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Seminars in Hematology
Volume 46, Issue 1
, Pages 39-51
, January 2009
Pharmacogenetics in Acute Lymphoblastic Leukemia
References
- . Moving towards individualized medicine with pharmacogenomics. Nature. 2004;429:464–468
- . Additional SNPs and linkage-disequilibrium analyses are necessary for whole-genome association studies in humans. Nat Genet. 2003;33:518–521
- Whole-genome patterns of common DNA variation in three human populations. Science. 2005;307:1072–1079
- A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms. Nature. 2001;409:928–933
- . Searching for genetic determinants in the new millennium. Nature. 2000;405:847–856
- A substrate specific functional polymorphism of human gamma-glutamyl hydrolase alters catalytic activity and methotrexate polyglutamate accumulation in acute lymphoblastic leukaemia cells. Pharmacogenetics. 2004;14:557–567
- A “silent” polymorphism in the MDR1 gene changes substrate specificity. Science. 2007;315:525–528
- . A miR-24 microRNA binding-site polymorphism in dihydrofolate reductase gene leads to methotrexate resistance. Proc Natl Acad Sci U S A. 2007;104:13513–13518
- The structure of haplotype blocks in the human genome. Science. 2002;296:2225–2229
- . Pharmacogenetics and the practice of medicine. Nature. 2000;405:857–865
- . A haplotype map of the human genome. Nature. 2005;437:1299–1320
- Large-scale genotyping of complex DNA. Nat Biotechnol. 2003;21:1233–1237
- . Digital genotyping using molecular affinity and mass spectrometry. Nat Rev Genet. 2003;4:1001–1008
- High-throughput genotyping with single nucleotide polymorphisms. Genome Res. 2001;11:1262–1268
- . Enabling large-scale pharmacogenetic studies by high-throughput mutation detection and genotyping technologies. Clin Chem. 2001;47:164–172
- . Accessing genetic variation: genotyping single nucleotide polymorphisms. Nat Rev Genet. 2001;2:930–942
- . Guilt by association. Nat Genet. 2000;26:135–137
- . Genomics (Genetic association by whole-genome analysis?). Science. 2001;294:1669–1670
- . Opinion: candidate-gene approaches for studying complex genetic traits: practical considerations. Nat Rev Genet. 2002;3:391–397
- Completing the map of human genetic variation. Nature. 2007;447:161–165
- Challenges and standards in integrating surveys of structural variation. Nat Genet. 2007;39:S7–S15
- Epidermal growth factor receptor gene and protein and gefitinib sensitivity in non-small-cell lung cancer. J Natl Cancer Inst. 2005;97:643–655
- Genome-wide analysis of genetic alterations in acute lymphoblastic leukaemia. Nature. 2007;446:758–764
- . Clinical implications of recurring chromosomal and associated molecular abnormalities in acute lymphoblastic leukemia. Semin Hematol. 2000;37:381–395
- . Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease. Hum Mol Genet. 2004;13:R57–R64Spec No 1
- . Loss of constitutional heterozygosity in human cancer. Annu Rev Genet. 1991;25:281–314
- The MicroArray Quality Control (MAQC) project shows inter- and intraplatform reproducibility of gene expression measurements. Nat Biotechnol. 2006;24:1151–1161
- . MicroRNAs: genomics, biogenesis, mechanism, and function. Cell. 2004;116:281–297
- . Expression profiling of microRNA using oligo DNA arrays. Methods. 2008;44:22–30
- . Challenges for biomedical informatics and pharmacogenomics. Annu Rev Pharmacol Toxicol. 2002;42:113–133
- Chemogenomic profiling on a genome-wide scale using reverse-engineered gene networks. Nat Biotechnol. 2005;23:377–383
- . Inferring genetic networks and identifying compound mode of action via expression profiling. Science. 2003;301:102–105
- . Genetics (Getting closer to the whole picture). Science. 2007;316:550–551
- . Karyotypic abnormalities create discordance of germline genotype and cancer cell phenotypes. Nat Genet. 2005;37:878–882
- . Gene discovery using the serial analysis of gene expression technique: implications for cancer research. J Clin Oncol. 2001;19:2948–2958
- Treatment-specific changes in gene expression discriminate in vivo drug response in human leukemia cells. Nat Genet. 2003;34:85–90
