Pharmacogenomics of soft tissue sarcomas: New horizons to understand efficacy and toxicity

Stiller, 2013, Descriptive epidemiology of sarcomas in Europe: report from the RARECARE project, Eur. J. Cancer, 49, 684, 10.1016/j.ejca.2012.09.011 Jo, 2014, WHO classification of soft tissue tumours: an update based on the 2013 (4th) edition, Pathology, 46, 95, 10.1097/PAT.0000000000000050 Casali, 2018, Soft tissue and visceral sarcomas: ESMO–EURACAN clinical practice guidelines for diagnosis, treatment and follow-up, Ann. Oncol., 29, iv51, 10.1093/annonc/mdy096 Antman, 1993, An intergroup phase III randomized study of doxorubicin and dacarbazine with or without ifosfamide and mesna in advanced soft tissue and bone sarcomas, J. Clin. Oncol., 11, 1276, 10.1200/JCO.1993.11.7.1276 D'Ambrosio, 2020, Cancer., 126, 2637, 10.1002/cncr.32795 Stacchiotti, 2012, Gemcitabine in advanced angiosarcoma: a retrospective case series analysis from the Italian rare cancer network, Ann. Oncol., 23, 501, 10.1093/annonc/mdr066 Seddon, 2017, Gemcitabine and docetaxel versus doxorubicin as first-line treatment in previously untreated advanced unresectable or metastatic soft-tissue sarcomas (GeDDiS): a randomised controlled phase 3 trial, Lancet Oncol., 18, 1397, 10.1016/S1470-2045(17)30622-8 Penel, 2008, Phase II trial of weekly paclitaxel for unresectable angiosarcoma: the ANGIOTAX Study, J. Clin. Oncol., 26, 5269, 10.1200/JCO.2008.17.3146 Drilon, 2018, Efficacy of larotrectinib in TRK fusion-positive cancers in adults and children, N. Engl. J. Med., 378, 731, 10.1056/NEJMoa1714448 Doebele, 2020, Entrectinib in patients with advanced or metastatic NTRK fusion-positive solid tumours: integrated analysis of three phase 1-2 trials, Lancet Oncol., 21, 271, 10.1016/S1470-2045(19)30691-6 Demetri, 2020, Diagnosis and management of tropomyosin receptor kinase (TRK) fusion sarcomas: expert recommendations from the world sarcoma network, Ann. Oncol., 31, 1506, 10.1016/j.annonc.2020.08.2232 Le Cesne, 1995, High-dose ifosfamide: circumvention of resistance to standard-dose ifosfamide in advanced soft tissue sarcomas, J. Clin. Oncol., 13, 1600, 10.1200/JCO.1995.13.7.1600 Martin-Liberal, 2013, Clinical activity and tolerability of a 14-day infusional Ifosfamide schedule in soft-tissue sarcoma, Sarcoma, 2013, 10.1155/2013/868973 Demetri, 2016, Efficacy and safety of trabectedin or dacarbazine for metastatic liposarcoma or leiomyosarcoma after failure of conventional chemotherapy: results of a phase III randomized multicenter clinical trial, J. Clin. Oncol., 34, 786, 10.1200/JCO.2015.62.4734 van der Graaf, 2012, Pazopanib for metastatic soft-tissue sarcoma (PALETTE): a randomised, double-blind, placebo-controlled phase 3 trial, Lancet, 379, 1879, 10.1016/S0140-6736(12)60651-5 Schoffski, 2016, Eribulin versus dacarbazine in previously treated patients with advanced liposarcoma or leiomyosarcoma: a randomised, open-label, multicentre, phase 3 trial, Lancet, 387, 1629, 10.1016/S0140-6736(15)01283-0 Maki, 2007, Randomized phase II study of gemcitabine and docetaxel compared with gemcitabine alone in patients with metastatic soft tissue sarcomas: results of sarcoma alliance for research through collaboration study 002 [corrected], J. Clin. Oncol., 25, 2755, 10.1200/JCO.2006.10.4117 Frezza, 2018, Anthracycline, gemcitabine, and pazopanib in epithelioid sarcoma: