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Research Article

Genetic Variants of Thiopurine and Folate Metabolic Pathways Determine 6-MP-Mediated Hematological Toxicity in Childhood ALL

, , , , , , & show all
Pages 1001-1008 | Published online: 27 Jul 2012

References

  • Krynetski EY , EvansWE. Pharmacogenetics of cancer therapy: getting personal. Am. J. Hum. Genet.63(1) , 11–16 (1998).
  • McLeod HL , KrynetskiEY, RellingMV, EvansWE. Genetic polymorphism of thiopurine methyltransferase and its clinical relevance for childhood acute lymphoblastic leukemia. Leukemia14(4) , 567–572 (2000).
  • Lennard L , LilleymanJS, VanLJ, WeinshilboumRM. Genetic variation in response to 6-mercaptopurine for childhood acute lymphoblastic leukaemia. Lancet336(8709) , 225–229 (1990).
  • Yates CR , KrynetskiEY, LoennechenT et al. Molecular diagnosis of thiopurine S-methyltransferase deficiency: genetic basis for azathioprine and mercaptopurine intolerance. Ann. Intern. Med. 126(8) , 608–614 (1997).
  • Krynetski EY , KrynetskaiaNF, YanishevskiY, EvansWE. Methylation of mercaptopurine, thioguanine, and their nucleotide metabolites by heterologously expressed human thiopurine S-methyltransferase. Mol. Pharmacol.47(6) , 1141–1147 (1995).
  • Loennechen T , YatesCR, FessingMY, RellingMV, KrynetskiEY, EvansWE. Isolation of a human thiopurine S-methyltransferase (TPMT) complementary DNA with a single nucleotide transition A719G (TPMT*3C) and its association with loss of TPMT protein and catalytic activity in humans. Clin. Pharmacol. Ther.64(1) , 46–51 (1998).
  • Tai HL , KrynetskiEY, YatesCR 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(4) , 694–702 (1996).
  • Otterness D , SzumlanskiC, LennardL et al. Human thiopurine methyltransferase pharmacogenetics: gene sequence polymorphisms. Clin. Pharmacol. Ther. 62(1) , 60–67 (1997).
  • Dorababu P , NageshN, LingaVG et al. Epistatic interactions between thiopurine methyltransferase (TPMT) and inosine triphosphate pyrophosphatase (ITPA) variations determine 6-mercaptopurine toxicity in Indian children with acute lymphoblastic leukemia. Eur. J. Clin. Pharmacol. 68(4) , 379–387 (2012).
  • Dorababu P , NaushadSM, KutalaVK, DigumartiR. Impact of age, gender and haplotypes of thiopurine methyltransferase (TPMT) and inosine triphosphate pyrophosphatase (ITPA) genes on 6-mercaptopurine toxicity in children with acute lymphoblastic leukemia. Eur. J. Clin. Pharmacol.68(5) , 885–886 (2012).
  • Scheuermann TH , KeelerC, HodsdonME. Consequences of binding an S-adenosyl methionine analogue on the structure and dynamics of the thiopurine methyltransferase protein backbone. Biochemistry43(38) , 12198–12209 (2004).
  • Tai HL , KrynetskiEY, SchuetzEG, YanishevskiY, EvansWE. Enhanced proteolysis of thiopurine S-methyltransferase (TPMT) encoded by mutant alleles in humans (TPMT*3A, TPMT*2): mechanisms for the genetic polymorphism of TPMT activity. Proc. Natl Acad. Sci. USA94(12) , 6444–6449 (1997).
  • Zaza G , CheokM, YangW et al. Gene expression and thioguanine nucleotide disposition in acute lymphoblastic leukemia after in vivo mercaptopurine treatment. Blood 106(5) , 1778–1785 (2005).
  • Karas-Kuzelicki N , JazbecJ, MilekM, Mlinaric-RascanI. Heterozygosity at the TPMT gene locus, augmented by mutated MTHFR gene, predisposes to 6-MP related toxicities in childhood ALL patients. Leukemia23(5) , 971–974 (2009).
  • Karas-Kuzelicki N , MilekM, Mlinaric-RascanI. MTHFR and TYMS genotypes influence TPMT activity and its differential modulation in males and females. Clin. Biochem.43(1–2) , 37–42 (2010).
  • Advani S , PaiS, VenzonD et al. Acute lymphoblastic leukemia in India: an analysis of prognostic factors using a single treatment regimen. Ann. Oncol. 10(2) , 167–176 (1999).
  • Mohammad NS , YedluriR, AddepalliP, GottumukkalaSR, DigumartiRR, KutalaVK. Aberrations in one-carbon metabolism induce oxidative DNA damage in sporadic breast cancer. Mol. Cell. Biochem.349(1–2) , 159–167 (2011).
  • Shimasaki N , MoriT, ToriiC et al. Influence of MTHFR and RFC1 polymorphisms on toxicities during maintenance chemotherapy for childhood acute lymphoblastic leukemia or lymphoma. J. Pediatr. Hematol. Oncol. 30(5) , 347–352 (2008).
  • Arenas M , SimpsonG, LewisCM et al. Genetic variation in the MTHFR gene influences thiopurine methyltransferase activity. Clin. Chem. 51(12) , 2371–2374 (2005).
  • Devlin AM , LingEH, PeersonJM et al. Glutamate carboxypeptidase II: a polymorphism associated with lower levels of serum folate and hyperhomocysteinemia. Hum. Mol. Genet. 9(19) , 2837–2844 (2000).
  • Divyya S , NaushadSM, AddlagattaA et al. Paradoxical role of C1561T glutamate carboxypeptidase II (GCPII) genetic polymorphism in altering disease susceptibility. Gene. 497(2) , 273–279 (2012).

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