- . A genome-wide view of the in vitro response to l-asparaginase in acute lymphoblastic leukemia. Cancer Res. 2005;65:291–299
- . Inheritance and drug response. N Engl J Med. 2003;348:529–537
- . Folate cycle gene variants and chemotherapy toxicity in pediatric patients with acute lymphoblastic leukemia. Haematologica. 2006;91:1113–1116
- Effect of polymorphisms in folate-related genes on in vitro methotrexate sensitivity in pediatric acute lymphoblastic leukemia. Blood. 2005;106:717–720
- Ancestry and pharmacogenetics of antileukemic drug toxicity. Blood. 2007;109:4151–4157
- Pharmacogenetics of outcome in children with acute lymphoblastic leukemia. Blood. 2005;105:4752–4758
- . Prognostic importance of 6-mercaptopurine dose intensity in acute lymphoblastic leukemia. Blood. 1999;93:2817–2823
- . Pharmacogenomics and individualized drug therapy. Annu Rev Med. 2006;57:119–137
- . A single point mutation leading to loss of catalytic activity in human thiopurine S-methyltransferase. Proc Natl Acad Sci U S A. 1995;92:949–953
- . Genetic polymorphism of thiopurine methyltransferase and its clinical relevance for childhood acute lymphoblastic leukemia. Leukemia. 2000;14:567–572
- . Mercaptopurine pharmacogenetics: monogenic inheritance of erythrocyte thiopurine methyltransferase activity. Am J Hum Genet. 1980;32:651–662
- Molecular diagnosis of thiopurine S-methyltransferase deficiency: genetic basis for azathioprine and mercaptopurine intolerance. Ann Intern Med. 1997;126:608–614
- . Genetic variation in response to 6-mercaptopurine for childhood acute lymphoblastic leukaemia. Lancet. 1990;336:225–229
- . Altered mercaptopurine metabolism, toxic effects, and dosage requirement in a thiopurine methyltransferase-deficient child with acute lymphocytic leukemia. J Pediatr. 1991;119:985–989
- Preponderance of thiopurine S-methyltransferase deficiency and heterozygosity among patients intolerant to mercaptopurine or azathioprine. J Clin Oncol. 2001;19:2293–2301
- Mercaptopurine therapy intolerance and heterozygosity at the thiopurine S-methyltransferase gene locus. J Natl Cancer Inst. 1999;91:2001–2008
- Etoposide and antimetabolite pharmacology in patients who develop secondary acute myeloid leukemia. Leukemia. 1998;12:346–352
- High incidence of secondary brain tumours after radiotherapy and antimetabolites. Lancet. 1999;354:34–39
- Thiopurine methyltransferase (TPMT) genotype and early treatment response to mercaptopurine in childhood acute lymphoblastic leukemia. JAMA. 2005;293:1485–1489
- Analysis of methotrexate and folate transport by multidrug resistance protein 4 (ABCC4): MRP4 is a component of the methotrexate efflux system. Cancer Res. 2002;62:3144–3150
- Antifolate resistance mediated by the multidrug resistance proteins MRP1 and MRP2. Cancer Res. 1999;59:2532–2535
- . Transport of methotrexate (MTX) and folates by multidrug resistance protein (MRP) 3 and MRP1: effect of polyglutamylation on MTX transport. Cancer Res. 2001;61:7225–7232
- . Enzymatic synthesis of folylpolyglutamates (Characterization of the reaction and its products). J Biol Chem. 1980;255:5776–5788
- . Novel aspects of resistance to drugs targeted to dihydrofolate reductase and thymidylate synthase. Biochim Biophys Acta. 2002;1587:164–173
- Polyglutamation of methotrexate (Is methotrexate a prodrug?). J Clin Invest. 1985;76:907–912
- Differences in constitutive and post-methotrexate folylpolyglutamate synthetase activity in B-lineage and T-lineage leukemia. Blood. 1994;84:564–569
- Accumulation of methotrexate polyglutamates in lymphoblasts is a determinant of antileukemic effects in vivo (A rationale for high-dose methotrexate). J Clin Invest. 1996;97:73–80
- . Accumulation of methotrexate and methotrexate polyglutamates in lymphoblasts at diagnosis of childhood acute lymphoblastic leukemia: a pilot prognostic factor analysis. Blood. 1990;76:44–49
- Clinical pharmacodynamics of high-dose methotrexate in acute lymphocytic leukemia (Identification of a relation between concentration and effect). N Engl J Med. 1986;314:471–477
