Table 6.
Test ID | Tumor type | Actionable genomic alterations | Est. % tum. affect. | Associated drugs |
---|---|---|---|---|
ONCOE.001 | Lung adenocarcinoma | KRAS c.35G>T; p.G12V | 50–100 | Everolimus, temsirolimus, trametinib |
STK11 c.169G>T; p.E57* | 50–100 | Bosutinib, dasatinib, everolimus, temsirolimus, trametinib | ||
ONCOE.002 | Melanoma | CDKN2A c.143C>T; p.P48L | 45–100 | Palbociclib |
ONCOE.003 | Poorly diff. lung adenocarcinoma | None | NA | None |
ONCOE.004 | Undiff. renal carcinoma | None | NA | None |
ONCOE.005 | Lung adenocarcinoma | EGFR c.2573T>G; p.L858R | 100 | Afatinib, erlotinib, gefitinib |
ONCOE.006 | Thyroid anaplastic carcinoma | PIK3CA c.1624G>A; p.E542K | 10–30 | Everolimus, temsirolimus |
NRAS c.181C>A; p.Q61K | 5–20 | Trametinib | ||
ONCOE.007 | Laryngeal squamous cell carcinoma | BAP1 c.1379C>G; p.S460* | 95–100 | Olaparib, valproic acida |
FGFR1 amplif. | NE | Pazopanib, ponatinib | ||
ONCOE.008 | Lung adenocarcinomab | EGFR c.2237_2254del; p.E746_S752delinsA | 75–100 | Afatinib, afatinib + cetuximab, erlotinib, gefitinib, |
ONCOE.009 | Paraganglioma | None | NA | None |
ONCOE.010 | Thyroid medular carcinoma | RET c.2753T>C; p.M918T | 50–100 | Cabozantinib, sunitinib, vandetanib |
EPHA2 c.1171G>A; p.G391R | 15–40 | Bosutinib, dasatinib, everolimus, temsirolimus | ||
KRAS c.35G>C; p.G12A | ≤10 | Everolimus/temsirolimus + trametinib,gemcitabine + trametinib, trametinib | ||
ONCOE.011 | Tongue squamous cell carcinoma | EGFR amplif. | NE | Cetuximab |
ONCOE.012 | Lung squamous carcinoma | PTEN c.802‐2A>T | 25–60 | Everolimus, olaparib, temsirolimus |
CDKN2A c.71G>C; p.R24P | 20–50 | Palbociclib | ||
NF1 c.3299_3300del; p.A110Vfs4* | 15–40 | Everolimus, temsirolimus, trametinib | ||
FGFR2 c.758C>G; p.P253R | 5–20 | Pazopanib | ||
ONCOE.013 | Primary peritoneal adenocarcinoma | ERBB2 amplif. | NE | Ado‐trastuzumab, afatinib, emtansine, lapatinib, pertuzumab, trastuzumab |
CDKN2A c.172C>T; p.R58* | 40–90 | Palbociclib | ||
ONCOE.014 | Liposarcoma | FRS2 amplif. | NE | Nintedanib, pazopanib, ponatinib |
CDK4 amplif | NE | Palbociclib | ||
ONCOE.015 | Esophageal epidermoid carcinoma | CDKN2A c.176T>G; p.V59G | 45–100 | Palbociclib |
ONCOE.017 | Lung adenocarcinoma | KRAS c.183A>C; p.Q61H | 30–70 | Everolimus, palbociclib, temsirolimus, trametinib |
STK11 c.157_158insG; p.D53Gfs*110 | 40–90 | Bosutinib, dasatinib, everolimus, temsirolimus, trametinib | ||
ONCOE.018 | Colorectal adenocarcinoma | CD274 amplif. | NE | Nivolumab, pembrolizumab |
KRAS c.35G>A; p.G12D | 45–100 | Cetuximab (no response), cobimetinib, palbociclib, panitumumab (no response), trametinib | ||
ONCOE.019 | Lung acinar adenocarcinoma | FRS2 amplif. | NE | Nintedanib, pazopanib, ponatinib |
NF1 deletion | NE | Everolimus, temsirolimus, trametinib | ||
CCND1 amplif. | NE | Palbociclib | ||
CDK4 amplif. | NE | Palbociclib | ||
ONCOE.020 | Mediastinal choriocarcinoma | PTEN c.328C>T; p.Q110* | 45–100 | Everolimus, olaparib, temsirolimus |
ONCOE.021 | Lung adenocarcinoma | KRAS c.37G>T; p.G13C | 40–90 | Everolimus, palbociclib, temsirolimus, trametinib |
STK11 c.290 + 1G>C | 45–100 | Bosutinib, dasatinib, everolimus, temsirolimus, trametinib | ||
ONCOE.023 | Lymph node metastasis of adenocarcinoma of unknown primary site | BAP1 deletion | 100 | Olaparib, platinum derivatives |
BAP1 c.1769A>T; p.Q590L | 100 | |||
PALB2 deletion | 100 | Olaparib, platinum derivatives | ||
PALB2 c.2590C>T; p.P864S | 100 | |||
FBXW7 deletion | 100 | Taxanes (resistance) | ||
TSC1 deletion | 100 | Everolimus | ||
TSC2 deletion | 100 | Everolimus | ||
FLCN deletion | 100 | Everolimus | ||
PTCH1 deletion | 100 | Vismodegib | ||
