Thiopurine S-Methyltransferase (TPMT) gene polymorphism in Brazilian children with acute lymphoblastic leukemia: Association with clinical and laboratory data

Therapeutic Drug Monitoring

Volumn 30, Issue 6, 2008, Pages 700-704

  Silva, Marcilene Rezende ^a,b   De Oliveira, Benigna Maria ^a   Viana, Marcos Borato ^a   Murao, Mitiko ^a   Romanha, Alvaro José ^a  

^a FEDERAL UNIVERSITY OF MINAS GERAIS   (Brazil)

^b INSTITUTO OSWALDO CRUZ   (Brazil)

Author keywords

6 Mercaptopurine; Acute lymphocytic leukemia; Methyltransferases

Indexed keywords

6 MERCAPTOPURINE DERIVATIVE; 6 TIOGUANINE NUCLEOTIDE; DRUG METABOLITE; METHOTREXATE; METHYLMERCAPTOPURINE; THIOPURINE METHYLTRANSFERASE; UNCLASSIFIED DRUG;

ACUTE LYMPHOBLASTIC LEUKEMIA; ADULT; ARTICLE; BRAZIL; CANCER SURVIVAL; CHILD; CLINICAL FEATURE; CONTROLLED STUDY; DRUG BLOOD LEVEL; DRUG METABOLISM; FEMALE; GENE AMPLIFICATION; GENE FREQUENCY; GENE MUTATION; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENOTYPE; HETEROZYGOTE; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD;

6-MERCAPTOPURINE; ADOLESCENT; ANTIMETABOLITES, ANTINEOPLASTIC; CHILD; CHILD, PRESCHOOL; DOSE-RESPONSE RELATIONSHIP, DRUG; FEMALE; HUMANS; INFANT; MALE; METHYLTRANSFERASES; POLYMORPHISM, GENETIC; PRECURSOR CELL LYMPHOBLASTIC LEUKEMIA-LYMPHOMA;

EID: 57749115022     PISSN: 01634356     EISSN: None     Source Type: Journal    
DOI: 10.1097/FTD.0b013e31818b0f31     Document Type: Article

References (38)

