文章：

CEBPA突变在儿童急性髓系白血病中的预后意义：日本儿童白血病/淋巴瘤研究组报告

Prognostic implications of CEBPA mutations in pediatric acute myeloid leukemia: a report from the Japanese Pediatric Leukemia/Lymphoma Study Group

原文发布日期：2014-07-11

DOI: 10.1038/bcj.2014.47

类型: Original Article

开放获取: 是

英文摘要：

CCAAT/enhancer-binding protein alpha (CEBPA) mutations are a favorable prognostic factor in adult acute myeloid leukemia (AML) patients; however, few studies have examined their significance in pediatric AML patients. Here we examined the CEBPA mutation status and clinical outcomes of pediatric AML patients treated in the AML-05 study. We found that 47 (14.9%) of the 315 evaluable patients harbored mutations in CEBPA; 26 cases (8.3%) harbored a single mutation (CEBPA-single) and 21 (6.7%) harbored double or triple mutations (CEBPA-double). After excluding core-binding factor-AML cases, patients harboring CEBPA mutations showed better overall survival (OS; P=0.048), but not event-free survival (EFS; P=0.051), than wild-type patients. Multivariate analysis identified CEBPA-single and CEBPA-double as independent favorable prognostic factors for EFS in the total cohort (hazard ratio (HR): 0.47 and 0.33; P=0.02 and 0.01, respectively). CEBPA-double was also an independent favorable prognostic factor for OS (HR: 0.30; P=0.04). CEBPA-double remained an independent favorable factor for EFS (HR: 0.28; P=0.04) in the normal karyotype cohort. These results suggest that CEBPA mutations, particularly CEBPA-double, are an independent favorable prognostic factor in pediatric AML patients, which will have important implications for risk-stratified therapy.

摘要翻译： 

CCAAT/增强子结合蛋白α（CEBPA）基因突变是成人急性髓系白血病（AML）患者的有利预后因素，但关于其在儿童AML患者中意义的研究较少。本研究通过分析AML-05研究中治疗的儿童AML患者，探讨CEBPA突变状态与临床结局的关系。在315例可评估患者中，47例（14.9%）携带CEBPA突变：26例（8.3%）为单突变（CEBPA-single），21例（6.7%）为双突变或三突变（CEBPA-double）。排除核心结合因子-AML病例后，与野生型患者相比，CEBPA突变患者的总生存期（OS；P=0.048）更优，但无事件生存期（EFS；P=0.051）未显示显著差异。多变量分析显示，在整体队列中CEBPA-single与CEBPA-double均为EFS的独立有利预后因素（风险比[HR]分别为0.47和0.33；P值分别为0.02和0.01）。CEBPA-double同时也是OS的独立有利预后因素（HR:0.30；P=0.04）。在正常核型队列中，CEBPA-double仍然是EFS的独立有利因素（HR:0.28；P=0.04）。这些结果表明CEBPA突变（特别是CEBPA-double）是儿童AML患者的独立有利预后因素，这对风险分层治疗具有重要意义。

原文链接：

Prognostic implications of CEBPA mutations in pediatric acute myeloid leukemia: a report from the Japanese Pediatric Leukemia/Lymphoma Study Group