a multi-institutional case series, JAMA Oncol, 4, 10.1001/jamaoncol.2018.0219 Garcia-Del-Muro, 2011, Randomized phase II study comparing gemcitabine plus dacarbazine versus dacarbazine alone in patients with previously treated soft tissue sarcoma: a Spanish group for research on sarcomas study, J. Clin. Oncol., 29, 2528, 10.1200/JCO.2010.33.6107 Lauschke, 2017, Pharmacogenomic biomarkers for improved drug therapy-recent progress and future developments, AAPS J., 20, 4, 10.1208/s12248-017-0161-x Caruso, 2020, Pharmacogenomics biomarkers of soft tissue sarcoma therapies, Front. Oncol., 10, 509, 10.3389/fonc.2020.00509 Chan, 2019, The roles of common variation and somatic mutation in cancer pharmacogenomics, Oncol. Ther., 7, 1, 10.1007/s40487-018-0090-6 Jin, 2019, Identification of genetic mutations in cancer: challenge and opportunity in the new era of targeted therapy, Front. Oncol., 9, 263, 10.3389/fonc.2019.00263 Houtsma, 2010, Pharmacogenetics in oncology: a promising field, Curr. Pharm. Des., 16, 155, 10.2174/138161210790112719 Ueno, 2007, Pharmacogenomics of gemcitabine: can genetic studies lead to tailor-made therapy?, Br. J. Cancer, 97, 145, 10.1038/sj.bjc.6603860 Lal, 2007, Novel SLC22A16 polymorphisms and influence on doxorubicin pharmacokinetics in Asian breast cancer patients, Pharmacogenomics, 8, 567, 10.2217/14622416.8.6.567 Mitra, 2012, Pathway-based pharmacogenomics of gemcitabine pharmacokinetics in patients with solid tumors, Pharmacogenomics, 13, 1009, 10.2217/pgs.12.81 Okabe, 2005, Characterization of the organic cation transporter SLC22A16: a doxorubicin importer, Biochem. Biophys. Res. Commun., 333, 754, 10.1016/j.bbrc.2005.05.174 Schaller, 2019, The genetic landscape of the human solute carrier (SLC) transporter superfamily, Hum. Genet., 138, 1359, 10.1007/s00439-019-02081-x Vincenzi, 2017, Human equilibrative nucleoside transporter 1 gene expression is associated with gemcitabine efficacy in advanced leiomyosarcoma and angiosarcoma, Br. J. Cancer, 117, 340, 10.1038/bjc.2017.187 Santini, 2011, Human equilibrative nucleoside transporter 1 (hENT1) levels predict response to gemcitabine in patients with biliary tract cancer (BTC), Curr. Cancer Drug Targets., 11, 123, 10.2174/156800911793743600 Borbath, 2012, Human equilibrative nucleoside transporter 1 (hENT1) expression is a potential predictive tool for response to gemcitabine in patients with advanced cholangiocarcinoma, Eur. J. Cancer, 48, 990, 10.1016/j.ejca.2011.11.006 Matsumura, 2011, The prognostic significance of human equilibrative nucleoside transporter 1 expression in patients with metastatic bladder cancer treated with gemcitabine-cisplatin-based combination chemotherapy, BJU Int., 108, E110, 10.1111/j.1464-410X.2010.09932.x Oguri, 2007, The absence of human equilibrative nucleoside transporter 1 expression predicts nonresponse to gemcitabine-containing chemotherapy in non-small cell lung cancer, Cancer Lett., 256, 112, 10.1016/j.canlet.2007.06.012 Pautier, 2012, Oncologist, 17, 1213, 10.1634/theoncologist.2011-0467 Xiao, 2021, Clinically-relevant ABC transporter for anti-cancer drug resistance, Front. Pharmacol., 12, 10.3389/fphar.2021.648407 Taylor, 2017, Structure of the human multidrug transporter ABCG2, Nature, 546, 504, 10.1038/nature22345 Robey, 2018, Revisiting the role of ABC transporters in multidrug-resistant