title: [Detection of copy number variations in pediatric ETV6/RUNX1-positive acute lymphoblastic leukemia with multiplex ligation-dependent probe amplification].
abstract: OBJECTIVE
  To investigate the application of multiplex ligation-dependent probe amplification (MLPA) in the detection of copy number variations (CNVs) in pediatric ETV6/RUNX1-positive acute lymphoblastic leukemia (ALL), to compare this method with conventional karyotype analysis and fluorescence in situ hybridization (FISH), and to evaluate the value of MLPA.
  
  
  METHODS
  The clinical data of 95 children with ETV6/RUNX1-positive ALL who were treated from January 2006 to November 2012 were analyzed retrospectively, including clinical features, results of karyotype analysis, and results of FISH. CNVs were detected with MLPA.
  
  
  RESULTS
  CNVs were detected in 73 (77%), and the median number of CNVs was 1 (range 0-6). The CNVs of EBF1, CDKN2A/2B, PAX5, ETV6, RB1, and BTG1 were detected in more than 10% of all the patients. The changes in the chromosome segments carrying the genes with CNVs detected by MLPA were not detected by conventional karyotype analysis. The coincidence rate between the CNVs in ETV6 gene detected by FISH and those detected by MLPA was 66%.
  
  
  CONCLUSIONS
  MLPA is an efficient and convenient method to detect CNVs in children with 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. xfzhu1981@126.com.
authors.forename: Li
authors.initials: L
authors.lastname: Zhang
authors.forename: Xiao-Ming
authors.initials: XM
authors.lastname: Liu
authors.forename: Ye
authors.initials: Y
authors.lastname: Guo
authors.forename: Wen-Yu
authors.initials: WY
authors.lastname: Yang
authors.forename: Jia-Yuan
authors.initials: JY
authors.lastname: Zhang
authors.forename: Fang
authors.initials: F
authors.lastname: Liu
authors.forename: Tian-Feng
authors.initials: TF
authors.lastname: Liu
authors.forename: Shu-Chun
authors.initials: SC
authors.lastname: Wang
authors.forename: Xiao-Juan
authors.initials: XJ
authors.lastname: Chen
authors.forename: Min
authors.initials: M
authors.lastname: Ruan
authors.forename: Ben-Quan
authors.initials: BQ
authors.lastname: Qi
authors.forename: Li-Xian
authors.initials: LX
authors.lastname: Chang
authors.forename: Yao
authors.initials: Y
authors.lastname: Zou
authors.forename: Yu-Mei
authors.initials: YM
authors.lastname: Chen
authors.forename: Xiao-Fan
authors.initials: XF
authors.lastname: Zhu
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D050676:Core Binding Factor Alpha 2 Subunit / Q000032:analysis*; D056915:DNA Copy Number Variations; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008297:Male; D060885:Multiplex Polymerase Chain Reaction / Q000379:methods*; D015514:Oncogene Proteins, Fusion / Q000032:analysis*; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics*; D000097764:ETS Translocation Variant 6 Protein
chemical_list: D050676:Core Binding Factor Alpha 2 Subunit; D015514:Oncogene Proteins, Fusion; C102421:TEL-AML1 fusion protein; D000097764:ETS Translocation Variant 6 Protein