Detection of copy number variations in pediatric ETV6/RUNX1-positive acute lymphoblastic leukemia with multiplex ligation-dependent probe amplification.
- Author:
Li ZHANG
1
;
Xiao-Ming LIU
;
Ye GUO
;
Wen-Yu YANG
;
Jia-Yuan ZHANG
;
Fang LIU
;
Tian-Feng LIU
;
Shu-Chun WANG
;
Xiao-Juan CHEN
;
Min RUAN
;
Ben-Quan QI
;
Li-Xian CHANG
;
Yao ZOU
;
Yu-Mei CHEN
;
Xiao-Fan ZHU
Author Information
- Publication Type:Journal Article
- MeSH: Adolescent; Child; Child, Preschool; Core Binding Factor Alpha 2 Subunit; analysis; DNA Copy Number Variations; Female; Humans; In Situ Hybridization, Fluorescence; Infant; Male; Multiplex Polymerase Chain Reaction; methods; Oncogene Proteins, Fusion; analysis; Precursor Cell Lymphoblastic Leukemia-Lymphoma; genetics
- From: Chinese Journal of Contemporary Pediatrics 2016;18(1):34-38
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo 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.
METHODSThe 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.
RESULTSCNVs 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%.
CONCLUSIONSMLPA is an efficient and convenient method to detect CNVs in children with ETV6/RUNX1-positive ALL.
