急性淋巴细胞白血病患儿SLC19A1基因多态性与临床预后和甲氨蝶呤化疗毒性的相关性研究

Association between SLC19A1 genetic polymorphisms and clinical prognosis and toxicities of methotrexate chemotherapy in children with acute lymphoblastic leukemia

目的考察急性淋巴细胞白血病(ALL)患儿SLC19A1 rs1051296 G> T基因多态性对临床预后和甲氨蝶呤(MTX)化疗毒性的影响。方法收集134例ALL患儿的外周血,提取基因组DNA,采用基质辅助激光解吸电离飞行时间质谱(MALDI-TOF-MS)技术分析SLC19A1 rs1051296 G> T基因型。结果SLC19A1 rs1051296 TT基因型患儿的复发率(0)显著低于GG/GT基因型患儿(12. 50%),无事件生存率(94. 74%)显著高于GG/GT基因型患儿(80. 21%)。除了GG基因型患儿的血液毒性发生率(13. 79%)显著低于GT基因型患儿(38. 81%)以外,3种基因型之间的其余MTX化疗毒性发生率差异无统计学意义。结论 SLC19A1 rs1051296 G> T基因多态性与ALL患儿临床预后和MTX化疗的血液毒性显著相关。

Objective To investigate the association between SLC19 A1 rs1051296 G > T polymorphisms and clinical prognosis and toxicities of methotrexate( MTX) chemotherapy in children with acute lymphoblastic leukemia( ALL). Methods Peripheral blood samples were obtained from children with ALL( n = 134) to extract genome DNA. Matrix-Assisted Laser Desorption/Ionization Time of Flight Mass Spectrometry( MALDI-TOF-MS) was used to detect the genotypes of SLC19 A1 rs1051296 G > T polymorphisms. Results The relapse rate in children with SLC19 A1 rs1051296 TT genotype( 0) was significantly lower than those in GG/GT genotype carriers( 12. 50%). The event free survival( EFS) in patients with TT genotype( 94. 74%) was significantly higher than those in GG/GT genotype carriers( 80. 21%). The incidences of hematological disorders in children with GG genotype( 13. 79%) were significantly lower than those in GT genotype carriers( 38. 81%). There were no statistically significant differences in the incidences of other adverse events among three genotypes. Conclusion SLC19 A1 rs1051296 G > T polymorphisms were significantly associated with clinical prognosis of ALL children and hematological toxicities of MTX.