title: [Copy number variations in pediatric ETV6/RUNX1 positive acute lymphoblastic leukemia].
abstract: 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.
  
  
  METHODS
  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.
  
  
  RESULTS
  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%), PAX5(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 (χ(2)=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(χ(2)=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 (χ(2)=11.045, P=0.004).
  
  
  CONCLUSIONS
  The CNVs had prognostic relevance in ETV6/RUNX1 positive ALL.
authors.affiliation: Department of Pediatrics, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin 300020, China.
authors.forename: Yao
authors.initials: Y
authors.lastname: Zou
authors.forename: Li
authors.initials: L
authors.lastname: Zhang
authors.forename: Xiaoming
authors.initials: X
authors.lastname: Liu
authors.forename: Ye
authors.initials: Y
authors.lastname: Guo
authors.forename: Wenyu
authors.initials: W
authors.lastname: Yang
authors.forename: Jiayuan
authors.initials: J
authors.lastname: Zhang
authors.forename: Fang
authors.initials: F
authors.lastname: Liu
authors.forename: Tianfeng
authors.initials: T
authors.lastname: Liu
authors.forename: Shuchun
authors.initials: S
authors.lastname: Wang
authors.forename: Xiaojuan
authors.initials: X
authors.lastname: Chen
authors.forename: Min
authors.initials: M
authors.lastname: Ruan
authors.forename: Benquan
authors.initials: B
authors.lastname: Qi
authors.forename: Lixian
authors.initials: L
authors.lastname: Chang
authors.forename: Yumei
authors.initials: Y
authors.lastname: Chen
authors.forename: Xiaofan
authors.initials: X
authors.lastname: Zhu
mesh_terms: D000293:Adolescent; D002648:Child; D050676:Core Binding Factor Alpha 2 Subunit; D056915:DNA Copy Number Variations; D018572:Disease-Free Survival; D006801:Humans; D060885:Multiplex Polymerase Chain Reaction; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma; D011379:Prognosis; D050783:Proto-Oncogene Proteins c-ets; D012097:Repressor Proteins; D015996:Survival Rate; D000097764:ETS Translocation Variant 6 Protein
chemical_list: D050676:Core Binding Factor Alpha 2 Subunit; D050783:Proto-Oncogene Proteins c-ets; D012097:Repressor Proteins; D000097764:ETS Translocation Variant 6 Protein; C493728:RUNX1 protein, human