Karyotypic abnormalities create discordance of germline genotype and cancer cell phenotypes

Nature Genetics

Volumn 37, Issue 8, 2005, Pages 878-882

  Cheng, Qing ^a   Yang, WenJian ^a   Raimondi, Susana C ^a   Pui, Ching Hon ^a   Railing, Mary V ^a   Evans, William E ^a  

^a ST JUDE CHILDREN S RESEARCH HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; GAMMA GLUTAMYL HYDROLASE; METHOTREXATE; METHOTREXATE POLYGLUTAMATE; THIOPURINE METHYLTRANSFERASE; TIOGUANINE;

ACUTE LYMPHOBLASTIC LEUKEMIA; ADOLESCENT; ALLELE; ARTICLE; CANCER CELL; CHILD; CHROMOSOME; ENZYME ACTIVITY; GENETIC POLYMORPHISM; GENOTYPE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; HUMAN CELL; KARYOTYPE; LEUKEMIA CELL; MAJOR CLINICAL STUDY; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RADIOENZYMATIC ASSAY;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; GAMMA-GLUTAMYL HYDROLASE; GENOTYPE; GERM CELLS; HUMANS; INFANT; KARYOTYPING; LEUKEMIA, B-CELL, ACUTE; MEMBRANE TRANSPORT PROTEINS; METHYLTRANSFERASES; MICROSATELLITE REPEATS; PHENOTYPE;

EID: 23044474063     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng1612     Document Type: Article

References (30)

1. Evans, W.E. & Relling, M.V. Moving towards individualized medicine with pharmacogenomics. Nature 429, 464-468 (2004).
2. Evans, W.E. & McLeod, H.L. Pharmacogehomics-drug disposition, drug targets, and side effects. N. Engl. J. Med. 348, 538-549 (2003).
3. Rajagopalan, H. & Lengauer, C. Aneuploidy and cancer. Nature 432, 338-341 (2004).
4. Draviam, V.M., Xie, S. & Sorger, P.K. Chromosome segregation and genomic stability. Curr. Opin. Genet. Dev. 14, 120-125 (2004).
5. Pui, C.H., Relling, M.V. & Downing, J.R. Acute lymphoblastic leukemia. N. Engl. J. Med. 350, 1535-1548 (2004).
6. Pui, C.H. & Evans, W.E. Acute lymphoblastic leukemia. N. Engl. J. Med. 339, 605-615 (1998).
7. Massen, E. et al. Accumulation of methotrexate polyglutamates in lymphoblasts is a determinant of antileukemic effects in vivo. A rationale for high-dose methotrexate. J. Clin. Invest. 97, 73-80 (1996).
8. Lilleyman, J.S. & Lennard, L. Mercaptopurine metabolism and risk of relapse in childhood lymphoblastic leukaemia. Lancet 343, 1188-1190 (1994).
9. Krynetski, E.Y., Krynetskaia, N.F., Yanishevski, Y. & Evans, W.E. Methylation of mercaptopurine, thioguanine, and their nucleotide metabolites by heterologously expressed human thiopurine S-methyltransferase. Mol. Pharmacol. 47, 1141-1147 (1995).
10. Panetta, J.C., Wall, A., Pui, C.H., Relling, M.V. & Evans, W.E. Methotrexate intracellular disposition in acute lymphoblastic leukemia: a mathematical model of gamma-glutamyl hydrolase activity. Clin. Cancer Res. 8, 2423-2429 (2002).
11. Belkov, V.M. et al. Reduced folate carrier expression in acute lymphoblastic leukemia: a mechanism for ploidy but not lineage differences in methotrexate accumulation. Blood 93, 1643-1650 (1999).
12. Tai, H.L. et al. Thiopurine S-methyltransferase deficiency: two nucleotide transitions define the most prevalent mutant allele associated with loss of catalytic activity in Caucasians. Am. J. Hum. Genet. 58, 694-702 (1996).
13. Cheng, Q. et al. A substrate specific functional polymorphism of human gamma-glutamyl hydrolase alters catalytic activity and methotrexate polyglutamate accumulation in acute lymphoblastic leukaemia cells. Pharmacogenetics 14, 557-567 (2004).
14. Chango, A. et al. A polymorphism (80G->A) in the reduced folate carrier gene and its associations with folate status and homocysteinemia. Mol. Genet. Metab. 70, 310-315 (2000).
15. Paulsson, K. et al. Formation of trisomies and their parental origin in hyperdiploid childhood acute lymphoblastic leukemia. Blood 102, 3010-3015 (2003).
16. Synold, T.W. et al. Blast cell methotrexate-polyglutamate accumulation in vivo differs by lineage, ploidy, and methotrexate dose in acute lymphoblastic leukemia. J Clin Invest 94, 1996-2001 (1994).
17. Hanahan, D. & Weinberg, R.A. The hallmarks of cancer. Cell 100, 57-70 (2000).
18. Albertson, D.G., Collins, C., McCormick, F. & Gray, J.W. Chromosome aberrations in solid tumors. Nat. Genet. 34, 369-376 (2003).
19. Baak, J.P. et al. Genomics and proteomics in cancer, Eur. J. Cancer 39, 1199-1215 (2003).
20. Bardi, G., Fenger, C., Johansson, B., Mitelman, F. & Heim, S. Tumor karyotype predicts clinical outcome in colorectal cancer patients. J. Clin. Oncol. 22, 2623-2634 (2004).
21. Mayr, D. et al. Characteristic pattern of genetic aberrations in ovarian granulosa cell tumors. Mod. Pathol. 15, 951-957 (2002).
22. Verdorfer, I. et al. Combined study of prostatic carcinoma by classical cytogenetic analysis and comparative genomic hybridization. Int. J. Oncol. 19, 1263-1270 (2001).
23. Gollin, S.M. Chromosomal instability. Curr. Opin. Oncol. 16, 25-31 (2004).
24. Masuda, A. & Takahashi, T. Chromosome instability in human lung cancers: possible underlying mechanisms and potential consequences in the pathogenesis. Oncogene 21, 6884-6897 (2002).
25. Rivera, G.K. et al. Bone marrow recurrence after initial intensive treatment for childhood acute lymphoblastic leukemia. Cancer 103, 368-376 (2005).
26. FitzPatrick, D.R. et al. Transcriptome analysis of human autosomal trisomy. Hum. Mol. Genet. 11, 3249-3256 (2002).
27. Pui, C.H. et al. Rationale and design of Total Therapy Study XV for newly diagnosed childhood acute lymphoblastic leukemia. Ann. Hematol. 83 Suppl. 1, S124-S126 (2004).
28. Mitelman, F. An International System for Human Cytogenetic Nomenclature (Karger, Basel, 1995).
29. Dervieux, T. et al. HPLC determination of thiopurine nucleosides and nucleotides in vivo in lymphoblasts following mercaptopurine therapy. Clin. Chem. 48, 61-68 (2002).
30. Yates, C.R. et al. Molecular diagnosis of thiopurine S-methyltransferase deficiency: genetic basis for azathioprine and mercaptopurine intolerance. Ann. Intern. Med. 126, 608-614 (1997).