<abstract xml:lang="en" xmlns="http://www.w3.org/1999/xhtml"><p>Leukemia is a hematological malignancy that involves bone marrow. Polymorphism of biotransformation genes plays an important role in primary childhood leukemia and affects the incidence and character of acute leukemia relapse. A biochip designed to assess some polymorphisms of biotransformation genes was used to determine the frequency of the polymorphic variants of <italic>CYP1A1, CYP2D6, GSTT1, GSTM1, MTHFR, MTRR, NQO1, CYP2C9, CYP2C19</italic> and <italic>NAT2</italic> in 332 children with acute lymphoblastic leukemia (ALL) and 71 children with acute myeloblastic leukemia (AML). The <italic>CYP1A1 *1/*2A, GSTT1</italic> non null and <italic>GSTM1</italic> non null genotypes were more frequent in patients with primary leukemia than in relapse. Analysis of the <italic>NAT2</italic> genotype frequency revealed a characteristic genotype for each type of leukemia, which prevailed in patients with relapse: the genotype <italic>341C/-, 481T/-, 590G/G, 857G/G</italic> prevailed in ALL patients with relapse, and the genotype <italic>341T/T, 481C/C, 590A/</italic>- in AML patients with relapse when compared with patients having primary ALL or AML, respectively. Thus, the polymorphisms of <italic>CYP1A1, GSTT1, GSTM1</italic> and <italic>NAT2</italic> genes can be considered as markers for risk of relapse in childhood acute leukemia and can be used for the prognosis and individualization of standard therapy.</p></abstract>

Leukemia is a hematological malignancy that involves bone marrow. Polymorphism of biotransformation genes plays an important role in primary childhood leukemia and affects the incidence and character of acute leukemia relapse. A biochip designed to assess some polymorphisms of biotransformation genes was used to determine the frequency of the polymorphic variants of CYP1A1, CYP2D6, GSTT1, GSTM1, MTHFR, MTRR, NQO1, CYP2C9, CYP2C19 and NAT2 in 332 children with acute lymphoblastic leukemia (ALL) and 71 children with acute myeloblastic leukemia (AML). The CYP1A1 *1/*2A, GSTT1 non null and GSTM1 non null genotypes were more frequent in patients with primary leukemia than in relapse. Analysis of the NAT2 genotype frequency revealed a characteristic genotype for each type of leukemia, which prevailed in patients with relapse: the genotype 341C/-, 481T/-, 590G/G, 857G/G prevailed in ALL patients with relapse, and the genotype 341T/T, 481C/C, 590A/- in AML patients with relapse when compared with patients having primary ALL or AML, respectively. Thus, the polymorphisms of CYP1A1, GSTT1, GSTM1 and NAT2 genes can be considered as markers for risk of relapse in childhood acute leukemia and can be used for the prognosis and individualization of standard therapy.

Polymorphism of Biotransformation Genes and Risk of Relapse in Childhood Acute Leukemia

Engelhardt Institute of Molecular Biology, Russian Academy of Sciences, Moscow, Russia

Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow, Russia

University of Miami Miller School of Medicine Institute for Human Genomics, Miami, Florida, USA

Research Institute of Pediatric Hematology, Russian Federation Ministry of Health and Social Development, Moscow, Russia

Balkan Journal of Medical Genetics

Leukemia is a hematological malignancy that involves bone marrow. Polymorphism of biotransformation genes plays an important role in primary childhood leukemia...

Polymorphism of Biotransformation Genes and Risk of Relapse in Childhood Acute Leukemia

Pubblicato online: 09 ott 2009

Pagine: 21 - 35

DOI: https://doi.org/10.2478/v10034-009-0008-6

Parole chiave
Childhood acute leukemia, Polymorphism, Predisposition, Relapse, Microarray

This content is open access.

Polymorphism of Biotransformation Genes and Risk of Relapse in Childhood Acute Leukemia

Pubblicato online: 09 ott 2009

Pagine: 21 - 35

DOI: https://doi.org/10.2478/v10034-009-0008-6

Parole chiaveChildhood acute leukemia, Polymorphism, Predisposition, Relapse, Microarray

This content is open access.

Parole chiave
Childhood acute leukemia, Polymorphism, Predisposition, Relapse, Microarray