The Role of Single Nucleotide Polymorphisms in Transporter Proteins and the Folate Metabolism Pathway in Delayed Methotrexate Excretion: A Case Report and Literature Review

References

• Belayneh R, Fourman MS, Bhogal S, et al. Update on osteosarcoma. Curr Oncol Rep. 2021;23(6):71. doi:10.1007/s11912-021-01053-7
   PubMed Web of Science ®Google Scholar
• Isakoff MS, Bielack SS, Meltzer P, et al. Osteosarcoma, current treatment and a collaborative pathway to success. J Clin Oncol. 2015;33(27):3029–3035. doi:10.1200/JCO.2014.59.4895
   PubMed Web of Science ®Google Scholar
• Abe K, MAEDA-MINAMI A, Ishizu T, et al. Risk factors for hepatic toxicity of high-dose methotrexate in patients with osteosarcoma. Anticancer Res. 2022;42(2):1043–1050. doi:10.21873/anticanres.15565
   PubMed Web of Science ®Google Scholar
• Brown P, Inaba H, Annesley C, et al. Pediatric acute lymphoblastic leukemia, version 2.2020, NCCN clinical practice guidelines in oncology. J Natl Compr Canc Netw. 2020;18(1):81–112.
   PubMed Web of Science ®Google Scholar
• Widemann BC, Balis FM, Kempf-Bielack B, et al. High-dose methotrexate-induced nephrotoxicity in patients with osteosarcoma. Cancer. 2004;100(10):2222–2232. doi:10.1002/cncr.20255
   PubMed Web of Science ®Google Scholar
• Lee KM, Lee HW, Kim SY, et al. Two pediatric osteosarcoma cases with delayed methotrexate excretion, its clinical course and management. Cancer Res Treat. 2011;43(1):67–70. doi:10.4143/crt.2011.43.1.67
   PubMed Web of Science ®Google Scholar
• Lui G, Treluyer J-M, Fresneau B, et al. A pharmacokinetic and pharmacogenetic analysis of osteosarcoma patients treated with high-dose methotrexate, data from the OS2006/Sarcoma-09 Trial. J Clin Pharmacol. 2018;58(12):1541–1549. doi:10.1002/jcph.1252
   PubMed Web of Science ®Google Scholar
• Esmaili MA, Kazemi A, Faranoush M, et al. Polymorphisms within methotrexate pathway genes, relationship between plasma methotrexate levels, toxicity experienced and outcome in pediatric acute lymphoblastic leukemia. Iran J Basic Med Sci. 2020;23(6):800–809. doi:10.22038/ijbms.2020.41754.9858
   PubMed Web of Science ®Google Scholar
• Buchen S, Ngampolo D, Melton RG, et al. Carboxypeptidase G2 rescue in patients with methotrexate intoxication and renal failure. Br J Cancer. 2005;92(3):480–487. doi:10.1038/sj.bjc.6602337
   PubMed Web of Science ®Google Scholar
• Misaka KO, Suga Y, Staub Y, et al. Risk factors for delayed elimination of methotrexate in children, adolescents and young adults with osteosarcoma. In Vivo. 2020;34(6):3459–3465. doi:10.21873/invivo.12185
   PubMed Web of Science ®Google Scholar
• Frikha R, Elloumi M, Rebai T, et al. MTHFR 677T-1298C haplotype in acute lymphoblastic leukemia, impact on methotrexate therapy. J Oncol Pharm Pract;2021. 10781552211017193. doi:10.1177/10781552211017193
   Web of Science ®Google Scholar
• Yazicioglu B, Kaya Z, Güntekin Ergün S, et al. Influence of folate-related gene polymorphisms on high-dose methotrexate-related Toxicity and prognosis in Turkish children with acute lymphoblastic leukemia. Turk J Haematol. 2017;34(2):143–150. doi:10.4274/tjh.2016.0007
   PubMed Web of Science ®Google Scholar
• Yang L, Wu H, Gelder TV, et al. SLCO1B1 rs4149056 genetic polymorphism predicting methotrexate toxicity in Chinese patients with non-Hodgkin lymphoma. Pharmacogenomics. 2017;18(17):1557–1562. doi:10.2217/pgs-2017-0110
   PubMed Web of Science ®Google Scholar
• Han J, Liu L, Meng L, et al. Effect of Polymorphisms of ABCB1 and MTHFR on methotrexate-related toxicities in adults with hematological malignancies. Front Oncol. 2021;11:759805. doi:10.3389/fonc.2021.759805
   PubMed Web of Science ®Google Scholar
• Hegyi M, Arany A, Semsei AF, et al. Pharmacogenetic analysis of high-dose methotrexate treatment in children with osteosarcoma. Oncotarget. 2017;8(6):9388–9398. doi:10.18632/oncotarget.11543
   PubMedGoogle Scholar
• Goricar K, Kovač V, Jazbec J, et al. Influence of the folate pathway and transporter polymorphisms on methotrexate treatment outcome in osteosarcoma. Pharmacogenet Genomics. 2014;24(10):514–521. doi:10.1097/FPC.0000000000000083
   PubMed Web of Science ®Google Scholar
• Lambrecht L, Sleurs C, Labarque V, et al. The role of the MTHFR C677T polymorphism in methotrexate-induced toxicity in pediatric osteosarcoma patients. Pharmacogenomics. 2017;18(8):787–795. doi:10.2217/pgs-2017-0013
   PubMed Web of Science ®Google Scholar
• Hattinger CM, Biason P, Iacoboni E, et al. Candidate germline polymorphisms of genes belonging to the pathways of four drugs used in osteosarcoma standard chemotherapy associated with risk, survival and toxicity in non-metastatic high-grade osteosarcoma. Oncotarget. 2016;7(38):61970–61987. doi:10.18632/oncotarget.11486
