Pharmacogenomics of cisplatin-induced ototoxicity

Pharmacogenomics

Volumn 12, Issue 7, 2011, Pages 1039-1050

  Mukherjea, Debashree ^a   Rybak, Leonard P ^a  

^a SOUTHERN ILLINOIS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

audiometry; cisplatin; COMT; genome wide screening; glutathione; GST; GSTM1; GSTP1; megalin; ototoxicity; pharmacogenomics; SNP; TMPT; XPC

Indexed keywords

CATECHOL METHYLTRANSFERASE; CISPLATIN; ESTROGEN; ETOPOSIDE; GLUTATHIONE; GLUTATHIONE TRANSFERASE; GLUTATHIONE TRANSFERASE M1; GLUTATHIONE TRANSFERASE P1; GLUTATHIONE TRANSFERASE T1; MEGALIN; MITOCHONDRIAL DNA; REACTIVE OXYGEN METABOLITE; THIOPURINE METHYLTRANSFERASE;

ALLELE; AMINO ACID SUBSTITUTION; AUDIOMETRY; BRAIN TUMOR; CATECHOL METHYLTRANSFERASE GENE; COCHLEA; CORTI ORGAN; CYTOTOXICITY; DISEASE SEVERITY; DNA CROSS LINKING; DRUG MEGADOSE; GENE; GENE MUTATION; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GENOTYPE; GERM CELL TUMOR; HAIR CELL; HAPLOTYPE; HEARING LOSS; HIGH FREQUENCY AUDIOMETRIC THRESHOLD; HOMOZYGOTE; HUMAN; KIDNEY PROXIMAL TUBULE; MEDULLOBLASTOMA; MULTIPLE CYCLE TREATMENT; MYELOABLATIVE CONDITIONING; NEPHROTOXICITY; NEUROBLASTOMA; NEUROTOXICITY; NONHUMAN; NUCLEIC ACID BASE SUBSTITUTION; OCT2 GENE; OSTEOSARCOMA; OTOTOXICITY; OXIDATIVE STRESS; PHARMACOGENOMICS; PRESBYACUSIS; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; PURE TONE AUDIOMETRY; REVIEW; SARCOMA; SINGLE NUCLEOTIDE POLYMORPHISM; STRIA VASCULARIS; THIOPURINE METHYLTRANSFERASE GENE; XPC GENE;

ANTINEOPLASTIC AGENTS; CATECHOL O-METHYLTRANSFERASE; CISPLATIN; GENETIC PREDISPOSITION TO DISEASE; GLUTATHIONE TRANSFERASE; HEARING LOSS; HUMANS; LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN-2; METHYLTRANSFERASES; NEOPLASMS; PHARMACOGENETICS; REACTIVE OXYGEN SPECIES;

EID: 79960807006     PISSN: 14622416     EISSN: 17448042     Source Type: Journal    
DOI: 10.2217/pgs.11.48     Document Type: Review

References (79)