cancer, Nat. Rev. Cancer, 18, 452, 10.1038/s41568-018-0005-8 Gillet, 2010, Mechanisms of multidrug resistance in cancer, Methods Mol. Biol., 2010, 47, 10.1007/978-1-60761-416-6_4 Molina-Ortiz, 2018, MDR1 not CYP3A4 gene expression is the predominant mechanism of innate drug resistance in pediatric soft tissue sarcoma patients, Cancer Biomark, 22, 317, 10.3233/CBM-171027 Maillard, 2020, Pharmacogenetic study of trabectedin-induced severe hepatotoxicity in patients with advanced soft tissue sarcoma, Cancers (Basel), 12, 3647, 10.3390/cancers12123647 Laurenty, 2013, Irreversible hepatotoxicity after administration of trabectedin to a pleiomorphic sarcoma patient with a rare ABCC2 polymorphism: a case report, Pharmacogenomics, 14, 1389, 10.2217/pgs.13.124 Kerr, 2011, The ABCG family of membrane-associated transporters: you don't have to be big to be mightyBr, J. Pharmacol., 164, 1767 Frances A., Cordelier P. The emerging role of cytidine deaminase in human diseas 2011. Liou, 2002, Characterization of human UMP/CMP kinase and its phosphorylation of d- and l-form deoxycytidine analogue monophosphates, Cancer Res., 62, 1624 McFadyen, 2004, Cytochrome P450 enzymes: novel options for cancer therapeutics, Mol. Cancer Ther., 3, 363, 10.1158/1535-7163.363.3.3 Roy, 1999, Development of a substrate-activity based approach to identify the major human liver P-450 catalysts of cyclophosphamide and ifosfamide activation based on cDNA-expressed activities and liver microsomal P-450 profiles, Drug Metab. Dispos., 27, 655 Xie, 2003, Role of polymorphic human CYP2B6 in cyclophosphamide bioactivation, Pharmacogenomics J., 3, 53, 10.1038/sj.tpj.6500157 Labib, 2016, CYP2B6rs2279343 is associated with improved survival of pediatric rhabdomyosarcoma treated with cyclophosphamide, PLoS ONE, 11, 10.1371/journal.pone.0158890 Werk, 2014, Functional gene variants of CYP3A4, Clin. Pharmacol. Ther., 96, 340, 10.1038/clpt.2014.129 Park, 2014, CYP3A5 * 3 polymorphism and its clinical implications and pharmacokinetic role, Translational and Clin. Pharmacol., 22, 3, 10.12793/tcp.2014.22.1.3 Gao, 2021, Integrative analysis the characterization of peroxiredoxins in pan-cancer, Cancer Cell Int., 21, 366, 10.1186/s12935-021-02064-x Italiano, 2011, ERCC5/XPG, ERCC1, and BRCA1 gene status and clinical benefit of trabectedin in patients with soft tissue sarcoma, Cancer, 117, 3445, 10.1002/cncr.25925 Monk, 2016, Trabectedin as a chemotherapy option for patients with BRCA deficiency, Cancer Treat Rev., 50, 175, 10.1016/j.ctrv.2016.09.009 Mlakar, 2021, The analysis of GSTA1 promoter genetic and functional diversity of human populations, Sci. Rep., 11, 5038, 10.1038/s41598-021-83996-2 Akhdar, 2016, The rs3957357C>T SNP in GSTA1 is associated with a higher risk of occurrence of hepatocellular carcinoma in European individuals, PLoS ONE, 11, 10.1371/journal.pone.0167543 Gelderblom, 2014, Eur. J. Cancer, 50, 388, 10.1016/j.ejca.2013.10.002 Benna, 2018, Associations of clock genes polymorphisms with soft tissue sarcoma susceptibility and prognosis, J. Transl. Med., 16, 338, 10.1186/s12967-018-1715-0 Adorno-Cruz, 2018, Regulation and functions of integrin α2 in cell adhesion and disease, Genes Dis., 6, 16, 10.1016/j.gendis.2018.12.003 Ren, 2019, Overexpressed ITGA2 promotes malignant tumor aggression by up-regulating PD-L1 expression through the activation of the