摘要
目的探讨ETV6/RUNXl阳性急性淋巴细胞性白血病(ALL)患儿基因拷贝数变异与临床特征及预后的相关性。方法回顾性分析2006年1月至2012年11月于中国医学科学院血液病医院就诊的141例ETV6/RUNXl阳性ALL患儿临床资料,并进行随访。应用多重连接探针扩增(MLPA)技术检测多个基因拷贝数变异的情况,探讨不同基因拷贝数变异的患儿的生存率。结果141例ETV6/RUNXl阳性的ALL患儿,其中男78例(55.3%)、女63例(44.7%),中位年龄4(1—13)岁,5年无复发生存率(RFS)为(85±4)%,无病生存率(DFS)为(844-4)%,5年总生存率(0s)为(85±4)%。95例患儿进行了MLPA检测,73例(76.8%)患儿检测到基因拷贝数的改变。拷贝数变异率超过10%的基因为EBF1(15.8%)、CDKN2A/2B(18.9%)、PAX5(21.1%)、ETV6(54.8%)、BTGl(10.5%)。95例患儿中,9例出现EBF1基因的缺失,80例EBF1基因正常,6例EBF1基因扩增,各组患儿5年无复发生存率(RFS)差异有统计学意义(χ2=9.809,P=0.007);13例出现PAX5基因的缺失,75例PAX5基因正常,7例PAX5基因扩增,各组患儿5年无复发生存率(RFS)差异有统计学意义(χ2=7.622,P=0.022);39例出现ETV6基因的缺失,43例E'IW6基因正常,13例ETV6基因扩增,各组患儿5年无复发生存率(RFS)差异有统计学意义(χ2=11.045,P=0.004)。结论基因拷贝数改变与ETV6/RUNXl阳性Au.的临床特征和预后有一定的相关性。EBF1扩增、PAX5扩增、ETV6扩增的患儿易发生复发。
Objective To evaluate the copy number variations (CNVs) in pediatric ETV6/RUNX1 gene positive acute lymphoblastic leukemia (ALL) and its correlation with clinical features and prognosis. Method Totally 141 children ( 〈 14 years of age) with newly diagnosed ETV6/RUNX1 positive ALL in Institute of Hematology and Blood Diseases Hospital, were included from January 2006 to November 2012. The CNVs were analyzed by multiplex ligation-dependent probe amplification (MLPA). The survival rate between the patients with CNVs were explored. Overall survival (OS) and event-free survival (EFS) were estimated by the Kaplan-Meier method and compared with the log-rank test. Result Among the 141 cases, 55.3% ( n = 78 ) were boys and 44. 7% ( n = 63 ) were girls and the median age was 4 ( 1 - 13 ) years. The estimated 5-year DFS rate for the patients was ( 84 ± 4) %. The estimated 5-year OS rate for the patients was (85 ±4)%. Ninety-five patients were tested MLPA. CNVs were detected in 73 cases (76. 8% ). CNVs of genes EBF1 (15.8%), CDKN2A/2B(18.9% ), PAXS(21.1% ), ETV6(54. 8% ), BTG1 (10. 5% ) were detected in more than 10% of the patients. Among the 95 patients, EBF1 deletions were found in 9 patients and EBF1 amplifications were found in 6 patients; 5-year recurrence-free survival (RFS) was statistically significant among 3 groups ( χ2 = 9. 809 ,P -- 0. 007 ) . PAX5 deletions were found in 13 patients and PAX5 amplifications were found in 7 patients; the difference in 5-year RFS was statistically significant between 3 groups( χ2 = 7. 622,P = 0. 022). ETV6 deletions were found in 39 patients and ETV6 amplifications were found in 13 patients; the difference in 5-year RFS was statistically significant among the 3 groups (χ2=11. 045 ,P = 0. 004). Conclusion The CNVs had prognostic re|evance in ETV6/RUNX1 positive ALL.
出处
《中华儿科杂志》
CAS
CSCD
北大核心
2016年第3期209-213,共5页
Chinese Journal of Pediatrics
基金
国家自然科学基金(81200396,81470339)
天津市科技支撑计划(12ZCDZSY18100)
天津市卫生计生委科技基金重点项目(2014KR12)
天津市疾病预防控制中心科技基金项目(CDCKY1406)