1. Giverhaug T, Loennechen T, Aarbakke J. The interaction of 6-mercaptopurine (6-MP) and methotrexate (MTX). Gen Pharmacol. 1999;33:341-346.
2. Pui CH, Evans WE. Treatment of acute lymphoblastic leukemia. N Engl J Med. 2006;354:166-178.
3. Weinshilboum RM, Sladek SL. Mercaptopurine pharmacogenetics: monogenetic inheritance of erythrocyte thiopurine methyltransferase activity. Am J Hum Genet. 1980;32:651-662.
4. Cheok MH, Evans WE. Acute lymphoblastic leukaemia: a model for the pharmacogenomics of cancer therapy. Nat Rev. 2006;6:117-129.
5. Szumlanski C, Otterness D, Her C, et al. Thiopurine methyltransferase pharmacogenetics: human gene cloning and characterization of a common polymorphism. DNA Cell Biol. 1996;15:17-30.
6. Salavaggione OE, Wang L, Wiepert M, et al. Thiopurine S-methyltransferase pharmacogenetics: variant allele function and comparative genomics. Pharmacogenet Genomics. 2005;15:801-815.
7. Schaeffeler E, Eichelbaum M, Reinisch W, et al. Three novel thiopurine S-methyltransferase allelic variants (TPMT*20. *21. *22). Association with decreased enzyme function. Hum Mutat. 2006;921:1-8.
8. Sasaki T, Goto E, Konno Y. Hiratsuka M, et al. Three novel single nucleotide polymorphism of the human thiopurine S-methyltransferase gene in Japanese individuals. Drug Metab Pharmacokinet. 2006;4:332-336.
9. Eichelbaum M, Sundberg MI, Evans WE. Pharmacogenomics and individualized drug therapy. Annu Rev Med. 2006;57:119-137.
10. Krynetski EY, Schuetz JD, Galpin AJ, et al. A single point leading to loss of catalytic activity in human thiopurine s-methyltransferase. Proc Natl Acad Sci U S A. 1995;92:949-953.
11. Otterness D, Szumlanski C, Lennard L, et al. Human thiopurine methyltransferase pharmacogenetics: gene sequence polymorphisms. Clin Pharmacol Ther. 1997;62:60-73.
12. Yates CR, Krynetski EY, Loennechen T, et al. Molecular diagnosis of thiopurine S-methyltransferase deficiency: genetic basis for azathioprine and mercaptopurine intolerance. Ann Intern Med. 1997;126:608-614.
13. Schaeffeler E, Fischer C, Brockmeier D, et al. Comprehensive analysis of thiopurine S-methyltransferase phenotype-genotype correlation in a large population of German-Caucasians and identification of novel TPMT variants. Pharmacogenetics. 2004;14:407-417.
14. Krynetski EY, Evans WE. Pharmacogenetics as a molecular basis for individualized drug therapy: the thiopurine S-methyltransferase paradigm. Pharmacol Res. 1999;16:342-349.
15. McLeod HL, Krynetski EY, Relling MV, et al. Genetic polymorphism of thiopurine methyltransferase and its clinical relevance for childhood acute lymphoblastic leukemia. Leukemia. 2000;14:567-572.
16. Roberts LR, Barclay ML, Gearry RB, et al. A multiplexed allele-specific polymerase chain reaction assay for the detection of common thiopurine S-methyltransferase (TPMT) mutations. Clin Chim Acta. 2004;341:49-53.
17. Oliveira BM, Romanha AJ, Alves TMA, et al. An improved HPLC method for quantification of 6-mercaptopurine and its metabolites in red blood cells. Braz J Med Biol Res. 2004;37:649-658.
18. Relling MV, Hancock ML, Rivera GK, et al. Mercaptopurine therapy intolerance and heterozygosity at the thiopurine S-methyltransferase gene locus. J Natl Cancer Inst. 1999;91:2001-2008.
19. Relling MV, Hancock ML, Boyett JM, et al. Prognostic importance of 6-mercaptopurine dose intensity in acute lymphoblastic leukemia. Blood. 1999;93:2817-2823.
20. Gilissen LPL, Deryks LJJ, Verhaeven HMJH, et al. Pancytopenia due to high 6-methylmercaptopurine levels in a 6-mercaptopurine treated patient with Crohn's disease. Dig Liver Dis. 2007;39:182-186.
21. Aricó M, Baruchel A, Bertrand Y, et al. The Seventh International Childhood Acute Lymphoblastic Leukemia Workshop Report: Palermo, Italy, January 29-30. Leukemia. 2005;19:1145-1152.
22. Reis M, Santoro A, Suarez-Kurtz G. Thiopurine methyltransferase phenotypes and genotypes in Brazilians. Pharmacogenetics. 2003;13:371-373.
23. Boson WL, Romano-Silva MA, Correa F, et al. Thiopurine methyltranferase polymorphisms in a Brazilian population. Pharmacogenomics J. 2003;3:178-182.
24. McLeod HL, Pritchard SC, Githang J, et al. Ethnic differences in thiopurine methyltransferase pharmacogenetics: evidence for allele specificity in Caucasian and Kenyan individuals. Pharmacogenetics. 1999;9:773-776.
25. Collie-Duguid ESR, Pritchard SC, Powrie RH, et al. The frequency and distribution of thiopurine methyltransferase alleles in Caucasian and Asian populations. Pharmacogenetics. 1999;9:37-42.
26. Hon YY, Fessing MY, Pui CH, et al. Polymorphism of the thiopurine S-methyltransferase gene in African-Americans. Hum Mol Genet. 1999;8:371-376.
27. Zhang JP, Zhou SF, Chen X, et al. Determination of intra-ethnic differences in the polymorphisms of thiopurine S-methyltransferase en Chinese. Clin Chim Acta. 2006;365:337-341.
28. Hiratsuka M, Inoue T, Omori F, et al. Genetic analysis of thiopurine methyltransferase polymorphism in a Japanese population. Mutat Res. 2000;448:91-95.
29. Okada Y, Nakamura K, Kodama T, et al. Thiopurine methyltransferase genotype and phenotype status in Japanese Patients with systemic lupus erythematosus. Biol Pharm Bull. 2005;11:2117-2119.
30. Alves S, Amorim A, Ferreira F, et al. Influence of the variable number of tandem repeats located in the promoter region of the thiopurine methyltransferase gene on enzymatic activity. Clin Pharmacol Ther. 2001;70:165-174.
31. Carvalho-Silva DR, Santos FR, Rocha J, et al. The phylogeography of Brazilian Y-chromosome lineages. Am J Genet. 2001;68:281-286.
32. McLeod HL, Coulthard S, Thomas AE, et al. Analysis of thiopurine methyltransferase variant alleles in childhood acute lymphoblastic leukaemia. Br J Haematol. 1999;105:696-700.
33. Coulthard SA, Howell C, Robson J, et al. The relationship between thiopurine methyltransferase activity and genotype in blasts from patients with acute leukemia. Blood. 1998;92:2856-2862.
34. Hamdan-Khalil R, Gala JL, Allorge D, et al. Identification and functional analysis of two rare allelic variants of the thiopurine S-methyltransferase gene. TPMT*16 and TPMT*19. Biochem Pharmacol. 2005;69:525-529.
35. De la Moureyere CSV, Debuysere H, Mastain B, et al. Genotypic and phenotypic analysis of the thiopurine S-methyltransferase gene (TPMT) in a European population. Br J Pharmacol. 1998;125:879-887.
36. Dokmanovic L, Urosevic J, Janic D, et al. Analysis of thiopurine S-methyltransferase polymorphism in the population of Serbia and Montenegro and mercaptopurine therapy tolerance in childhood acute lymphoblastic leukemia. Ther Drug Monit. 2006;28:800-806.
37. Fakhoury M, Andreu-Gallien J, Mahr A, et al. Should TPMT genotype and activity be used to monitor 6-mercaptopurine treatment in children with acute lymphoblastic leukaemia? J Clin Pharm Ther. 2007;32:633-639.
38. Stanulla M, Schaeffeler E, Flohr T, et al. Thiopurine methyltransferase (TPMT) genotype and early treatment response to mercaptopurine in childhood acute lymphoblastic leukemia. JAMA. 2005;293:1485-1489.