1. McKeage MJ. Comparative adverse effect profiles of platinum drugs. Drug Saf. 13, 228-244 (1995).
2. Chen WC, Jackson A, Budnick AS et al. Sensorineural hearing loss in combined modality treatment of nasopharyngeal carcinoma. Cancer 106, 820-829 (2006). (Pubitemid 43238449)
3. Li Y, Womer RB, Silber JH. Predicting cisplatin ototoxicity in children: the influence of age and the cumulative dose. Eur. J. Cancer 40, 2445-2451 (2004). (Pubitemid 39424959)
4. Coradini PP, Cigana L, Selistre SG, Rosito LS, Brunetto AL. Ototoxicity from cisplatin therapy in childhood cancer. J. Pediatr. Hematol. Oncol. 29, 355-360 (2007). (Pubitemid 46884215)
5. Kushner BH, Budnick A, Kramer K, Modak S, Cheung NK. Ototoxicity from high-dose use of platinum compounds in patients with neuroblastoma. Cancer 107, 417-422 (2006). (Pubitemid 44036572)
6. Brock PR, Bellman SC, Yeomans EC, Pinkerton CR, Pritchard J. Cisplatin ototoxicity in children: a practical scoring system. Med. Pediatr. Oncol. 19, 295-300 (1991).
7. Bührer C, Weinel P, Sauter S, Reiter A, Riehm H, Laszig R. Acute onset deafness in a 4-year-old girl after a single infusion of cis-platinum. Pediatr. Hematol. Oncol. 7(2), 145-148 (1990). (Pubitemid 20276761)
8. Bertolini P, Lassalle M, Mercier G et al. Platinum compound-related ototoxicity in children: long-term follow-up reveals continuous worsening of hearing loss. J. Pediatr. Hematol. Oncol. 26, 649-655 (2004). (Pubitemid 39350398)
9. Knight KR, Kraemer DF, Neuwelt EA. Ototoxicity in children receiving platinum chemotherapy: underestimating a commonly occurring toxicity that may influence academic and social development. J. Clin. Oncol. 23, 8588-8596 (2005). (Pubitemid 46211500)
10. Kopelman J, Budnick AS, Sessions RB, Kramer MB, Wong GY. Ototoxicity of high-dose cisplatin by bolus administration in patients with advanced cancer and normal hearing. Laryngoscope 98, 858-864 (1988).
11. Reddel RR, Kefford RF, Grant JM, Coates AS, Fox RM. Ototoxicity in patients receiving cisplatin: importance of dose and method of drug administration. Cancer Treat. Rep. 66, 19-23 (1982). (Pubitemid 12254659)
12. Bokemeyer C, Berger CC, Hartmann JT et al. Analysis of risk factors for cisplatin-induced ototoxicity in patients with testicular cancer. Br. J. Cancer 77, 1355-1362 (1998). (Pubitemid 28140629)
13. Huang E, Teh BS, Strother DR et al. Intensity-modulated radiation therapy for pediatric medulloblastoma: early report on the reduction of ototoxicity. Int. J. Radiat. Oncol. Biol. Phys. 52, 599-605 (2002). (Pubitemid 34158719)
14. Ross CJD, Katzov-Eckert H, Dube MP et al. Genetic variants in TPMT and COMT are associated with hearing loss in children receiving cisplatin therapy. Nat. Genet. 41, 1345-1349 (2009).
15. Rybak LP, Mukherjea D, Jajoo S, Ramkumar V. Cisplatin ototoxicity and protection: clinical and experimental studies. Tohoku J. Exp. Med. 219(3), 177-186 (2009).
16. Mukherjea D, Rybak LP, Sheehan K et al. The design and screening of drugs to prevent acquired sensorineural hearing loss. Expert Opin. Drug Discov. 6(5), 1-15 (2011).
17. May P, Woldt E, Matz RL, Boucher P. The LDL receptor related protein (LRP) family: an old family of proteins with new physiological functions. Ann. Med. 39, 219-228 (2007). (Pubitemid 46676481)
18. Tauris J, Christensen EI, Nykjaer A, Jacobsen C, Petersen CM, Ovesen T. Cubilin and megalin co-localize in the neonatal inner ear. Audiol. Neurootol. 14(4), 267-278 (2009).
19. Mizuta K, Saito A, Watanabe T et al. Ultrastructural localization of megalin in the rat cochlear duct. Hear. Res. 129, 83-91 (1999). (Pubitemid 29111610)
20. Koenig O, Ruettiger L, Mueller M et al. Estrogen and the inner ear: megalin knockout mice suffer progressive hearing loss. FASEB J. 22, 410-417 (2008).
21. Riedemann L, Lanvers C, Deuster D et al. Megalin genetic polymorphisms and individual sensitivity to the ototoxic effect of cisplatin. Pharmacogenomics J. 8(1), 23-28 (2008).
