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Review

Thiopurine S-methyltransferase polymorphisms in acute lymphoblastic leukemia, inflammatory bowel disease and autoimmune disorders: influence on treatment response

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Pages 143-156 | Published online: 05 May 2017

References

  • HiggsJEPayneKRobertsCNewmanWGAre patients with intermediate TPMT activity at increased risk of myelosuppression when taking thiopurine medications?Pharmacogenomics201011217718820136357
  • DongXWZhengQZhuMMTongJLRanZHThiopurine S-methyltransferase polymorphisms and thiopurine toxicity in treatment of inflammatory bowel diseaseWorld J Gastroenterol201016253187319520593505
  • KoturNDokmanovicLJanicDTPMT gene expression is increased during maintenance therapy in childhood acute lymphoblastic leukemia patients in a TPMT gene promoter variable number of tandem repeat-dependent mannerPharmacogenomics201516151701171226411491
  • ChouchanaLNarjozCBeaunePLoriotMARoblinXReview article: the benefits of pharmacogenetics for improving thiopurine therapy in inflammatory bowel diseaseAliment Pharmacol Ther2012351153622050052
  • GisbertJPGomollonFThiopurine-induced myelotoxicity in patients with inflammatory bowel disease: a reviewAm J Gastroenterol200810371783180018557712
  • FraserAGOrchardTRJewellDPThe efficacy of azathioprine for the treatment of inflammatory bowel disease: a 30 year reviewGut200250448548911889067
  • LennardLThe clinical pharmacology of 6-mercaptopurineEur J Clin Pharmacol19924343293391451710
  • LennardLTPMT in the treatment of Crohn’s disease with azathioprineGut200251214314612117866
  • ChouchanaLNarjozCRocheDInterindividual variability in TPMT enzyme activity: 10 years of experience with thiopurinepharmacogenetics and therapeutic drug monitoringPharmacogenomics201415674575724897283
  • RellingMVHancockMLRiveraGKMercaptopurine therapy intolerance and heterozygosity at the thiopurine S-methyltransferase gene locusJ Natl Cancer Inst199991232001200810580024
  • LennardLImplementation of TPMT testingBr J Clin Pharmacol201477470471423962279
  • WangLPelleymounterLWeinshilboumRVery important pharmacogene summary: thiopurine S-methyltransferasePharmacogenet Genomics201020640140520154640
  • VoraAMitchellCDLennardLToxicity and efficacy of 6-thioguanine vs. 6-mercaptopurine in childhood lymphoblastic leukaemia: a randomised trialLancet200636895441339134817046466
  • LiuYPXuHQLiMAssociation between thiopurine S-methyl-transferase polymorphisms and azathioprine-induced adverse drug reactions in patients with autoimmune diseases: a meta-analysisPLoS One20151012e014423426633017
  • KimHYLeeSHLeeMNComplete sequence-based screening of TPMT variants in the Korean populationPharmacogenet Genomics201525314314625564374
  • NewmanWGPayneKTrickerKA pragmatic randomized controlled trial of thiopurinemethyltransferase genotyping prior to azathioprine treatment: the TARGET studyPharmacogenomics201112681582621692613
  • EvansWEHornerMChuYQKalwinskyDRobertsWMAltered mercaptopurine metabolism, toxic effects, and dosage requirement in a thiopurinemethyltransferase-deficient child with acute lymphocytic leukemiaJ Pediatr199111969859891960624
  • YatesCRKrynetskiEYLoennechenTMolecular diagnosis of thiopurine S-methyltransferase deficiency: genetic basis for azathioprine and mercaptopurine intoleranceAnn Intern Med199712686086149103127
  • EvansWEHonYYBomgaarsLPreponderance of thiopurine S-methyltransferase deficiency and heterozygosity among patients intolerant to mercaptopurine or azathioprineJ Clin Oncol20011982293230111304783
