The effects of genetic polymorphism on toxicity and pharmacokinetics of methotrexate in Egyptian adult patients with leukaemia or lymphoma

References

• Bouquié R, Grégoire M, Hernando H, Azoulay C, Dailly E, Monteil-Ganière C, Pineau A, Deslandes G, Jolliet P. 2016. Evaluation of a methotrexate chemiluminescent microparticle ımmunoassay: comparison to fluorescence polarization ımmunoassay and liquid chromatography–tandem mass spectrometry. Am J Clin Pathol. 146(1):119–124. doi: 10.1093/ajcp/aqw088.
   PubMed Web of Science ®Google Scholar
• Chaabane S, Marzouk S, Akrout R, Ben Hamad M, Achour Y, Rebai A, Keskes L, Fourati H, Bahloul Z, Maalej A. 2016. Genetic determinants of methotrexate toxicity in Tunisian patients with rheumatoid arthritis: a study of polymorphisms ınvolved in the MTX metabolic pathway. Eur J Drug Metab Pharmacokinet. 41(4):385–393. doi: 10.1007/s13318-015-0288-z.
   PubMed Web of Science ®Google Scholar
• Chave KJ, Ryan TJ, Chmura SE, Galivan J. 2003. Identification of single nucleotide polymorphisms in the human gamma-glutamyl hydrolase gene and characterization of promoter polymorphisms. Gene. 319:167–175. doi: 10.1016/s0378-1119(03)00807-2.
   PubMed Web of Science ®Google Scholar
• Dervieux T, Kremer J, Lein DO, Capps R, Barham R, Meyer G, Smith K, Caldwell J, Furst DE. 2004. Contribution of common polymorphisms in reduced folate carrier and gamma-glutamylhydrolase to methotrexate polyglutamate levels in patients with rheumatoid arthritis. Pharmacogenetics. 14(11):733–739. doi: 10.1097/00008571-200411000-00004.
   PubMedGoogle Scholar
• DeSantis CE, Lin CC, Mariotto AB, Siegel RL, Stein KD, Kramer JL, Alteri R, Robbins AS, Jemal A. 2014. Cancer treatment and survivorship statistics, 2014. CA Cancer J Clin. 64(4):252–271. doi: 10.3322/caac.21235.
   PubMed Web of Science ®Google Scholar
• Ebid A-H, Hossam A, El Gammal MM, Soror S, Mangoud NOM, Mahmoud MA. 2022. High dose methotrexate in adult Egyptian patients with hematological malignancies: impact of ABCB1 3435C > T rs1045642 and MTHFR 677C > T rs1801133 polymorphisms on toxicities and delayed elimination. J Chemother. 34(6):381–390. doi: 10.1080/1120009X.2021.2009723.
   PubMed Web of Science ®Google Scholar
• Eissa DS, Ahmed TM. 2013. C677T and A1298C polymorphisms of the methylenetetrahydrofolate reductase gene: effect on methotrexate-related toxicity in adult acute lymphoblastic leukaemia. Blood Coagul Fibrinolysis. 24(2):181–188. doi: 10.1097/MBC.0b013e32835b249d.
   PubMed Web of Science ®Google Scholar
• El-Khodary NM, El-Haggar SM, Eid MA, Ebeid EN. 2012. Study of the pharmacokinetic and pharmacogenetic contribution to the toxicity of high-dose methotrexate in children with acute lymphoblastic leukemia. Med Oncol. 29(3):2053–2062. doi: 10.1007/s12032-011-9997-6.
   PubMed Web of Science ®Google Scholar
• Etlik O, Koksal V, Arican-Baris ST, Baris I. 2011. Development and validation of a cost-effective in-house method, tetra-primer ARMS PCR assay, in genotyping of seven clinically important point mutations. Mol Cell Probes. 25(4):177–181. doi: 10.1016/j.mcp.2011.04.005.