STAT3 signaling pathway, J. Exp. Clin. Cancer Res., 38, 485, 10.1186/s13046-019-1496-1 Bao, 2019, VEGFR2 and ITGA polymorphisms as novel predictors of therapeutic response and toxicities for pediatric and young adult sarcoma undergoing anti-angiogenic therapy, Ann. Oncol., 30 Grillo, 2021, A novel variant of VEGFR2 identified by a pan-cancer screening of recurrent somatic mutations in the catalytic domain of tyrosine kinase receptors enhances tumor growth and metastasis, Cancer Lett., 496, 84, 10.1016/j.canlet.2020.09.027 Zhong, 2021, Small molecules in targeted cancer therapy: advances, challenges, and future perspectives, Signal Transduct Target Ther., 6, 201, 10.1038/s41392-021-00572-w Gounder, 2020, Tazemetostat in advanced epithelioid sarcoma with loss of INI1/SMARCB1: an international, open-label, phase 2 basket study, Lancet Oncol., 21, 1423, 10.1016/S1470-2045(20)30451-4 Haddox, 2020, Individualizing systemic therapy for advanced soft tissue sarcomas based on tumor histology and biology, Expert Rev. Anticancer Ther., 20, 5, 10.1080/14737140.2020.1708198 Chudasama, 2018, Integrative genomic and transcriptomic analysis of leiomyosarcoma, Nat. Commun., 9, 144, 10.1038/s41467-017-02602-0 Grignani, 2018, Trabectedin and olaparib in patients with advanced and non-resectable bone and soft-tissue sarcomas (TOMAS): an open-label, phase 1b study from the Italian sarcoma Group, Lancet Oncol., 19, 1360, 10.1016/S1470-2045(18)30438-8 Martì, 2020, The multifactorial role of PARP-1 in tumor microenvironment, Cancers (Basel), 12, 739, 10.3390/cancers12030739 Vikas, 2020, Therapeutic potential of combining PARP inhibitor and immunotherapy in solid tumors, Front. Oncol., 10, 570, 10.3389/fonc.2020.00570 Birdi, 2021, Immunotherapy for sarcomas: new frontiers and unveiled opportunities, J. Immunother Cancer, 9, 10.1136/jitc-2020-001580 Tawbi, 2017, Pembrolizumab inadvanced soft-tissue sarcoma and bone sarcoma (SARC028): a multicentre, two-cohort, singlearm, open-label, phase 2 trial, The Lancet Oncol., 18, 1493, 10.1016/S1470-2045(17)30624-1 Chawla S.P., Van Tine B.A., Pollack S.M., Ganjoo K.N., Elias A.D., Riedel R.F., Attia S., Choy E., Okuno S.H., Agulnik M., von Mehren M., Livingston M.B., Keedy V.L., Verschraegen C.F., Philip T., Bohac G.C., Yurasov S., Yakovich A., Lu H., Chen M., Maki R.G. Phase II Randomized Study of CMB305 and Atezolizumab compared with atezolizumab alone in soft-tissue sarcomas expressing NY-ESO-1. J. Clin. Oncol. 2021 Jul 14:JCO2003452. doi: 10.1200/JCO.20.03452. Epub ahead of print. PMID: 34260265. Koehler, 2016, TP53 mutational status is predictive of pazopanib response in advanced sarcomas, Ann. Oncol., 27, 539, 10.1093/annonc/mdv598 Sleijfer, 2012, Cytokine and angiogenic factors associated with efficacy and toxicity of pazopanib in advanced soft-tissue sarcoma: an EORTC-STBSG study, Br. J. Cancer, 107, 639, 10.1038/bjc.2012.328 Schöffski, 2011, Predictive impact of DNA repair functionality on clinical outcome of advanced sarcoma patients treated with trabectedin: a retrospective multicentric study, Eur. J. Cancer Oxf. Engl., 47, 1006, 10.1016/j.ejca.2011.01.016 Qi, 2015, Identification of potential mutations and genomic alterations in the epithelial and spindle cell components of biphasic synovial sarcomas using a human exome SNP chip, BMC Med. Genomics, 8, 69, 10.1186/s12920-015-0144-7