   PubMedGoogle Scholar
• Jabeen S, Holmboe L, Alnæs GIG, et al. Impact of genetic variants of RFC1, DHFR and MTHFR in osteosarcoma patients treated with high-dose methotrexate. Pharmacogenomics J. 2015;15(5):385–390. doi:10.1038/tpj.2015.11
   PubMed Web of Science ®Google Scholar
• Hagleitner MM, Coenen MJH, Aplenc R, et al. The role of the MTHFR 677C>T polymorphism in methotrexate-induced liver toxicity: a meta-analysis in patients with cancer. Pharmacogenomics J. 2014;14(2):115–119. doi:10.1038/tpj.2013.19
   PubMed Web of Science ®Google Scholar
• Windsor RE, Strauss SJ, Kallis C, et al. Germline genetic polymorphisms may influence chemotherapy response and disease outcome in osteosarcoma, a pilot study. Cancer. 2012;118(7):1856–1867. doi:10.1002/cncr.26472
   PubMed Web of Science ®Google Scholar
• Patino-Garcia A, Zalacaín M, Marrodán L, et al. Methotrexate in pediatric osteosarcoma, response and toxicity in relation to genetic polymorphisms and dihydrofolate reductase and reduced folate carrier 1 expression. J Pediatr. 2009;154(5):688–693. doi:10.1016/j.jpeds.2008.11.030
   PubMed Web of Science ®Google Scholar
• Muller J, Kralovánszky J, Adleff V, et al. Toxic encephalopathy and delayed MTX clearance after high-dose methotrexate therapy in a child homozygous for the MTHFR C677T polymorphism. Anticancer Res. 2008;28(5B):3051–3054.
   PubMed Web of Science ®Google Scholar
• Caronia D, Patiño-Garcia A, Peréz-Martínez A, et al. Effect of ABCB1 and ABCC3 polymorphisms on osteosarcoma survival after chemotherapy, a pharmacogenetic study. PLoS One. 2011;6(10):e26091. doi:10.1371/journal.pone.0026091
   PubMed Web of Science ®Google Scholar
• Taylor ZL, Vang J, Lopez-Lopez E, et al. Systematic review of pharmacogenetic factors that influence high-dose methotrexate pharmacokinetics in pediatric malignancies. Cancers (Basel). 2021;13(11):2837. doi:10.3390/cancers13112837
   PubMed Web of Science ®Google Scholar
• Trevino LR, Shimasaki N, Yang W, et al. Germline genetic variation in an organic anion transporter polypeptide associated with methotrexate pharmacokinetics and clinical effects. J Clin Oncol. 2009;27(35):5972–5978. doi:10.1200/JCO.2008.20.4156
   PubMed Web of Science ®Google Scholar
• Ramsey LB, Panetta JC, Smith C, et al. Genome-wide study of methotrexate clearance replicates SLCO1B1. Blood. 2013;121(6):898–904. doi:10.1182/blood-2012-08-452839
   PubMed Web of Science ®Google Scholar
• Uhlen M, Fagerberg L, Hallström BM, et al. Proteomics. Tissue-based map of the human proteome. Science. 2015;347(6220):1260419. doi:10.1126/science.1260419
   PubMed Web of Science ®Google Scholar
• Wang SM, Sun LL, Zeng WX, et al. Effects of a microRNA binding site polymorphism in SLC19A1 on methotrexate concentrations in Chinese children with acute lymphoblastic leukemia. Med Oncol. 2014;31(7):62. doi:10.1007/s12032-014-0062-0
   PubMed Web of Science ®Google Scholar
• Mikkelsen TS, Thorn CF, Yang JJ, et al. PharmGKB summary, methotrexate pathway. Pharmacogenet Genomics. 2011;21(10):679–686. doi:10.1097/FPC.0b013e328343dd93
   PubMed Web of Science ®Google Scholar
• Chae H, Kim M, Choi SH, et al. Influence of plasma methotrexate level and MTHFR genotype in Korean paediatric patients with acute lymphoblastic leukaemia. J Chemother. 2020;32(5):251–259. doi:10.1080/1120009X.2020.1764280
   PubMed Web of Science ®Google Scholar
• Chiusolo P, Giammarco S, Bellesi S, et al. The role of MTHFR and RFC1 polymorphisms on toxicity and outcome of adult patients with hematological malignancies treated with high-dose methotrexate followed by leucovorin rescue. Cancer Chemother Pharmacol. 2012;69(3):691–696. doi:10.1007/s00280-011-1751-4
   PubMed Web of Science ®Google Scholar
• Mahmoud LB, Mdhaffar M, Frikha R, et al. Use of MTHFR C677T polymorphism and plasma pharmacokinetics to predict methotrexate toxicity in patients with acute lymphoblastic leukemia. Adv Clin Exp Med. 2018;27(8):1061–1068. doi:10.17219/acem/69802
   PubMed Web of Science ®Google Scholar
• Choi YJ, Park H, Lee JS, et al. Methotrexate elimination and toxicity: MTHFR 677C>T polymorphism in patients with primary CNS lymphoma treated with high-dose methotrexate. Hematol Oncol. 2017;35(4):504–509. doi:10.1002/hon.2363
   PubMed Web of Science ®Google Scholar
• Hu YH, Zhou L, Wang SS, et al. Methotrexate disposition in pediatric patients with acute lymphoblastic leukemia, what have we learnt from the genetic variants of drug transporters. Curr Pharm Des. 2019;25(6):627–634. doi:10.2174/1381612825666190329141003
   PubMed Web of Science ®Google Scholar