   PubMed Web of Science ®Google Scholar
• Faganel Kotnik B, Grabnar I, Bohanec Grabar P, Dolžan V, Jazbec J. 2011. Association of genetic polymorphism in the folate metabolic pathway with methotrexate pharmacokinetics and toxicity in childhood acute lymphoblastic leukaemia and malignant lymphoma. Eur J Clin Pharmacol. 67(10):993–1006. doi: 10.1007/s00228-011-1046-z.
   PubMed Web of Science ®Google Scholar
• Gemmati D, Ongaro A, Tognazzo S, Catozzi L, Federici F, Mauro E, Della Porta M, Campioni D, Bardi A, Gilli G, et al. 2007. Methylenetetrahydrofolate reductase C677T and A1298C gene variants in adult non-Hodgkin’s lymphoma patients: association with toxicity and survival. Haematologica. 92(4):478–485. doi: 10.3324/haematol.10587.
   PubMed Web of Science ®Google Scholar
• Gervasini G, de Murillo SG, Jiménez M, de la Maya MD, Vagace JM. 2017. Dihydrofolate reductase genetic polymorphisms affect methotrexate dose requirements in pediatric patients with acute lymphoblastic leukemia on maintenance therapy. J Pediatr Hematol Oncol. 39(8):589–595. doi: 10.1097/MPH.0000000000000908.
   PubMed Web of Science ®Google Scholar
• Ghodke-Puranik Y, Puranik AS, Shintre P, Joshi K, Patwardhan B, Lamba J, Niewold TB, Chopra A. 2015. Folate metabolic pathway single nucleotide polymorphisms: a predictive pharmacogenetic marker of methotrexate response in Indian (Asian) patients with rheumatoid arthritis. Pharmacogenomics. 16(18):2019–2034. doi: 10.2217/pgs.15.145.
   PubMed Web of Science ®Google Scholar
• Giletti A, Vital M, Lorenzo M, Cardozo P, Borelli G, Gabus R, Martínez L, Díaz L, Assar R, Rodriguez MN, et al. 2017. Methotrexate pharmacogenetics in Uruguayan adults with hematological malignant diseases. Eur J Pharm Sci. 109:480–485. doi: 10.1016/j.ejps.2017.09.006.
   PubMed Web of Science ®Google Scholar
• Johnson WG, Stenroos ES, Spychala JR, Chatkupt S, Ming SX, Buyske S. 2004. New 19 bp deletion polymorphism in intron-1 of dihydrofolate reductase (DHFR): a risk factor for spina bifida acting in mothers during pregnancy? Am J Med Genet A. 124A(4):339–345. doi: 10.1002/ajmg.a.20505.
   PubMed Web of Science ®Google Scholar
• Jokić M, Brčić-Kostić K, Stefulj J, Catela Ivković T, Božo L, Gamulin M, Kapitanović S. 2011. Association of MTHFR, MTR, MTRR, RFC1, and DHFR gene polymorphisms with susceptibility to sporadic colon cancer. DNA Cell Biol. 30(10):771–776. doi: 10.1089/dna.2010.1189.
   PubMed Web of Science ®Google Scholar
• Kantar M, Kosova B, Cetingul N, Gumus S, Toroslu E, Zafer N, Topcuoglu N, Aksoylar S, Cinar M, Tetik A, et al. 2009. Methylenetetrahydrofolate reductase C677T and A1298C gene polymorphisms and therapy-related toxicity in children treated for acute lymphoblastic leukemia and non-Hodgkin lymphoma. Leuk Lymphoma. 50(6):912–917. doi: 10.1080/10428190902893819.
   PubMed Web of Science ®Google Scholar
• Kantarjian HM, O’Brien S, Smith TL, Cortes J, Giles FJ, Beran M, Pierce S, Huh Y, Andreeff M, Koller C, et al. 2000. Results of treatment with hyper-CVAD, a dose-intensive regimen, in adult acute lymphocytic leukemia. J Clin Oncol. 18(3):547–561. doi: 10.1200/JCO.2000.18.3.547.
