Influence of genetic polymorphisms on the risk of developing leukemia and on disease progression

被引:80
作者
Bolufer, Pascual [1 ]
Barragan, Eva
Collado, Maria
Cervera, Jose
Lopez, Jose-Antonio
Sanz, Miguel A.
机构
[1] Hosp Univ La Fe, Dept Med Biopathol, Mol Biol Lab, Valencia, Spain
[2] Hosp Univ La Fe, Hematol Serv, Valencia, Spain
[3] Fdn Inst Valenciano Oncol, Valencia, Spain
关键词
polymorphisms; genetic predisposition; leukemia; therapy-related leukemia; risk;
D O I
10.1016/j.leukres.2006.01.016
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
Background: Recent studies have provided evidence that common genetic variations with low penetrance could account for a proportion of leukemia and could also influence disease outcome, although the results obtained are still controversial. Material and methods: We reviewed 54 recent reports focused on the contribution of genetic polymorphisms to the risk of developing leukemia and to disease progression. The polymorphisms of genes encoding drug-metabolising enzymes (CYP family, NQO1, GSTT1, GSTM1, GSTP1), enzymes involved in folate metabolism (MTHFR, TYMS, SHMT1, MTRR), and DNA repair enzymes (XPD, XPG, RAD51, XRCC1, XRCC3, CHEK2, ATM) were considered in the review. Results: There was a good agreement on the influence of NQO1*2 polymorphism and those of the enzymes involved in DNA repair with the increased risk of therapy-related leukemia/myelodysplastic syndrome. Most studies found a strong association between the polymorphisms MTHFR. C677T or A1298C, and NQO1*2 or *3 and the risk of acute lymphoblastic leukemia (ALL). In addition, most of the studies reported an association between GSTT1 deletions and an increased risk of de novo acute myeloid leukemia. In ALL, polymorphisms in the genes of folate metabolism are associated with poor prognosis, and the 3R3R TYMS polymorphism in particular is associated with methottexate resistance. Conclusion: The reports reviewed support the hypothesis that several low-penetrance genes with multiplicative effects together with dietary effects, ambient exposition, and individual immune system responses, may account for the risk of leukaemia. (c) 2006 Published by Elsevier Ltd.
引用
收藏
页码:1471 / 1491
页数:21
相关论文
共 112 条
[91]   Low NAD(P)H:quinone oxidoreductase activity is associated with increased risk of leukemia with MLL translocations in infants and children [J].
Smith, MT ;
Wang, YX ;
Skibola, CF ;
Slater, DJ ;
Lo Nigro, L ;
Nowell, PC ;
Lange, BJ ;
Felix, CA .
BLOOD, 2002, 100 (13) :4590-4593
[92]   Characterization of the glutathione S-transferase GSTT1 deletion:: discrimination of all genotypes by polymerase chain reaction indicates a trimodular genotype-phenotype correlation [J].
Sprenger, R ;
Schlagenhaufer, R ;
Kerb, R ;
Bruhn, C ;
Brockmöller, J ;
Roots, I ;
Brinkmann, U .
PHARMACOGENETICS, 2000, 10 (06) :557-565
[93]   ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles:: Expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer [J].
Stankovic, T ;
Kidd, AMJ ;
Sutcliffe, A ;
McGuire, GM ;
Robinson, P ;
Weber, P ;
Bedenham, T ;
Bradwell, AR ;
Easton, DF ;
Lennox, GG ;
Haites, N ;
Byrd, PJ ;
Taylor, AMR .
AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 62 (02) :334-345
[94]   Polymorphisms within glutathione S-transferase genes (GSTM1, GSTT1, GSTP1) and risk of relapse in childhood B-cell precursor acute lymphoblastic leukemia:: a case-control study [J].
Stanulla, M ;
Schrappe, M ;
Brechlin, AM ;
Zimmermann, M ;
Welte, K .
BLOOD, 2000, 95 (04) :1222-1228
[95]   Polymorphisms in methylenetetrahydrofolate reductase and methotrexate sensitivity in childhood acute lymphoblastic leukemia [J].
Taub, JW ;
Matherly, LH ;
Ravindranath, Y ;
Kaspers, GJL ;
Rots, MG ;
van Zantwijk, CH .
LEUKEMIA, 2002, 16 (04) :764-765
[96]  
TRAVER RD, 1992, CANCER RES, V52, P797
[97]   Pharmacogenetics of methotrexate: toxicity among marrow transplantation patients varies with the methylenetetrahydrofolate reductase C677T polymorphism [J].
Ulrich, CM ;
Yasui, Y ;
Storb, R ;
Schubert, MM ;
Wagner, JL ;
Bigler, J ;
Ariail, KS ;
Keener, CL ;
Li, S ;
Liu, H ;
Farin, FM ;
Potter, JD .
BLOOD, 2001, 98 (01) :231-234
[98]   A second common mutation in the methylenetetrahydrofolate reductase gene:: An additional risk factor for neural-tube defects? [J].
van der Put, NMJ ;
Gabreëls, F ;
Stevens, EMB ;
Smeitink, JAM ;
Trijbels, FJM ;
Eskes, TKAB ;
van den Heuvel, LP ;
Blom, HJ .
AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 62 (05) :1044-1051
[99]  
van Schaik RHN, 2000, CLIN CHEM, V46, P1834
[100]   AN XPG DNA-REPAIR DEFECT CAUSING MUTAGEN HYPERSENSITIVITY IN MOUSE LEUKEMIA-L1210 CELLS [J].
VILPO, JA ;
VILPO, LM ;
SZYMKOWSKI, DE ;
ODONOVAN, A ;
WOOD, RD .
MOLECULAR AND CELLULAR BIOLOGY, 1995, 15 (01) :290-297