Center for Clinical Molecular Medicine, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Pediatrics, Chongqing International Science and Technology Cooperation Center for Child Development and Disorders, Children's Hospital of Chongqing Medical University, Chongqing, China.
Department of Clinical Laboratory, Key Laboratory of Pediatrics in Chongqing, Children's Hospital of Chongqing Medical University, Chongqing, China.
Genes Chromosomes Cancer. 2018 Aug;57(8):379-386. doi: 10.1002/gcc.22540.
Single nucleotide polymorphisms (SNPs) may influence the disease course and outcome of hematologic neoplasms. SNP rs2454206 is common in the TET2 gene, which plays a role in epigenetic regulation of myelopoiesis. Few investigations examined the role of TET2 SNP rs2454206 in acute myeloid leukemia (AML) and none of those studies was performed in Chinese populations. Here, we report the prevalence and clinical relevance of TET2 SNP rs2454206 in 254 Chinese patients with childhood AML. Our data demonstrate that TET2 SNP rs2454206 is associated with improved overall survival and event-free survival in AML patients with intermediate-risk cytogenetics features. The prognostic impact of TET2 SNP rs2454206 was independent of other common AML risk factors, such as age, white blood cell count, and FLT3-ITD. No difference in TET2 expression levels in AML with TET2 SNP rs2454206 and TET2 SNP rs2454206 was detected, indicating that TET2 SNP rs2454206 status does not affect TET2 expression in pediatric AML.
单核苷酸多态性（SNPs）可能影响血液系统恶性肿瘤的疾病进程和结局。SNP rs2454206 在 TET2 基因中很常见，该基因在骨髓细胞生成的表观遗传调控中发挥作用。很少有研究调查 TET2 SNP rs2454206 在急性髓细胞白血病（AML）中的作用，而且这些研究都没有在中国人群中进行。在这里，我们报告了 254 例中国儿童 AML 患者中 TET2 SNP rs2454206 的患病率和临床相关性。我们的数据表明，TET2 SNP rs2454206 与具有中间风险细胞遗传学特征的 AML 患者的总生存和无事件生存相关。TET2 SNP rs2454206 的预后影响独立于其他常见的 AML 危险因素，如年龄、白细胞计数和 FLT3-ITD。在 TET2 SNP rs2454206 和 TET2 SNP rs2454206 的 AML 中未检测到 TET2 表达水平的差异，表明 TET2 SNP rs2454206 状态不影响儿科 AML 中的 TET2 表达。