   PubMed Web of Science ®Google Scholar
• Kavle JA, Flax VL, Abdelmegeid A, Salah F, Hafez S, Ramzy M, Hamed D, Saleh G, Galloway R. 2015. Factors associated with early growth in Egyptian infants: implications for addressing the dual burden of malnutrition. Matern Child Nutr. 12(1):139–151. doi: 10.1111/mcn.12213.
   PubMed Web of Science ®Google Scholar
• Khouri IF, Romaguera J, Kantarjian H, Palmer JL, Pugh WC, Korbling M, Hagemeister F, Samuels B, Rodriguez A, Giralt S, et al. 1998. Hyper-CVAD and high-dose methotrexate/cytarabine followed by stem-cell transplantation: an active regimen for aggressive mantle-cell lymphoma. J Clin Oncol. 16(12):3803–3809. doi: 10.1200/JCO.1998.16.12.3803.
   PubMed Web of Science ®Google Scholar
• Kim S-E. 2020. Enzymes involved in folate metabolism and its implication for cancer treatment. Nutr Res Pract. 14(2):95–101. doi: 10.4162/nrp.2020.14.2.95.
   PubMed Web of Science ®Google Scholar
• Koomdee N, Hongeng S, Apibal S, Pakakasama S. 2012. Association between polymorphisms of dihydrofolate reductase and gamma glutamyl hydrolase genes and toxicity of high dose methotrexate in children with acute lymphoblastic leukemia. Asian Pac J Cancer Prev. 13(7):3461–3464. doi: 10.7314/apjcp.2012.13.7.3461.
   PubMedGoogle Scholar
• Lazic J, Kotur N, Krstovski N, Dokmanovic L, Zukic B, Predojevic-Samardzic J, Zivotic M, Milosevic G, Djoric M, Janic D, et al. 2017. Importance of pharmacogenetic markers in the methylenetetrahydrofolate reductase gene during methotrexate treatment in pediatric patients with acute lymphoblastic leukemia. Arch Biol Sci. 69(2):239–246. doi: 10.2298/ABS160325091L.
   Google Scholar
• Li WW, Waltham M, Tong W, Schweitzer BI, Bertino JR. 1993. Increased activity of gamma-glutamyl hydrolase in human sarcoma cell lines: a novel mechanism of intrinsic resistance to methotrexate (MTX). Adv Exp Med Biol. 338:635–638. doi: 10.1007/978-1-4615-2960-6_131.
   PubMedGoogle Scholar
• Lin X, Wang J, Huang X, Wang H, Li F, Ye W, Huang S, Pan J, Ling Q, Wei W, et al. 2021. Global, regional, and national burdens of leukemia from 1990 to 2017: a systematic analysis of the global burden of disease 2017 study. Aging. 13(7):10468–10489. doi: 10.18632/aging.202809.
   PubMedGoogle Scholar
• Lopez-Lopez E, Martin-Guerrero I, Ballesteros J, Piñan MA, Garcia-Miguel P, Navajas A, Garcia-Orad A. 2011. Polymorphisms of the SLCO1B1 gene predict methotrexate-related toxicity in childhood acute lymphoblastic leukemia. Pediatr Blood Cancer. 57(4):612–619. doi: 10.1002/pbc.23074.
   PubMed Web of Science ®Google Scholar
• Mahmoud LB, Mdhaffar M, Frikha R, Ghozzi H, Hakim A, Sahnoun Z, Elloumi M, Zeghal K. 2018. Use of MTHFR C677T polymorphism and plasma pharmacokinetics to predict methotrexate toxicity in patients with acute lymphoblastic leukemia. Adv Clin Exp Med. 27(8):1061–1068. doi: 10.17219/acem/69802.
   PubMed Web of Science ®Google Scholar
• Matthews RG, Sheppard C, Goulding C. 1998. Methylenetetrahydrofolate reductase and methionine synthase: biochemistry and molecular biology. Eur J Pediatr. 157 Suppl 2: s 54–59. doi: 10.1007/pl00014305.