  • Karas-KuzelickiNJazbecJMilekMMlinaric-RascanIHeterozy-gosity at the TPMT gene locus, augmented by mutated MTHFR gene, predisposes to 6-MP related toxicities in childhood ALL patientsLeukemia200923597197418987660
  • Peregud-PogorzelskiJTetera-RudnickaEKurzawskiMThiopurine S-methyltransferase (TPMT) polymorphisms in children with acute lymphoblastic leukemia, and the need for reduction or cessation of 6-mercaptopurine doses during maintenance therapy: the Polish multicenter analysisPediatr Blood Cancer201157457858221319286
  • CoenenMJde JongDJvan MarrewijkCJIdentification of patients with variants in TPMT and dose reduction reduces hematologic events during thiopurinetreatment of inflammatory bowel diseaseGastroenterology20151494907917.e726072396
  • RellingMVHancockMLBoyettJMPuiCHEvansWEPrognostic importance of 6-mercaptopurine dose intensity in acute lymphoblastic leukemiaBlood19999392817282310216075
  • ColombelJFFerrariNDebuysereHGenotypic analysis of thiopurine S-methyltransferase in patients with Crohn’s disease and severe myelosuppression during azathioprine therapyGastroenterology200011861025103010833476
  • StoccoGCheokMHCrewsKRGenetic polymorphism of inosine triphosphate pyrophosphatase is a determinant of mercaptopurine metabolism and toxicity during treatment for acute lymphoblastic leukemiaClin Pharmacol Ther200985216417218685564
  • MoriyamaTNishiiRPerez-AndreuVNUDT15 polymorphisms alterthiopurine metabolism and hematopoietic toxicityNat Genet201648436737326878724
  • DubinskyMCYangHHassardPV6-MP metabolite profiles provide a biochemical explanation for 6-MP resistance in patients with inflammatory bowel diseaseGastroenterology2002122490491511910342
  • AnsariAHassanCDuleyJThiopurinemethyltransferase activity and the use of azathioprine in inflammatory bowel diseaseAliment Pharmacol Ther200216101743175012269967
  • WinterJWalkerAShapiroDGaffneyDSpoonerRJMillsPRCost-effectiveness of thiopurinemethyltransferase genotype screening in patients about to commence azathioprine therapy for treatment of inflammatory bowel diseaseAliment Pharmacol Ther200420659359915352906
  • AppellMLBergJDuleyJNomenclature for alleles of the thiopurinemethyltransferase genePharmacogenet Genomics201323424224823407052
  • Collie-DuguidESPritchardSCPowrieRHThe frequency and distribution of thiopurinemethyltransferase alleles in Caucasian and Asian populationsPharmacogenetics199991374210208641
  • KataraPKuntalHTPMT polymorphism: when shield becomes weaknessInterdiscip Sci20168215015526297310
  • LennardLCartwrightCSWadeRVoraAThiopurinemethyltransferase and treatment outcome in the UK acute lymphoblastic leukaemia trial ALL2003Br J Haematol2015170455055825940902
  • WinterJWGaffneyDShapiroDAssessment of thiopurinemethyltransferase enzyme activity is superior to genotype in predicting myelosuppression following azathioprine therapy in patients with inflammatory bowel diseaseAliment Pharmacol Ther20072591069107717439508
  • HindorfUAppellMLGenotyping should be considered the primary choice for pre-treatment evaluation of thiopurinemethyltransferase functionJ Crohns Colitis20126665565922398041
  • SchmiegelowKForestierEKristinssonJThiopurinemethyltransferase activity is related to the risk of relapse of childhood acute lymphoblastic leukemia: results from the NOPHO ALL-92 studyLeukemia200923355756418987654
  • SchaeffelerEFischerCBrockmeierDComprehensive analysis of thiopurine S-methyltransferase phenotype-genotype correlation in a large population of German-Caucasians and identification of novel TPMT variantsPharmacogenetics200414740741715226673
