PMID- 26781410 OWN - NLM STAT- MEDLINE DCOM- 20160314 LR - 20231111 IS - 1008-8830 (Print) IS - 1008-8830 (Linking) VI - 18 IP - 1 DP - 2016 Jan TI - [Detection of copy number variations in pediatric ETV6/RUNX1-positive acute lymphoblastic leukemia with multiplex ligation-dependent probe amplification]. PG - 34-8 AB - 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. FAU - Zhang, Li AU - Zhang L AD - 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. FAU - Liu, Xiao-Ming AU - Liu XM FAU - Guo, Ye AU - Guo Y FAU - Yang, Wen-Yu AU - Yang WY FAU - Zhang, Jia-Yuan AU - Zhang JY FAU - Liu, Fang AU - Liu F FAU - Liu, Tian-Feng AU - Liu TF FAU - Wang, Shu-Chun AU - Wang SC FAU - Chen, Xiao-Juan AU - Chen XJ FAU - Ruan, Min AU - Ruan M FAU - Qi, Ben-Quan AU - Qi BQ FAU - Chang, Li-Xian AU - Chang LX FAU - Zou, Yao AU - Zou Y FAU - Chen, Yu-Mei AU - Chen YM FAU - Zhu, Xiao-Fan AU - Zhu XF LA - chi PT - English Abstract PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - China TA - Zhongguo Dang Dai Er Ke Za Zhi JT - Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics JID - 100909956 RN - 0 (Core Binding Factor Alpha 2 Subunit) RN - 0 (Oncogene Proteins, Fusion) RN - 0 (TEL-AML1 fusion protein) SB - IM MH - Adolescent MH - Child MH - Child, Preschool MH - Core Binding Factor Alpha 2 Subunit/*analysis MH - *DNA Copy Number Variations MH - Female MH - Humans MH - In Situ Hybridization, Fluorescence MH - Infant MH - Male MH - Multiplex Polymerase Chain Reaction/*methods MH - Oncogene Proteins, Fusion/*analysis MH - Precursor Cell Lymphoblastic Leukemia-Lymphoma/*genetics PMC - PMC7390102 EDAT- 2016/01/20 06:00 MHDA- 2016/03/15 06:00 PMCR- 2016/01/15 CRDT- 2016/01/20 06:00 PHST- 2016/01/20 06:00 [entrez] PHST- 2016/01/20 06:00 [pubmed] PHST- 2016/03/15 06:00 [medline] PHST- 2016/01/15 00:00 [pmc-release] AID - 10.7499/j.issn.1008-8830.2016.01.008 [pii] AID - zgddekzz-18-1-34 [pii] AID - 10.7499/j.issn.1008-8830.2016.01.008 [doi] PST - ppublish SO - Zhongguo Dang Dai Er Ke Za Zhi. 2016 Jan;18(1):34-8. doi: 10.7499/j.issn.1008-8830.2016.01.008.