title: Additional genetic risk factor for death in children with acute lymphoblastic leukemia: a common polymorphism of the MTHFR gene.
abstract: BACKGROUND
  The presence of metabolically important genetic polymorphisms may affect treatment efficacy in patients with malignancies. The objective of this prospective multicenter study was to evaluate the role of selected polymorphisms of genes associated with metabolism of chemotherapeutic drugs as prognostic markers in children with acute lymphoblastic leukemia.
  
  
  METHODS
  Genotyping for the presence of 7 genetic variants in 403 patients and analysis of death cases were performed.
  
  
  RESULTS
  Thirty-one children died before reaching remission maintenance phase. Genetic analysis revealed in this group increased frequency of homozygosity for c.677C>T polymorphism of the MTHFR gene (26% vs. 8% in the survivors; OR 4.09; 95% CI 1.67-10; adjusted for multiple testing P = 0.028).
  
  
  CONCLUSIONS
  Our data suggest that modification of anti-leukemic treatment should be considered in patients homozygous for c.677C>T polymorphism.
authors.affiliation: Chair of Pediatrics, Jagiellonian University, Krakow, Poland.
authors.forename: Jacek J
authors.initials: JJ
authors.lastname: Pietrzyk
authors.forename: Miroslaw
authors.initials: M
authors.lastname: Bik-Multanowski
authors.forename: Walentyna
authors.initials: W
authors.lastname: Balwierz
authors.forename: Szymon
authors.initials: S
authors.lastname: Skoczen
authors.forename: Dorota
authors.initials: D
authors.lastname: Wojcik
authors.forename: Alicja
authors.initials: A
authors.lastname: Chybicka
authors.forename: Barbara
authors.initials: B
authors.lastname: Sikorska-Fic
authors.forename: Michal
authors.initials: M
authors.lastname: Matysiak
authors.forename: Tomasz
authors.initials: T
authors.lastname: Szczepanski
authors.forename: Danuta
authors.initials: D
authors.lastname: Sonta-Jakimczyk
authors.forename: Anna
authors.initials: A
authors.lastname: Ploszynska
authors.forename: Anna
authors.initials: A
authors.lastname: Balcerska
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Mycko
authors.forename: Jerzy
authors.initials: J
authors.lastname: Bodalski
authors.forename: Maryna
authors.initials: M
authors.lastname: Krawczuk-Rybak
authors.forename: Jerzy
authors.initials: J
authors.lastname: Kowalczyk
authors.forename: Andrzej
authors.initials: A
authors.lastname: Koltan
authors.forename: Grazyna
authors.initials: G
authors.lastname: Sobol
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Derwich
authors.forename: Przemko
authors.initials: P
authors.lastname: Kwinta
mesh_terms: D045103:5,10-Methylenetetrahydrofolate Reductase (FADH2) / Q000235:genetics* / Q000378:metabolism; D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005260:Female; D005500:Follow-Up Studies; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D007223:Infant; D008297:Male; D011110:Polymorphism, Genetic / Q000235:genetics*; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000201:enzymology / Q000235:genetics* / Q000401:mortality*; D012307:Risk Factors
chemical_list: D045103:5,10-Methylenetetrahydrofolate Reductase (FADH2)