  • SchmiegelowKAl-ModhwahiIAndersenMKMethotrexate/6-mercaptopurine maintenance therapy influences the risk of a second malignant neoplasm after childhood acute lymphoblastic leukemia: results from the NOPHO ALL-92 studyBlood2009113246077608419224761
  • BoothRAAnsariMTLoitEAssessment of thiopurine S-methyltransferase activity in patients prescribed thiopurines: a systematic reviewAnn Intern Med201115412814823W-295W-29821690596
  • LevinsenMRosthojSNygaardUMyelotoxicity after high-dose methotrexate in childhood acute leukemia is influenced by 6-mercaptopurine dosing but not by intermediate thiopurinemethyltransferase activityCancer Chemother Pharmacol2015751596625347948
  • TammRMagiRTremmelRPolymorphic variation in TPMT is the principal determinant of TPMT phenotype: a meta-analysis of three genome-wide association studiesClin Pharmacol Ther Epub20161022
  • FordLProutCGaffneyDBergJWhose TPMT activity is it anyway?Ann Clin Biochem200441Pt 649850015588444
  • LennardLChewTSLilleymanJSHuman thiopurinemethyltransferase activity varies with red blood cell ageBr J Clin Pharmacol200152553954611736862
  • YanLZhangSEiffBThiopurinemethyltransferase polymorphic tandem repeat: genotype-phenotype correlation analysisClin Pharmacol Ther200068221021910976552
  • LauJIoannidisJPTerrinNSchmidCHOlkinIThe case of the misleading funnel plotBMJ2006333756859760016974018
  • AlmogueraBVazquezLConnollyJJImputation of TPMT defective alleles for the identification of patients with high-risk phenotypesFront Genet201459624860591
  • RellingMVGardnerEESandbornWJClinical pharmacogenetics implementation consortium guidelines for thiopurinemethyltransferase genotype and thiopurine dosing: 2013 updateClin Pharmacol Ther201393432432523422873
  • LennardLVan LoonJALilleymanJSWeinshilboumRMThiopurinepharmacogenetics in leukemia: correlation of erythrocyte thiopurinemethyltransferase activity and 6-thioguanine nucleotide concentrationsClin Pharmacol Ther198741118253467886
  • LennardLGibsonBENicoleTLilleymanJSCongenital thiopurinemethyltransferase deficiency and 6-mercaptopurine toxicity during treatment for acute lymphoblastic leukaemiaArch Dis Child19936955775798257179
  • LennardLLilleymanJSVan LoonJWeinshilboumRMGenetic variation in response to 6-mercaptopurine for childhood acute lymphoblastic leukaemiaLancet199033687092252291973780
  • DokmanovicLUrosevicJJanicDAnalysis of thiopurine S-methyltransferase polymorphism in the population of Serbia and Montenegro and mercaptopurine therapy tolerance in childhood acute lymphoblastic leukemiaTher Drug Monit200628680080617164697
  • RellingMVRubnitzJERiveraGKHigh incidence of secondary brain tumours after radiotherapy and antimetabolitesLancet19993549172343910406363
  • RellingMVYanishevskiYNemecJEtoposide and antimetabolite pharmacology in patients who develop secondary acute myeloid leukemiaLeukemia19981233463529529129
  • PuiCHPeiDSandlundJTLong-term results of St Jude Total Therapy Studies 11, 12, 13A, 13B, and 14 for childhood acute lymphoblastic leukemiaLeukemia201024237138220010620
  • RellingMVPuiCHChengCEvansWEThiopurinemethyltransferase in acute lymphoblastic leukemiaBlood2006107284384416401827
  • RochaJCChengCLiuWPharmacogenetics of outcome in children with acute lymphoblastic leukemiaBlood2005105124752475815713801
  • MoriyamaTRellingMVYangJJInherited genetic variation in childhood acute lymphoblastic leukemiaBlood20151253988399525999454
  • SchmiegelowKForestierEHellebostadMLong-term results of NOPHO ALL-92 and ALL-2000 studies of childhood acute lymphoblastic leukemiaLeukemia201024234535420010622
  • SchmiegelowKBjorkOGlomsteinAIntensification of mercaptopurine/methotrexate maintenance chemotherapy may increase the risk of relapse for some children with acute lymphoblastic leukemiaJ Clin Oncol20032171332133912663723