   Web of Science ®Google Scholar
• Ongaro A, De Mattei M, Della Porta MG, Rigolin G, Ambrosio C, Di Raimondo F, Pellati A, Masieri FF, Caruso A, Catozzi L, et al. 2009. Gene polymorphisms in folate metabolizing enzymes in adult acute lymphoblastic leukemia: effects on methotrexate-related toxicity and survival. Haematologica. 94(10):1391–1398. doi: 10.3324/haematol.2009.008326.
   PubMed Web of Science ®Google Scholar
• Patiño-García A, Zalacaín M, Marrodán L, San-Julián M, Sierrasesúmaga L. 2009. Methotrexate in pediatric osteosarcoma: response and toxicity in relation to genetic polymorphisms and dihydrofolate reductase and reduced folate carrier 1 expression. J Pediatr. 154(5):688–693. doi: 10.1016/j.jpeds.2008.11.030.
   PubMed Web of Science ®Google Scholar
• Rickham PP. 1964. Human experımentatıon. code of ethıcs of the world medıcal assocıatıon. declaratıon of Helsınkı. Br Med J. 2(5402):177. doi: 10.1136/bmj.2.5402.177.
   PubMed Web of Science ®Google Scholar
• Salazar J, Altés A, del Río E, Estella J, Rives S, Tasso M, Navajas A, Molina J, Villa M, Vivanco JL, et al. 2012. Methotrexate consolidation treatment according to pharmacogenetics of MTHFR ameliorates event-free survival in childhood acute lymphoblastic leukaemia. Pharmacogenomics J. 12(5):379–385. doi: 10.1038/tpj.2011.25.
   PubMed Web of Science ®Google Scholar
• Shenoy R, Panda G, Bonda VNA, Sengar M, Thorat J, Jain H. 2022. Feasibility of delivering high-dose methotrexate in adolescent and adult all patients: a retrospective study. Indian J Hematol Blood Transfus. 38(4):638–642. doi: 10.1007/s12288-021-01502-0.
   PubMed Web of Science ®Google Scholar
• Shimasaki N, Mori T, Samejima H, Sato R, Shimada H, Yahagi N, Torii C, Yoshihara H, Tanigawara Y, Takahashi T, et al. 2006. Effects of methylenetetrahydrofolate reductase and reduced folate carrier 1 polymorphisms on high-dose methotrexate-induced toxicities in children with acute lymphoblastic leukemia or lymphoma. J Pediatr Hematol Oncol. 28(2):64–68. doi: 10.1097/01.mph.0000198269.61948.90.
   PubMed Web of Science ®Google Scholar
• Siegel RL, Miller KD, Wagle NS, Jemal A. 2023. Cancer statistics, 2023. CA Cancer J Clin. 73(1):17–48. doi: 10.3322/caac.21763.
   PubMed Web of Science ®Google Scholar
• Swerdlow SH, Campo E, Pileri SA, Harris NL, Stein H, Siebert R, Advani R, Ghielmini M, Salles GA, Zelenetz AD, et al. 2016. The 2016 revision of the World Health Organization classification of lymphoid neoplasms. Blood. 127(20):2375–2390. doi: 10.1182/blood-2016-01-643569.
   PubMed Web of Science ®Google Scholar
• Świerkot J, Ślęzak R, Karpiński P, Pawłowska J, Noga L, Szechiński J, Wiland P. 2015. Associations between single-nucleotide polymorphisms of RFC-1, GGH, MTHFR, TYMS, and TCII genes and the efficacy and toxicity of methotrexate treatment in patients with rheumatoid arthritis. Pol Arch Med Wewn. 125(3):152–161. doi: 10.20452/pamw.2707.
   PubMed Web of Science ®Google Scholar
• Tantawy AAG, El-Bostany EA, Adly AAM, Abou El Asrar M, El-Ghouroury EA, Abdulghaffar EE. 2010. Methylene tetrahydrofolate reductase gene polymorphism in Egyptian children with acute lymphoblastic leukemia. Blood Coagul Fibrinolysis. 21(1):28–34. doi: 10.1097/MBC.0b013e32833135e9.