22. Hoban PR, Robson CN, Davies SM, Hall AG, Cattan RA, Hickson ID. Reduced topoisomerase II and elevated a class glutathione S-transferase expression in a multidrug resistant CHO cell line highly cross-resistant to mitomycin C. Biochem. Pharmacol. 43, 685-693 (1992).
23. Hayes JD, Pulford DJ. The glutathione S-transferase supergene family: regulation of GST and the contribution of the isoenzymes to cancer chemoprotection and drug resistance. Crit. Rev. Biochem. Mol. Biol. 30(6), 445-600 (1995).
24. Kasahara M, Matsumura E, Webb G, Board PG, Figueroa F, Klein J. Mapping of class a glutathione S-transferase 2 (GST-2) genes to the vicinity of the d locus on mouse chromosome 9. Genomics 8(1), 90-96 (1990). (Pubitemid 20302280)
25. Meyer DJ, Coles B, Pemble SE, Gilmore KS, Fraser GM, Ketterer B. Theta: a new class of glutathione transferases purified from rat and man. Biochem. J. 274, 409-414 (1991).
26. Pemble S, Schroeder KR, Spencer SR. Human glutathione S-transferase Theta (GSTT1): cDNA cloning and characterization of a genetic polymorphism. Biochem J. 300, 271-276 (1994). (Pubitemid 24151046)
27. Ross VL, Board PG. Molecular cloning and heterologous expression of an alternatively spliced human Mu class glutathione S-transferase transcript. Biochem J. 294(Pt 2), 373-380 (1993). (Pubitemid 23268834)
28. Board PG, Baker RT, Chelvanayagam G, Jermiin LS. Zeta, a novel class of glutathione transferases in a range of species from plants to humans. Biochem. J. 328, 929-935 (1997). (Pubitemid 28005795)
29. Ali-Osman F, Akande O, Antoun G, Mao JX, Buolamwini J. Molecular cloning, Characterization, and expression in Escherichia coli of full-length cDNAs of three human glutathione S-transferase Pi gene variants. Evidence for differential catalytic activity of the encoded proteins. J. Biol. Chem. 272(15), 10004-10012 (1997). (Pubitemid 27171673)
30. Board PG, Coggan M, Chelvanayagam G et al. Identification, characterization, and crystal structure of the Omega class glutathione transferases. J. Biol. Chem. 275(32), 24798-24806 (2000). (Pubitemid 30626584)
31. Terrier P, Townsend AJ, Coindre JM, Triche TJ, Cowan KH. An immunohistochemical study of pi class glutathione S-transferase expression in normal human tissue. Am. J. Pathol. 137(4), 845-853 (1990). (Pubitemid 20337799)
32. Chao CC, Huang YT, Ma CM, Chou WY, Lin-Chao S. Overexpression of glutathione S-transferase and elevation of thiol pools in multidrug-resistant human colon cancer cell line. Mol. Pharmacol. 41, 69-75 (1992).
33. Moscow JA, Fairchild CR, Madden MJ et al. Expression of anionic glutathione S-transferase and P-glycoprotein genes in human tissues and tumors. Cancer Res. 49, 1422-1428 (1989). (Pubitemid 19088676)
34. Tsuchida S, Sato K. Glutathione transferases and cancer. Crit. Rev. Biochem. Mol. Biol. 27, 337-384 (1992).
35. London SJ, Yuan JM, Chung FL, Gao YT, Coetzee GA, Ross RK. Isothiocyanates, glutathione S-transferase M1 and T1 polymorphisms, and lung-cancer risk: a prospective study of men in Shanghai, China. Lancet 356, 724-729 (2000). (Pubitemid 30663242)
36. Stoehlmacher J, Park D, Zhang W et al. Association between glutathione S-transferase P1, T1, and M1 genetic polymorphism and survival of patients with metastatic colorectal cancer. J. Natl Cancer Inst. 94(12), 936-942 (2002). (Pubitemid 34778092)
37. Watson MA, Stewart RK, Smith GB, Massey TE, Bell DA. Human glutathione S-transferase P1 polymorphisms: relationship to lung tissue enzyme activity and population frequency distribution. Carcinogenesis 19, 275-280 (1998). (Pubitemid 28375421)
38. Hengstler JG, Arand M, Herrero ME, Oesch F. Polymorphisms in N-acetyltransferases, glutathione S-transferases, microsomal epoxide hydrolase and sulfotransferases: influence on cancer susceptibility. Recent Results Cancer Res. 154, 47-85 (1998).
39. Ban N, Takahashi Y, Takayama T et al. Transfection of glutathione S-transferase (GST)-pi antisense complementary DNA increases the sensitivity of a colon cancer cell line to adriamycin, cisplatin, melphalan, and etoposide. Cancer Res. 56, 3577-3582 (1996). (Pubitemid 26251655)