  • ThomsenJBSchrøderHKristinssonJPossible carcinogenic effect of 6-mercaptopurine on bone marrow stem cellsCancer19998661080108610491537
  • LevinsenMRotevatnEØRosthøjSPharmacogenetically based dosing of thiopurines in childhood acute lymphoblastic leukemia: influence on cure rates and risk of second cancerPediatric Blood Cancer201461579780224395436
  • LennardLCartwrightCSWadeRVoraAThiopurine dose intensity and treatment outcome in childhood lymphoblastic leukaemia: the influence of thiopurine methyltransferase pharmacogeneticsBr J Haematol2015169222824025441457
  • StanullaMSchaeffelerEFlohrTThiopurine methyltransferase (TPMT) genotype and early treatment response to mercaptopurine in childhood acute lymphoblastic leukemiaJAMA2005293121485148915784872
  • StanullaMSchaeffelerEMorickeAThiopurine methyltransferase genetics is not a major risk factor for secondary malignant neoplasms after treatment of childhood acute lymphoblastic leukemia on Berlin-Frankfurt-Munster protocolsBlood200911471314131819535798
  • LiuYPWuHYYangXAssociation between thiopurine S-methyltransferase polymorphisms and thiopurine-induced adverse drug reactions in patients with inflammatory bowel disease: a meta-analysisPLoS One2015103e012174525799415
  • de JongDJDerijksLJNaberAHHooymansPMMulderCJSafety of thiopurines in the treatment of inflammatory bowel diseaseScand J Gastroenterol Suppl2003239697214743886
  • HindorfULindqvistMPetersonCPharmacogenetics during standardised initiation of thiopurine treatment in inflammatory bowel diseaseGut200655101423143116543290
  • AnsariAArenasMGreenfieldSMProspective evaluation of the pharmacogenetics of azathioprine in the treatment of inflammatory bowel diseaseAliment Pharmacol Ther200828897398318616518
  • DerijksLJGilissenLPEngelsLGPharmacokinetics of 6-mercaptopurine in patients with inflammatory bowel disease: implications for therapyTher Drug Monit200426331131815167634
  • MeggittSJGrayJCReynoldsNJAzathioprine dosed by thiopurinemethyltransferase activity for moderate-to-severe atopic eczema: a double-blind, randomised controlled trialLancet2006367951383984616530578
  • van den Akker-van MarleMEGurwitzDDetmarSBCost-effectiveness of pharmacogenomics in clinical practice: a case study of thiopurinemethyltransferase genotyping in acute lymphoblastic leukemia in EuropePharmacogenomics20067578379216886902
  • SayaniFAProsserCBaileyRJJacobsPFedorakRNThiopurine methyltransferase enzyme activity determination before treatment of inflammatory bowel disease with azathioprine: effect on cost and adverse eventsCan J Gastroenterol200519314715115776134
  • PayneKNewmanWGGurwitzDIbarretaDPhillipsKATPMT testing in azathioprine: a ‘cost-effective use of healthcare resources’?Personal Med200861103113
  • MarraCAEsdaileJMAnisAHPractical pharmacogenetics: the cost effectiveness of screening for thiopurine S-methyltransferase polymorphisms in patients with rheumatological conditions treated with azathioprineJ Rheumatol200229122507251212465143
  • ThompsonAJNewmanWGElliottRARobertsSATrickerKPayneKThe cost-effectiveness of a pharmacogenetic test: a trial-based evaluation of TPMT genotyping for azathioprineValue Health2014171223324438714
  • FargherEATrickerKNewmanWCurrent use of pharmacogenetic testing: a national survey of thiopurine methyltransferase testing prior to azathioprine prescriptionJ Clin Pharm Ther200732218719517381669
  • ZelinkovaZDerijksLJStokkersPCInosine triphosphate pyro-phosphatase and thiopurine s-methyltransferase genotypes relationship to azathioprine-induced myelosuppressionClin Gastroenterol Hepatol200641444916431304