Górniak Patryk, Pastorczak Agata, Zalewska-Szewczyk Beata, Lejman Monika, Trelińska Joanna, Chmielewska Marta, Sokół-Jeżewska Agnieszka, Kowalczyk Jerzy, Szczepanski Tomasz, Matysiak Michał, Kazanowska Bernarda, Mlynarski Wojciech
Department of Pediatrics, Hematology, Oncology and Diabetology, Medical University of Lodz , Poland.
Leuk Lymphoma. 2014 Sep;55(9):2174-8. doi: 10.3109/10428194.2013.866661. Epub 2014 Apr 2.
Acute lymphoblastic leukemia (ALL) is the most common childhood cancer, characterized by a peak of incidence between 2 and 5 years. Since recently conducted genome-wide association (GWA) studies revealed that the common low-penetrance susceptibility allele at 7p12.2 (IKZF1 gene) confers an increased risk of pediatric ALL, we investigated whether the risk allele at rs4132601 also coexists with well-established prognostic factors, among 508 Polish pediatric patients with newly diagnosed ALL. Additionally, to verify whether the risk allele is favored by somatic tumor evolution, we examined the incidence of IKZF1 deletions in leukemic clones derived from 153 previously genotyped cases of pediatric ALL. Results of the analysis provide statistically significant support for an association between the rs4132601 polymorphic site and age at diagnosis of childhood ALL (p = 0.04). No association between allele variant and occurrence of IKZF1 deletions was found. These data provide further evidence of a biological role of gene variants in the development of ALL.
急性淋巴细胞白血病（ALL）是最常见的儿童癌症，其发病率在2至5岁之间达到峰值。由于最近进行的全基因组关联（GWA）研究表明，7p12.2（IKZF1基因）处常见的低 penetrance 易感性等位基因会增加儿童ALL的风险，我们在508名新诊断为ALL的波兰儿科患者中调查了rs4132601处的风险等位基因是否也与已确立的预后因素共存。此外，为了验证风险等位基因是否受体细胞肿瘤进化的青睐，我们检查了来自153例先前基因分型的儿科ALL病例的白血病克隆中IKZF1缺失的发生率。分析结果为rs4132601多态性位点与儿童ALL诊断年龄之间的关联提供了具有统计学意义的支持（p = 0.04）。未发现等位基因变体与IKZF1缺失的发生之间存在关联。这些数据为基因变体在ALL发生发展中的生物学作用提供了进一步的证据。