- . Conventional compared with individualized chemotherapy for childhood acute lymphoblastic leukemia. N Engl J Med. 1998;338:499–505
- A mutation in the drug transporter gene ABCC2 associated with impaired methotrexate elimination. Pharmacogenet Genom. 2005;15:277–285
- . High-dose methotrexate in pediatric acute lymphoblastic leukemia: impact of ABCC2 polymorphisms on plasma concentrations. Clin Pharmacol Ther. 2006;80:468–476
- . Role of polymorphisms in MTHFR and MTHFD1 genes in the outcome of childhood acute lymphoblastic leukemia. Pharmacogenomics J. 2004;4:66–72
- Methylenetetrahydrofolate reductase polymorphisms and therapy response in pediatric acute lymphoblastic leukemia. Cancer Res. 2005;65:2482–2487
- . Differing effects of methylenetetrahydrofolate reductase single nucleotide polymorphisms on methotrexate efficacy and toxicity in rheumatoid arthritis. Pharmacogenetics. 2002;12:181–182
- . Polymorphism of the thymidylate synthase gene and outcome of acute lymphoblastic leukaemia. Lancet. 2002;359:1033–1034
- . Thymidylate synthase gene polymorphism and its association with relapse in childhood B-cell precursor acute lymphoblastic leukemia. Haematologica. 2003;88:353–354
- . The influence of cyclin D1 (CCND1) 870A>G polymorphism and CCND1-thymidylate synthase (TS) gene-gene interaction on the outcome of childhood acute lymphoblastic leukaemia. Pharmacogenetics. 2003;13:577–580
- Folate pathway gene expression differs in subtypes of acute lymphoblastic leukemia and influences methotrexate pharmacodynamics. J Clin Invest. 2005;115:110–117
- In vivo response to methotrexate forecasts outcome of acute lymphoblastic leukemia and has a distinct gene expression profile. PLoS Med. 2008;5:e83
- The Eighth International Childhood Acute Lymphoblastic Leukemia Workshop (‘Ponte di legno meeting’) report: Vienna, Austria, April 27-28, 2005. Leukemia. 2006;20:9–17
- Incidence and outcome of TCF3-PBX1-positive acute lymphoblastic leukemia in Austrian children. Haematologica. 2007;92:1561–1564
- DNA variants in the dihydrofolate reductase gene and outcome in childhood ALL. Blood. 2008;111:692–700
- . Treatment of acute lymphoblastic leukemia. N Engl J Med. 2006;354:166–178
- . Cyclin D3 and c-MYC control glucocorticoid-induced cell cycle arrest but not apoptosis in lymphoblastic leukemia cells. Cell Death Differ. 2004;11:165–174
- . Glucocorticoid action on the immune system. J Steroid Biochem. 1987;27:201–208
- . Glucocorticoid-induced apoptosis and glucocorticoid resistance: molecular mechanisms and clinical relevance. Cell Death Differ. 2004;11(Suppl 1):S45–S55
- Prednisone response is the strongest predictor of treatment outcome in infant acute lymphoblastic leukemia. Blood. 1999;94:1209–1217
- . Association of initial response to prednisone treatment in childhood acute lymphoblastic leukaemia and polymorphisms within the tumour necrosis factor and the interleukin-10 genes. Leukemia. 2002;16:1437–1442
- Biological characteristics and prognostic value of in vitro three-drug resistance to prednisolone, L-asparaginase, and vincristine in childhood acute lymphoblastic leukemia. Int J Hematol. 1999;70:268–277
- In vitro cellular drug resistance and prognosis in newly diagnosed childhood acute lymphoblastic leukemia. Blood. 1997;90:2723–2729
- . The human glucocorticoid receptor: one gene, multiple proteins and diverse responses. Steroids. 2005;70:407–417
- . Glucocorticoid resistance—what is known?. Curr Opin Pharmacol. 2002;2:723–729
- Gene-expression patterns in drug-resistant acute lymphoblastic leukemia cells and response to treatment. N Engl J Med. 2004;351:533–542
- Expression of SMARCB1 modulates steroid sensitivity in human lymphoblastoid cells: identification of a promoter SNP that alters PARP1 binding and SMARCB1 expression. Hum Mol Genet. 2007;16:2261–2271
- Gene expression-based chemical genomics identifies rapamycin as a modulator of MCL1 and glucocorticoid resistance. Cancer Cell. 2006;10:331–342
- Cheok MH, Pottier N, Yang W, Assem M, Panetta JC, Pei D, et al. The SWI/SNF-chromatin-remodeling complex is a determinant of glucocorticoid resistance in acute lymphoblastic leukemia. J Natl Cancer Inst. In press.