   PubMed Web of Science ®Google Scholar
• Taylor ZL, Vang J, Lopez-Lopez E, Oosterom N, Mikkelsen T, Ramsey LB. 2021. Systematic review of pharmacogenetic factors that ınfluence high-dose methotrexate pharmacokinetics in pediatric malignancies. Cancers. 13(11):2837. doi: 10.3390/cancers13112837.
   PubMed Web of Science ®Google Scholar
• Thandra KC, Barsouk A, Saginala K, Padala SA, Barsouk A, Rawla P. 2021. Epidemiology of non-Hodgkin’s lymphoma. Med Sci. 9(1):5. doi: 10.3390/medsci9010005.
   Google Scholar
• Trotti A, Colevas AD, Setser A, Rusch V, Jaques D, Budach V, Langer C, Murphy B, Cumberlin R, Coleman CN, et al. 2003. CTCAE v3.0: development of a comprehensive grading system for the adverse effects of cancer treatment. Semin Radiat Oncol. 13(3):176–181. doi: 10.1016/S1053-4296(03)00031-6.
   PubMed Web of Science ®Google Scholar
• Tsurusawa M, Mori T, Kikuchi A, Mitsui T, Sunami S, Kobayashi R, Takimoto T, Saito A, Watanabe T, Fujimoto J, et al. 2014. Improved treatment results of children with B-cell non-Hodgkin lymphoma: a report from the Japanese pediatric leukemia/lymphoma study group B-NHL03 study. Pediatr Blood Cancer. 61(7):1215–1221. doi: 10.1002/pbc.24975.
   PubMed Web of Science ®Google Scholar
• Wang S, Sun L, Zeng W, Wu W, Zhang G. 2014. Influence of genetic polymorphisms of FPGS, GGH, and MTHFR on serum methotrexate levels in Chinese children with acute lymphoblastic leukemia. Cancer Chemother Pharmacol. 74(2):283–289. doi: 10.1007/s00280-014-2507-8.
   PubMed Web of Science ®Google Scholar
• Wang S-M, Li M, Wu W-S, Sun L-L, Yan D. 2019. The role of transcription factor Sp1 in the regulation of gamma-glutamyl hydrolase gene expression by the rs3758149 polymorphism in CEM/C1 cells. Pharmazie. 74(11):671–674. doi: 10.1691/ph.2019.9689.
   PubMed Web of Science ®Google Scholar
• Xu M, Wu S, Wang Y, Zhao Y, Wang X, Wei C, Liu X, Hao F, Hu C. 2022. Association between high-dose methotrexate-induced toxicity and polymorphisms within methotrexate pathway genes in acute lymphoblastic leukemia. Front Pharmacol. 13:1003812. doi: 10.3389/fphar.2022.1003812.
   PubMed Web of Science ®Google Scholar
• Xu X, Gammon MD, Wetmur JG, Rao M, Gaudet MM, Teitelbaum SL, Britton JA, Neugut AI, Santella RM, Chen J. 2007. A functional 19-base pair deletion polymorphism of dihydrofolate reductase (DHFR) and risk of breast cancer in multivitamin users2. Am J Clin Nutr. 85(4):1098–1102. doi: 10.1093/ajcn/85.4.1098.
   PubMed Web of Science ®Google Scholar
• Yang L, Wu H, de Winter BCM, Sheng C-C, Qiu H-Q, Cheng Y, Chen J, Zhao Q-L, Huang J, Jiao Z, et al. 2020. Pharmacokinetics and pharmacogenetics of high-dose methotrexate in Chinese adult patients with non-Hodgkin lymphoma: a population analysis. Cancer Chemother Pharmacol. 85(5):881–897. doi: 10.1007/s00280-020-04058-4.
   PubMed Web of Science ®Google Scholar
• Yousef A-M, Farhad R, Alshamaseen D, Alsheikh A, Zawiah M, Kadi T. 2019. Folate pathway genetic polymorphisms modulate methotrexate-induced toxicity in childhood acute lymphoblastic leukemia. Cancer Chemother Pharmacol. 83(4):755–762. doi: 10.1007/s00280-019-03776-8.
   PubMed Web of Science ®Google Scholar