Pharmacogenetics of the Central Nervous System—Toxicity and Relapse Affecting the CNS in Pediatric Acute Lymphoblastic Leukemia

Despite improving cure rates in childhood acute lymphoblastic leukemia (ALL), therapeutic side effects and relapse are ongoing challenges. These can also affect the central nervous system (CNS). Our aim was to identify germline gene polymorphisms that influence risk of CNS events. Sixty single nucleotide (SNPs) 20 genes were genotyped a Hungarian non-matched ALL cohort 36 cases with chemotherapy related toxic encephalopathy (ATE) 544 controls. Five significant SNPs further analyzed an extended Austrian-Czech-NOPHO (n = 107 cases, n 211 controls) but none associations could be validated. Overall populations including all nations’ matched cohorts for ATE 426) seizure subgroup 133) posterior reversible syndrome (PRES, 251) analyzed, as well. We found patients ABCB1 rs1045642, rs1128503 or rs2032582 TT genotypes more prone have seizures those rs1045642 developed PRES less frequently. The same examined relation on case-control 320 from groups. Those CC GG showed higher incidence relapse. results suggest blood-brain-barrier drug transporter gene-polymorphisms might inverse association