Chen Xi, Dou Hu, Wang Xingjuan, Huang Yi, Lu Ling, Bin Junqing, Su Yongchun, Zou Lin, Yu Jie, Bao Liming
a Center for Clinical Molecular Medicine , Children's Hospital of Chongqing Medical University , Chongqing , China.
b Ministry of Education Key Laboratory of Child Development and Disorders , Children's Hospital of Chongqing Medical University , Chongqing , China.
Leuk Lymphoma. 2018 Apr;59(4):829-836. doi: 10.1080/10428194.2017.1361025. Epub 2017 Aug 9.
The prevalence and clinical relevance of KIT mutations in childhood core-binding factor (CBF) acute myeloid leukemia (AML) have not been well characterized. In this study, a total of 212 children with de novo AML were enrolled from a Chinese population and 50 (23.5%) of the patients were deemed CBF-AML. KIT mutations were identified in 30% of the CBF-AML cohort. The KIT mutations were clustered in exon 17 and exon 8, and KIT mutations in exons 8 and 17 were correlated with a shorter overall survival (OS) (5-year OS: 30.0 ± 14.5% vs. 73.0 ± 8.5%, p = .007) and event-free survival (EFS) (5-year EFS: 30.0 ± 14.5% vs. 73.0 ± 8.5%, p = .003). Multivariate analysis revealed KIT mutations as an independent risk factor in CBF-AML. Our results suggest that KIT mutations are a molecular marker for an inferior prognosis in pediatric CBF-AML.
儿童核心结合因子（CBF）急性髓系白血病（AML）中KIT突变的患病率及其临床相关性尚未得到充分阐明。在本研究中，共纳入了212名来自中国人群的初发AML儿童患者，其中50名（23.5%）被诊断为CBF-AML。在30%的CBF-AML队列中检测到KIT突变。KIT突变集中在外显子17和外显子8，外显子8和17中的KIT突变与较短的总生存期（OS）相关（5年OS：30.0±14.5%对73.0± 8.5%，p = 0.007）以及无事件生存期（EFS）相关（5年EFS：30.0±14.5%对73.0±8.5%，p = 0.003）。多变量分析显示KIT突变是CBF-AML中的一个独立危险因素。我们的结果表明，KIT突变是儿童CBF-AML预后较差的一个分子标志物。