PTCH1 c.505G>A; p.V169I | 100 | |||
ONCOE.024 | Lung adenocarcinoma | NF1 c.7127‐1G>T | 30–70 | Everolimus, temsirolimus, trametinib |
NF1 c.7395‐1G>T | 30–70 | |||
ONCOE.025 | Glioblastoma multiforme | EGFRvIII variant (exons 2‐7 deletion) | NE | Erlotinib (no response) |
CDKN2A deletion | 100 | Palbociclib | ||
CDKN2B deletion | 100 | Palbociclib | ||
ONCOE.026 | Müllerian carcinosarcoma | None | NA | None |
ONCOE.027 | Lung adenocarcinoma with lepidic pattern | KRAS c.38G>A; p.G13D | 15–40 | Afatinib (no response), cobimetinib, erlotinib (no response), gefitinib (no response), palbociclib, trametinib |
KRAS c.34G>T; p.G12C | 5–20 | |||
ATM c.8851‐2_8851‐1delAGinsTT | 5–20 | Olaparib | ||
ONCOE.028 | Germ cell ovarian tumor (Sertoli‐Leydig cell tumor) | NF1 deletion | NE | Cobimetinib, everolimus, temsirolimus, trametinib |
CTNNB1 c.110C>G; p.S37C | 5–20 | Everolimus + letrozole | ||
CDK6 amplif. | NE | Palbociclib | ||
ONCOE.029 | Colorectal adenocarcinoma | KRAS c.35G>A; p.G12D | 25–60 | Cetuximab (no response), cobimetinib, palbociclib, panitumumab (no response), trametinib |
ONCOE.030 | Colorectal adenocarcinoma | KRAS c.35G>T; p.G12V | 30–70 | Cetuximab (no response), cobimetinib, palbociclib, panitumumab (no response), trametinib |
ONCOE.031 | PEComa | PDGFRA c.2526_2537del; p.I843_D846del | 20–50 | Imatinib, regorafenib, sunitinib |
ATR deletion | NE | Olaparib | ||
ONCOE.032 | Colorectal adenocarcinoma | FLCN deletion | NE | Everolimus, temsirolimus |
PIK3R1 deletion | NE | Everolimus, temsirolimus | ||
ONCOE.034 | Small cell lung cancer | PTEN deletion | 100 | Everolimus, olpaparib, temsirolimus |
PTEN c.867dupA; p.V290Sfs*8 | 100 | |||
BAP1 deletion | NE | Olaparib, panobinostat, valproic acid, vorinostat | ||
BRCA2 deletion | NE | Nivolumab, olaparib, pembrolizumab | ||
FLCN deletion | NE | Everolimus, temsirolimus | ||
PIK3R1 deletion | NE | Everolimus, temsirolimus | ||
ONCOE.035 | Colorectal adenocarcinoma | BRAF c.1799T>A; p.V600E | 25–60 | Cetuximab (no response), dabrafenib + trametinib, panitumumab (no response), vemurafenib (no response) |
ONCOE.036 | Nasal teratocarcinosarcoma | CCND1 amplification | NE | Palbociclib |
CDKN2A deletion | NE | Palbociclib | ||
CDKN2B deletion | NE | Palbociclib | ||
PALB2 c.1547delG; p.R516Kfs*45 | 10–30 | Olaparib | ||
ONCOE.039 | Rectal adenocarcinoma | NF1 c.204 + 1G>T | 70–100 | Everolimus, temsirolimus, trametinib, cobimetinib |
ONCOT.040 | Papillary thyroid cancer | BRAF c.1799T>A; p.V600E | 45–100 | Vemurafenib, dabrafenib, trametinib, cobimetinib, dabrafenib + trametinib |
PIK3CA c.1258T>C; p.C420R | 25–60 | Everolimus, temsirolimus | ||
PIK3CA c.3145G>C; p.G1049R | 30–70 | |||
ONCOT.041 | Adenocarcinoma of unknown primary site (sample origin: pleura) | EGFR c.2573T>G; p.L858R (+ mutant allele amplification) | 80–100 | Erlotinib, afatinib, gefitinib |
ONCOT.043 | Ovarian serous papillary carcinoma | NF1 c.320delC; p.T107Rfs*58 | 85–100 | Everolimus, temsirolimus, trametinib, cobimetinib |
ONCOT.044 | Mesenteric fibromatosis | CTNNB1 c.133T>C; p.S45P | 30–70 | Imatinib, everolimus + exemestane |
ONCOC.001_T | Pancreatic adenocarcinoma | FBXW7 c.1013_1016delGAAGinsAAA; p.R338Kfs*4 | 35–80 | Everolimus, temsirolimus |
FBXW7 c.1053G>A; p.W351* | 35–80 | |||
FBXW7 c.1095G>A; p.W365* | 35–80 | |||
KRAS c.34G>T; p.G12C | 45–100 | Trametinib, cobimetinib, palbociclib |
Valproic acid is not an approved cancer drug, but it is a widely used and easily accessible HDAC inhibitor approved for the treatment of neurological disorders.
Initial diagnosis: breast adenocarcinoma. Definitive diagnosis: lung adenocarcinoma (after pathology review motivated by NGS results).