40. Goto S, Iida T, Cho S, Oka M, Kohno S, Kondo T. Overexpression of glutathione S-transferase pi enhances the adduct formation of cisplatin with glutathione in human cancer cells. Free Radic. Res. 31, 549-558 (1999).
41. Sadzuka Y, Shimizu Y, Takino Y. Role of glutathione S-transferase isoenzymes in cisplatin-induced nephrotoxicity in the rat. Toxicol. Lett. 70, 211-222 (1994). (Pubitemid 24040834)
42. Board PG. Gene deletion and partial deficiency of the glutathione S-transferase (ligandin) system in man. FEBS Lett. 135(1), 12-14 (1981). (Pubitemid 12174277)
43. DeJong JL, Chang CM, Whang-Peng J, Knutsen T, Tu CP. The human liver glutathione S-transferase gene superfamily: expression and chromosome mapping of an Hb subunit cDNA. Nucleic Acids Res. 16, 8541-8554 (1988).
44. Seidegård J, Pero RW. The hereditary transmission of high glutathione transferase activity towards trans-stilbene oxide in human mononuclear leukocytes. Hum. Genet. 69, 66-68 (1985). (Pubitemid 15153915)
45. Widersten M, Pearson WR, Engström A, Mannervik B. Heterologous expression of the allelic variant m-class glutathione transferases m and y. Biochem. J. 276, 519-524 (1991).
46. Seidegård J, Vorachek WR, Pero RW, Pearson WR. Hereditary differences in the xpression of the human glutathione transferase active on trans-stilbene oxide are due to a gene deletion. Proc. Natl Acad. Sci. USA 85, 7293-7297 (1988).
47. McLellan RA, Oscarson M, Alexandrie AK et al. Characterization of a human glutathione S-transferase mu cluster containing a duplicated GSTM1 gene that causes ultrarapid enzyme activity. Mol. Pharmacol. 52(6), 958-965 (1997). (Pubitemid 28013713)
48. Board P, Coggan M, Johnston P, Ross V, Suzuki T, Webb G. Genetic heterogeneity of the human glutathione transferases: a complex of gene families. Pharmacol. Ther. 48, 357-369 (1990).
49. Garte S, Gaspari L, Alexandrie AK et al. Metabolic gene polymorphism frequencies in control populations. Cancer Epidemiol. Biomarkers Prev. 10(12), 1239-1248 (2001). (Pubitemid 34027754)
50. Arand M, Muhlbauer R, Hengstler J et al. A multiplex polymerase chain reaction protocol for the simultaneous analysis of the glutathione S-transferase GSTM1 and GSTT1 polymorphisms. Anal. Biochem. 236(1), 184-186 (1996). (Pubitemid 26100747)
51. Barahmani N, Carpentieri S, Li XN et al. Glutathione S-transferase M1 and T1 polymorphisms may predict adverse effects after therapy in children with medulloblastoma. Neuro. Oncol. 11(3), 292-300 (2009).
52. Zhao Y, Marotta M, Eichler EE, Eng C, Tanaka H. Linkage disequilibrium between two high-frequency deletion polymorphisms: implications for association studies involving the glutathione S-transferase (GST) genes. PLoS Genet. 5(5), e1000472 (2009).
53. Oldenburg J, Kraggerud SM, Cvancarova M, Lothe RA, Fossa SD. Cisplatin-induced long-term hearing impairment is associated with specific glutathione S-transferase genotypes in testicular cancer survivors. J. Clin. Oncol. 25(6), 708-714 (2007). (Pubitemid 350002927)
54. Nakagawa K, Yokota J, Wada M et al. Levels of glutathione S-transferase pi mRNA in human lung cancer cell lines correlate with the resistance to cisplatin and carboplatin. Jpn J. Cancer Res. 79(3), 301-304 (1988).
55. Puchalski RB, Fahl WE. Expression of recombinant glutathione S-transferase pi, Ya, or Yb1 confers resistance to alkylating agents. Proc. Natl Acad. Sci. USA 87(7), 2443-2447 (1990).
56. Green JA, Robertson LJ, Clark AH. Glutathione S-transferase expression in benign and malignant ovarian tumours. Br. J. Cancer 68(2), 235-239 (1993). (Pubitemid 23229418)
57. el Barbary A, Altschuler RA, Schacht J. Glutathione S-transferases in the organ of corti of the rat: enzymatic activity, subunit composition and immunohistochemical localization. Hear Res. 71, 80-90 (1993). (Pubitemid 24029854)
58. Touliatos JS, Neitzel L, Whitworth C, Rybak LP, Malafa M. Effect of cisplatin on the expression of glutathione-S-transferase in the cochlea of the rat. Eur. Arch. Otorhinolaryngol. 257(1), 6-9 (2000). (Pubitemid 30160513)
