Detection of copy number variations in pediatric ETV6/RUNX1-positive acute lymphoblastic leukemia with multiplex ligation-dependent probe amplification
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 hybrid...
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| Veröffentlicht in: | Zhongguo dang dai er ke za zhi 2016-01, Vol.18 (1), p.34-38 |
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| creator | Zhang, Li Liu, Xiao-Ming Guo, Ye Yang, Wen-Yu Zhang, Jia-Yuan Liu, Fang Liu, Tian-Feng Wang, Shu-Chun Chen, Xiao-Juan Ruan, Min Qi, Ben-Quan Chang, Li-Xian Zou, Yao Chen, Yu-Mei Zhu, Xiao-Fan |
| description | 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.
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.
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 |
| doi_str_mv | 10.7499/j.issn.1008-8830.2016.01.008 |
| format | Article |
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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.
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</description><identifier>ISSN: 1008-8830</identifier><identifier>DOI: 10.7499/j.issn.1008-8830.2016.01.008</identifier><identifier>PMID: 26781410</identifier><language>chi</language><publisher>China</publisher><subject>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</subject><ispartof>Zhongguo dang dai er ke za zhi, 2016-01, Vol.18 (1), p.34-38</ispartof><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27903,27904</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/26781410$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Zhang, Li</creatorcontrib><creatorcontrib>Liu, Xiao-Ming</creatorcontrib><creatorcontrib>Guo, Ye</creatorcontrib><creatorcontrib>Yang, Wen-Yu</creatorcontrib><creatorcontrib>Zhang, Jia-Yuan</creatorcontrib><creatorcontrib>Liu, Fang</creatorcontrib><creatorcontrib>Liu, Tian-Feng</creatorcontrib><creatorcontrib>Wang, Shu-Chun</creatorcontrib><creatorcontrib>Chen, Xiao-Juan</creatorcontrib><creatorcontrib>Ruan, Min</creatorcontrib><creatorcontrib>Qi, Ben-Quan</creatorcontrib><creatorcontrib>Chang, Li-Xian</creatorcontrib><creatorcontrib>Zou, Yao</creatorcontrib><creatorcontrib>Chen, Yu-Mei</creatorcontrib><creatorcontrib>Zhu, Xiao-Fan</creatorcontrib><title>Detection of copy number variations in pediatric ETV6/RUNX1-positive acute lymphoblastic leukemia with multiplex ligation-dependent probe amplification</title><title>Zhongguo dang dai er ke za zhi</title><addtitle>Zhongguo Dang Dai Er Ke Za Zhi</addtitle><description>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.
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.
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</description><subject>Adolescent</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Core Binding Factor Alpha 2 Subunit - analysis</subject><subject>DNA Copy Number Variations</subject><subject>Female</subject><subject>Humans</subject><subject>In Situ Hybridization, Fluorescence</subject><subject>Infant</subject><subject>Male</subject><subject>Multiplex Polymerase Chain Reaction - methods</subject><subject>Oncogene Proteins, Fusion - analysis</subject><subject>Precursor Cell Lymphoblastic Leukemia-Lymphoma - genetics</subject><issn>1008-8830</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2016</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNo9kLtOwzAUhj2AaCm8AvLAwJLUjkPijKiUi1SBhFrEVtnOMXVxEhM7hT4Jr0sohenov-jT0Y_QOSVxnhbFeB0b7-uYEsIjzhmJE0KzmNC4Nw7Q8N8foGPv14Rc8rRgR2iQZDmnKSVD9HUNAVQwTY0bjVXjtrjuKgkt3ojWiJ_AY1NjB2WvWqPwdP6cjZ8WDy80co03wWwAC9UFwHZbuVUjrfCh71no3qAyAn-YsMJVZ4NxFj6xNa87bFSCg7qEOmDXNrKHVM4abdQuPUGHWlgPp_s7Qoub6XxyF80eb-8nV7PI0SQLUalLXZSKUa61TECUuZaCKK5y3e9DeZrRNGVAC8FzJrlKSZGnQspMZVpowtgIXfxy-x_eO_BhWRmvwFpRQ9P5Jc0zUvSjsqKvnu2rnaygXLrWVKLdLv_GZN_sPXyR</recordid><startdate>201601</startdate><enddate>201601</enddate><creator>Zhang, Li</creator><creator>Liu, Xiao-Ming</creator><creator>Guo, Ye</creator><creator>Yang, Wen-Yu</creator><creator>Zhang, Jia-Yuan</creator><creator>Liu, Fang</creator><creator>Liu, Tian-Feng</creator><creator>Wang, Shu-Chun</creator><creator>Chen, Xiao-Juan</creator><creator>Ruan, Min</creator><creator>Qi, Ben-Quan</creator><creator>Chang, Li-Xian</creator><creator>Zou, Yao</creator><creator>Chen, Yu-Mei</creator><creator>Zhu, Xiao-Fan</creator><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>7X8</scope></search><sort><creationdate>201601</creationdate><title>Detection