pISSN 2234-3806eISSN 2234-3814
Table. 4.
Level 1 therapeutic implications currently defined in OncoKB
| Gene | Alterations | Cancer types | Drugs |
|---|---|---|---|
| Fusions | Inflammatory myofibroblastic tumor | Crizotinib | |
| Non-small cell lung cancer | Alectinib, brigatinib, ceritinib, crizotinib, lorlatinib | ||
| Oncogenic mutations | Prostate cancer (not otherwise specified), prostate cancer | Olaparib | |
| V600 | Erdheim–Chester disease | Vemurafenib | |
| Melanoma | Vemurafenib+atezolizumab+cobimetinib | ||
| V600E | All solid tumors | Dabrafenib+trametinib | |
| Colorectal cancer | Encorafenib+cetuximab | ||
| Melanoma | Dabrafenib, vemurafenib, encorafenib+binimetinib, trametinib, vemurafenib+cobimetinib | ||
| V600K | Melanoma | Encorafenib+binimetinib, trametinib, vemurafenib+cobimetinib, dabrafenib+trametinib | |
| Oncogenic mutations | Ovarian cancer, ovary/fallopian tube, peritoneal serous carcinoma | Olaparib, olaparib+bevacizumab, niraparib, rucaparib | |
| Prostate cancer (not otherwise specified), prostate cancer | Rucaparib | ||
| Exon 19 in-frame deletions, L858R | Non-small cell lung cancer | Erlotinib, erlotinib+ramucirumab, afatinib, dacomitinib, gefitinib, osimertinib | |
| Exon 20 in-frame insertions | Non-small cell lung cancer | Amivantamab, mobocertinib | |
| G719, L861Q, S768I | Non-small cell lung cancer | Afatinib | |
| T790M | Non-small cell lung cancer | Osimertinib | |
| Amplification | Breast cancer | Ado-trastuzumab emtansine, lapatinib+capecitabine, lapatinib+letrozole, margetuximab+chemotherapy, neratinib, neratinib+capecitabine, trastuzumab+pertuzumab+chemotherapy, trastuzumab+tucatinib+capecitabine, trastuzumab deruxtecan, trastuzumab, trastuzumab+chemotherapy | |
| Colorectal cancer | Tucatinib+trastuzumab | ||
| Esophagogastric cancer | Pembrolizumab+trastuzumab+chemotherapy, trastuzumab+chemotherapy, trastuzumab deruxtecan | ||
| Oncogenic mutations | Non-small cell lung cancer | Trastuzumab deruxtecan | |
| Fusions | Bladder cancer | Erdafitinib | |
| Fusions | Cholangiocarcinoma | Futibatinib, infigratinib, pemigatinib | |
| Fusions | Bladder cancer | Erdafitinib | |
| G370C, R248C, S249C, Y373C | Bladder cancer | Erdafitinib | |
| R132 | Intrahepatic cholangiocarcinoma, cholangiocarcinoma | Ivosidenib | |
| D816 | Mastocytosis | Avapritinib | |
| Oncogenic mutations | Gastrointestinal stromal tumor | Imatinib, regorafenib, ripretinib, sunitinib | |
| G12C | Non-small cell lung cancer | Sotorasib, adagrasib | |
| D1010, exon 14 deletion, exon 14 in-frame deletions, exon 14 splice mutations | Non-small cell lung cancer | Capmatinib, tepotinib | |
| Oncogenic mutations | Neurofibroma | Selumetinib | |
| Fusions | All solid tumors | Entrectinib, larotrectinib | |
| COL1A1-PDGFB fusion | Dermatofibrosarcoma protuberans | Imatinib | |
| Exon 18 in-frame deletions, exon 18 in-frame insertions, exon 18 missense mutations | Gastrointestinal stromal tumor | Avapritinib | |
| C420R, E542K, E545A, E545D, E545G, E545K, H1047L, H1047R, H1047Y, Q546E, Q546R | Breast cancer | Alpelisib+fulvestrant | |
| Fusions | All solid tumors | Selpercatinib | |
| Non-small cell lung cancer | Pralsetinib, selpercatinib | ||
| Thyroid cancer | Pralsetinib, selpercatinib | ||
| Oncogenic mutations | Medullary thyroid cancer | Pralsetinib, selpercatinib | |
| Fusions | Non-small cell lung cancer | Crizotinib, entrectinib | |
| Deletion | Epithelioid sarcoma | Tazemetostat | |
| Oncogenic mutations | Encapsulated glioma | Everolimus |
Ann Lab Med 2024;44:195~209 https://doi.org/10.3343/alm.2023.0389
© Ann Lab Med