Table 2.
Summary of identified targets, treatments and responses.
| Patient | Tumor type | Actionable targets | Drug Category | Level of Evidence | Best response* | Treatment access method | |
|---|---|---|---|---|---|---|---|
| Empirical/ Non-target directed therapy (n = 5) | 1 | Cholangiocarcinoma | NRAS G13R, IDH2 R42W | Cytotoxic | 3 | NA | Routine clinical mechanisms |
| 2 | Gastroesophageal cancer | NRG1 I711M, ABL1 P801R, ERBB2 RNA log2 = 4.48 | Cytotoxic | 1 | NA | Routine clinical mechanisms | |
| 3 | Mesothelioma | CHUK P330S, BAP1 fs | Cytotoxic | 4 | NA | Routine clinical mechanisms | |
| 4 | Head and neck cancer | None identified | Cytotoxic | NA | NA | Routine clinical mechanisms | |
| 5 | Cervical Cancer | PREX2 A1523P, PIK3CA copy number gain | Cytotoxic | 2 | NA | Routine clinical mechanisms | |
| Targeted Therapy (n = 13) | 6 | Uterine Cancer | PIK3CA E542K, STK11 S216F | STKI – PI3K inhibitor | 2 | SD | Clinical trial |
| 7 | Non-small cell lung cancer | PIK3CA E542K | STKI – PI3K inhibitor | 2 | SD | Clinical trial | |
| 8 | Sarcomatoid renal cell carcinoma | CCND1 P287T, YAP1 copy number gain | STKI – CDK inhibitor | 4 | PD | Clinical Trial | |
| 9 | Basal Cell Cancer | GLI2 RNA log2 = 9.35 | Inorganic compound | 2 | PD | Off label | |
| 10 | Hepatocellular carcinoma | BAP1 Y94C | TKI-MKI/HDAC inhibitor | 4 | PD | Off label | |
| 11 | Pancreatic adenocarcinoma | CSF1R RNA log2 = 4.26, JAK2 RNA log2 = 2.5 | TKI – CSF1R inhibitor | 4 | PD | Off label | |
| 12 | Melanoma | KIT D816H | TKI – MKI/KIT inhibitor | 3 | SD | Off label | |
| 13 | Cholangiocarcinoma | ERRFI1 E384X | TKI – EGFR inhibitor | 3 | PR | Off label | |
| 14 | Pancreatic adenocarcinoma | CHUK G288R, GLI3 T183S | PI | 4 | PD | Off label | |
| 15 | Pancreatic adenocarcinoma | TGFBR3 N280K, SMURF2 S135N | PI | 4 | PD | Off label | |
| 16 | Cholangiocarcinoma | Copy number gain in GLI1, FGF3, FGF4, FRS2, MDM2, & ERRB2-STARD3 fusion | TKI’s – FGFR inhibitor | 4 | PD | Off label | |
| 17 | Cholangiocarcinoma | FGFR2-MGEA5 fusion | TKI – FGFR inhibitor | 4 | PR | Off label | |
| 18 | Pancreatic adenocarcinoma | MDM2 copy number gain | MDM2-I | 4 | PD | Single patient IND | |
| No Treatment Received (n = 9) | 19 | Cholangiocarcinoma | PAK1 R371C | NA | 4 | NA | NA |
| 20 | Cholangiocarcinoma | FGFR2-BICC1 fusion | NA | 4 | NA | NA | |
| 21 | Pancreatic adenocarcinoma | NOTCH2 A21T & fs | NA | 4 | NA | NA | |
| 22 | Testicular cancer | TSSK6 copy number gain, AKT1 copy number loss | NA | 4 | NA | NA | |
| 23 | Extramedullary multiple myeloma | CRBN Q99* & R283K | NA | 3 | NA | NA | |
| 24 | Cholangiocarcinoma | None identified | NA | NA | NA | NA | |
| 25 | Pancreatic adenocarcinoma | None identified | NA | NA | NA | NA | |
| 26 | Pancreatic adenocarcinoma | None identified | NA | NA | NA | NA | |
| 27 | Pancreatic adenocarcinoma | None identified | NA | NA | NA | NA | |
| Pre-CLIA Pilot Phase (n = 6) | 28 | Pancreatic adenocarcinoma | BRCA2 compound heterozygote | NA | 3 | NA | NA |
| 29 | Gastric adenocarcinoma | FGFR2 amplification | NA | 2 | NA | NA | |
| 30 | Hepatocellular carcinoma | None identified | NA | NA | NA | NA | |
| 31 | Cholangiocarcinoma | None identified | NA | NA | NA | NA | |
| 32 | Liposarcoma | UHMK1-DDR2 fusion, copy number gain | NA | 4 | NA | NA | |
| 33 | Extramedullary myeloma | CUL4B intronic SNV | NA | 4 | NA | NA |
*RECIST response or equivalent data was not available for those patients who did not pursue genomic target directed therapy, NA = not applicable, BOLD indicates targets that validated independently in a CLIA certified laboratory, fs = frameshift, SNV = single nucleotide variant, STKI = serine threonine kinase inhibitor, PI3K = phosphatidylinositol 3-kinase, CDK = cyclin dependent kinase, TKI = tyrosine kinase inhibitor, MKI = multi-kinase inhibitor, CSF1R = colony stimulating factor 1 receptor, KIT = KIT proto-oncogene receptor tyrosine kinase, EGFR = epidermal growth factor receptor, FGFR = fibroblast growth factor receptor, HDAC = histone deacetylase, PI = proteasome inhibitor, MDM2-I = MDM2 inhibitor. Level of evidence: 1 = Validated clinical, 2 = Preclinical/limited clinical, 3 = Pre-clinical, 4 = Hypothetical/knowledge based/inferential.