibits immune response via PD-L1) | Pembrolizumab (anti-PD1 agent) | 4th line | 11.3 | 11.6+ | SD ≥ 6 mos |
F female, M male, mos months, OS overall survival, PD progressive disease, PFS progression-free survival, PR partial response, SD stable disease.
aIn addition to tissue genomic profiling, patient received cell-free DNA genomic profiling, which did not reveal additional mutations.
bPatient’s tumor also showed high PD-L1 on immunohistochemistry (tumor proportion score 8%); in addition, PDCD1LG2 (PD-L2) and JAK2 (both on the same amplicon as the PDL1 gene and both sensitizing to immunotherapy) were co-amplified.