of copy number variations in pediatric ETV6/RUNX1-positive acute lymphoblastic leukemia with multiplex ligation-dependent probe amplification</title><author>Zhang, Li ; Liu, Xiao-Ming ; Guo, Ye ; Yang, Wen-Yu ; Zhang, Jia-Yuan ; Liu, Fang ; Liu, Tian-Feng ; Wang, Shu-Chun ; Chen, Xiao-Juan ; Ruan, Min ; Qi, Ben-Quan ; Chang, Li-Xian ; Zou, Yao ; Chen, Yu-Mei ; Zhu, Xiao-Fan</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-p126t-dfdf9dc318ffb2ead7fba0c8c7f49918461443e19a873b8c40974abb6c6faf033</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>chi</language><creationdate>2016</creationdate><topic>Adolescent</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Core Binding Factor Alpha 2 Subunit - analysis</topic><topic>DNA Copy Number Variations</topic><topic>Female</topic><topic>Humans</topic><topic>In Situ Hybridization, Fluorescence</topic><topic>Infant</topic><topic>Male</topic><topic>Multiplex Polymerase Chain Reaction - methods</topic><topic>Oncogene Proteins, Fusion - analysis</topic><topic>Precursor Cell Lymphoblastic Leukemia-Lymphoma - genetics</topic><toplevel>online_resources</toplevel><creatorcontrib>Zhang, Li</creatorcontrib><creatorcontrib>Liu, Xiao-Ming</creatorcontrib><creatorcontrib>Guo, Ye</creatorcontrib><creatorcontrib>Yang, Wen-Yu</creatorcontrib><creatorcontrib>Zhang, Jia-Yuan</creatorcontrib><creatorcontrib>Liu, Fang</creatorcontrib><creatorcontrib>Liu, Tian-Feng</creatorcontrib><creatorcontrib>Wang, Shu-Chun</creatorcontrib><creatorcontrib>Chen, Xiao-Juan</creatorcontrib><creatorcontrib>Ruan, Min</creatorcontrib><creatorcontrib>Qi, Ben-Quan</creatorcontrib><creatorcontrib>Chang, Li-Xian</creatorcontrib><creatorcontrib>Zou, Yao</creatorcontrib><creatorcontrib>Chen, Yu-Mei</creatorcontrib><creatorcontrib>Zhu, Xiao-Fan</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>MEDLINE - Academic</collection><jtitle>Zhongguo dang dai er ke za zhi</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Zhang, Li</au><au>Liu, Xiao-Ming</au><au>Guo, Ye</au><au>Yang, Wen-Yu</au><au>Zhang, Jia-Yuan</au><au>Liu, Fang</au><au>Liu, Tian-Feng</au><au>Wang, Shu-Chun</au><au>Chen, Xiao-Juan</au><au>Ruan, Min</au><au>Qi, Ben-Quan</au><au>Chang, Li-Xian</au><au>Zou, Yao</au><au>Chen, Yu-Mei</au><au>Zhu, Xiao-Fan</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Detection of copy number variations in pediatric ETV6/RUNX1-positive acute lymphoblastic leukemia with multiplex ligation-dependent probe amplification</atitle><jtitle>Zhongguo dang dai er ke za zhi</jtitle><addtitle>Zhongguo Dang Dai Er Ke Za Zhi</addtitle><date>2016-01</date><risdate>2016</risdate><volume>18</volume><issue>1</issue><spage>34</spage><epage>38</epage><pages>34-38</pages><issn>1008-8830</issn><abstract>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.
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.
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</abstract><cop>China</cop><pmid>26781410</pmid><doi>10.7499/j.issn.1008-8830.2016.01.008</doi><tpages>5</tpages></addata></record> |
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| source | MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; PubMed Central |
| subjects | 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 |
| title | Detection of copy number variations in pediatric ETV6/RUNX1-positive acute lymphoblastic leukemia with multiplex ligation-dependent probe amplification |
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