- Genomewide identification of prednisolone-responsive genes in acute lymphoblastic leukemia cells. Blood. 2007;109:3929–3935
- . Glucocorticoid receptor-glucocorticoid response element binding stimulates nucleosome disruption by the SWI/SNF complex. Mol Cell Biol. 1997;17:895–905
- . Reconstitution of glucocorticoid receptor-dependent transcription in vivo. Mol Cell Biol. 2004;24:3347–3358
- . Recruitment of the SWI-SNF chromatin remodeling complex as a mechanism of gene activation by the glucocorticoid receptor tau1 activation domain. Mol Cell Biol. 2000;20:2004–2013
- . Mesenchymal cells regulate the response of acute lymphoblastic leukemia cells to asparaginase. J Clin Invest. 2007;117:1049–1057
- Concordant gene expression in leukemia cells and normal leukocytes is associated with germline cis-SNPs. PLoS ONE. 2008;3:e2144
- Molecular classification of cancer: class discovery and class prediction by gene expression monitoring. Science. 1999;286:531–537
- Classification of pediatric acute lymphoblastic leukemia by gene expression profiling. Blood. 2003;102:2951–2959
- Classification, subtype discovery, and prediction of outcome in pediatric acute lymphoblastic leukemia by gene expression profiling. Cancer Cell. 2002;1:133–143
- . Gene expression as a drug discovery tool. Nat Genet. 2004;36:214–215
- . Pharmacogenetics and cancer therapy. Nat Rev Cancer. 2001;1:99–108
- Identification of genes associated with chemotherapy crossresistance and treatment response in childhood acute lymphoblastic leukemia. Cancer Cell. 2005;7:375–386
- . Mining the genome for combination therapies. Nat Med. 2003;9:510–511
- . Gene expression-based high-throughput screening(GE-HTS) and application to leukemia differentiation. Nat Genet. 2004;36:257–263
- The Connectivity Map: using gene-expression signatures to connect small molecules, genes, and disease. Science. 2006;313:1929–1935
- Identification of genomic classifiers that distinguish induction failure in T-lineage acute lymphoblastic leukemia: a report from the Children's Oncology Group. Blood. 2007;110:1429–1438
- Pharmacogenetics of minimal residual disease response in children with B-precursor acute lymphoblastic leukemia: a report from the Children's Oncology Group. Blood. 2008;111:2984–2990
- Genes contributing to minimal residual disease in childhood acute lymphoblastic leukemia: prognostic significance of CASP8AP2. Blood. 2006;108:1050–1057
- A set of genes that regulate cell proliferation predicts treatment outcome in childhood acute lymphoblastic leukemia. Blood. 2007;110:1271–1277
- Biologic pathways associated with relapse in childhood acute lymphoblastic leukemia: a Children's Oncology Group study. Blood. 2006;108:711–717
- . Loss of heterozygosity in childhood acute lymphoblastic leukemia detected by genome-wide microarray single nucleotide polymorphism analysis. Cancer Res. 2005;65:3053–3058
- Genome-wide approach to identify risk factors for therapy-related myeloid leukemia. Leukemia. 2006;20:239–246
- Genome scan implicates adhesion biological pathways in secondary leukemia. Leukemia. 2007;21:2128–2136
- Genetic predictors of glucocorticoid-induced hypertension in children with acute lymphoblastic leukemia. Pharmacogenet Genom. 2008;18:507–514
- Pharmacogenetic risk factors for osteonecrosis of the hip among children with leukemia. J Clin Oncol. 2004;22:3930–3936
- A PAI-1 (SERPINE1) polymorphism predicts osteonecrosis in children with acute lymphoblastic leukemia: a report from the Children's Oncology Group. Blood. 2008;111:4496–4499
- . Pharmacogenomics—drug disposition, drug targets, and side effects. N Engl J Med. 2003;348:538–549
This work was supported in part by National Institutes of Health Grants No. R37 CA36401, R01 CA78224, and U01 GM61393, by Cancer Center Support Grant No. CA21765, by the American Lebanese Syrian Associated Charities (WEE), by a research grant of the Institut National de la sante et de la recherche medicale (Inserm), Paris, France, and by the Institut National du Cancer (INCa), Boulogne Bilancourt, France (M.H.C.)
PII: S0037-1963(08)00144-3
doi: 10.1053/j.seminhematol.2008.09.002
© 2009 Elsevier Inc. All rights reserved.
« Previous
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Seminars in Hematology
Volume 46, Issue 1
, Pages 39-51
, January 2009