59. Fujimura T, Suzuki H, Udaka T et al. Immunoreactivities for glutathione S-transferases and glutathione peroxidase in the lateral wall of pigmented and albino guinea pig cochlea. Med. Mol. Morphol. 41(3), 139-144 (2008).
60. Peters U, Preisler-Adams S, Hebeisen A et al. Glutathione S-transferase genetic polymorphisms and individual sensitivity to the ototoxic effect of cisplatin. Anticancer Drugs 11(8), 639-643 (2000).
61. Engdahl B, Tambs K, Borchgrevink HM, Hoffman HJ. Screened and unscreened hearing threshold levels for the adult population: results from the Nord-Trøndelag hearing loss study. Int. J. Audiol. 44(4), 213-230 (2005). (Pubitemid 40896706)
62. Adler V, Yin ZM, Fuchs SY et al. Regulation of JNK signaling by GSTp. EMBO J. 18, 1321-1334 (1999). (Pubitemid 29110316)
63. Oldenburg J, Fosså SD, Ikdahl T. Genetic variants associated with cisplatin-induced ototoxicity. Pharmacogenomics 9(10), 1521-1530 (2008).
64. Oldenburg J, Kraggerud SM, Brydøy M, Cvancarova M, Lothe RA, Fossa SD. Association between long-term neuro-toxicities in testicular cancer survivors and polymorphisms in glutathione-S-transferase-P1 and-M1, a retrospective cross sectional study. J. Transl. Med. 5, 70 (2007).
65. Pussegoda K. Genetic variants associated with cisplatin-induced hearing loss. Clin. Genet. 78, 33-35 (2010).
66. Ochoa B, Bobadilla N, Arrelin G et al. S-adenosyl-L-mehtionine increases serum BUN and creatinine in cisplatin-treated mice. Arch. Med. Res. 40, 54-58 (2009).
67. Ahmed ZM, Masmoudi S, Kalay E et al. Mutations of LRTOMT, a fusion gene with alternative reading frames, causes nonsyndromic deafness in humans. Nat. Genet. 40, 1335-1340 (2008).
68. Du X, Schwander M, Moresco EM et al. A catechol-0-methyltransferase that is essential for auditory function in mice and humans. Proc. Natl Acad. Sci. USA 105, 14609-14614 (2008).
69. Duman D, Sirmaci A, Cengiz FB, Ozdag H, Tekin M. Screening of 38 genes identifies mutations in 62% of families with nonsyndromic deafness in Turkey. Genet. Test Mol. Biomarkers 15(1-2), 29-33 (2011).
70. Peters U, Preisler-Adams S, Lanvers-Kaminsky C, Jürgens H, Lamprecht-Dinnesen A. Sequence variations of mitochondrial DNA and individual sensitivity to the ototoxic effect of cisplatin. Anticancer Res. 23(2B), 1249-1255 (2003). (Pubitemid 36754084)
71. Knoll C, Smith RJ, Shores C, Blatt J. Hearing genes and cisplatin deafness: a pilot study. Laryngoscope 116(1), 72-74 (2006). (Pubitemid 44383965)
72. Caronia D, Patiño-García A, Milne RL et al. Common variations in ERCC2 are associated with response to cisplatin chemotherapy and clinical outcome in osteosarcoma patients. Pharmacogenomics J. 9(5), 347-353 (2009).
73. Filipski KK, Mathijssen RH, Mikkelsen TS, Schinkel AH, Sparreboom A. Contribution of organic cation transporter 2 (OCT2) to cisplatin-induced nephrotoxicity. Clin. Pharmacol. Ther. 86, 396-402 (2009).
74. Ciarimboli G, Deuster D, Knief A et al. Organic cation transporter 2 mediates cisplatin-induced oto-and nephrotoxicity and is a target for protective interventions. Am. J. Pathol. 176(3), 1169-1180 (2010).
75. Hartford CM, Dolan ME. Identifying genetic variants that contribute to chemotherapy-induced cytotoxicity. Pharmacogenomics 8(9), 1159-1168 (2007). (Pubitemid 47578225)
76. Dolan ME, Newbold KG, Nagasubramanian R et al. Heritability and linkage analysis of sensitivity to cisplatin-induced cytotoxicity. Cancer Res. 64(12), 353-4356 (2004).
77. Huang RS, Duan S, Shukla SJ et al. Identification of genetic variants contributing to cisplatin-induced cytotoxicity by use of a genomewide approach. Am. J. Hum. Genet. 81(3), 427-437 (2007). (Pubitemid 47330203)
78. Shukla SJ, Duan S, Badner JA, Wu X, Dolan ME. Susceptibility loci involved in cisplatin-induced cytotoxicity and apoptosis. Pharmacogenet. Genomics 18(3), 253-262 (2008). (Pubitemid 351323240)
79. Subramanian A, Kuehn H, Gould J, Tamayo P, Mesirov JP. GSEA-P: a desktop application for gene set enrichment analysis. Bioinformatics 23(23), 3251-3253 (2007). (Pubitemid 350187532)