MTHFR Gene Polymorphism and its Impact on Homocysteine Levels in Pediatric Burkitt Lymphoma Patients from Azerbaijan: Exploring Associations with the Folate Cycle
This study investigated the metabolic profile in children with Burkitt's lymphoma and MTHFR C677T polymorphism, with an emphasis on homocysteine and B vitamin levels. Among 67 patients, the heterozygous CT genotype was detected in 47.6% and the homozygous TT genotype in 10%, whereas among 20 healthy control subjects, these figures were 30% and 15%, respectively. Despite the higher frequency of the CT genotype in patients, no statistically significant difference was found (p=0.299). Patients had significantly elevated homocysteine levels (38.3 ± 2.89 μmol/L versus 14.8 ± 0.34 μmol/L in the control group). Vitamin B6 and B9 levels were significantly reduced and vitamin B12 levels were moderately reduced. ROC analysis showed high diagnostic value for homocysteine (AUC = 0.857), while vitamins B6, B9 and B12 had limited discriminatory power. These results indicate that the C677T polymorphism contributes to impaired one-carbon metabolism, with hyperhomocysteinemia and vitamin deficiency. Given the method of assessing antifolate activity, the MTHFR genotype may influence response to therapy and toxicity. This highlights the potential of genotype-guided nutritional support to improve outcomes in children with lymphoma.