Clinical characteristics and gene expression profiles in children with ETV6-RUNX1 acute lymphoblastic leukemia
10.3760/cma.j.issn.0253-2727.2020.05.008
- VernacularTitle:ETV6-RUNX1阳性儿童急性淋巴细胞白血病基因表达谱聚类的临床特征
- Author:
Xueling ZHENG
1
;
Ziyang WANG
;
Yanran SUN
;
Han ZHANG
;
Chao GAO
;
Ruidong ZHANG
;
Yi LIU
;
Yaguang PENG
;
J. Jing-Dong HAN
;
Huyong ZHENG
Author Information
1. 国家儿童医学中心，首都医科大学附属北京儿童医院血液肿瘤中心，儿童血液病与肿瘤分子分型北京市重点实验室，儿科学国家重点学科，儿科重大疾病研究教育部重点实验室，北京 100045
- Keywords:
Child;
Leukemia, lymphoblastic, acute;
Gene expression profile;
Heterogeneity
- From:
Chinese Journal of Hematology
2020;41(5):405-411
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To evaluate the heterogeneity in pediatric ETV6-RUNX1 acute lymphoblastic leukemia (ALL) by gene expression profile and to study clinical characteristics in different clusters.Methods:An improved advanced fragment analysis (iAFA) technique was developed to detect 57 marker genes in 264 pediatric ALL patients treated in Beijing Children’s Hospital from August 2016 to June 2019. The 56 ALL patients with ETV6-RUNX1 positive were evaluated by clinical characteristics in gene expression profile, immunophenotype and early response of chemotherapy in different clusters.Results:The 56 ETV6-RUNX1-positive patients were clustered into 2 groups of E/R-1 (45, 80.4%) and E/R-2 (11, 19.6%) . Spearman coefficient was 0.788 and 0.901 in E/R-2 and E/R-1, respectively. The median of initial platelet counts was 104 (27-644) and 50 (8-390) ( P<0.01) in E/R-2 and E/R-1, respectively. The median of proportion of initial bone marrow immature cells was 0.830 (0.270-0.975) and 0.935 (0.445-0.990) ( P<0.05) in E/R-2 and E/R-1, respectively. The most specific immunophenotype at initial diagnosis, CD22 +CD34 +CD20 -CD117 -CD56 -, mainly gathered in E/R-2 ( P<0.001) . Patients negative of minimal residual disease detected by flow cytometry (MRD-FCM) at day 33 were 5 (55.6%) and 32 (88.9%) in E/R-2 and E/R-1, respectively. There was no significant difference in the original analysis ( P=0.064) but difference in sensitivity analysis ( P=0.035) . Nevertheless, patients negative of MRD detected by polymerase chain reaction (MRD-PCR) at day 33 were 7 (77.8%) and 36 (100%) in E/R-2 and E/R-1, respectively, with significant difference ( P=0.047) . Conclusion:Gene expression profile shows heterogeneous in ETV6-RUNX1 ALL, and the E/R-2 profile indicates that these patients may have a less tendency to thrombocytopenia at the initial diagnosis but have poorer response to induction chemotherapy and may influence further outcome.
