{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T22:48:16Z","timestamp":1790635696413,"version":"4.1.0"},"reference-count":20,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2010,9,2]],"date-time":"2010-09-02T00:00:00Z","timestamp":1283385600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes Chromosomes &amp; Cancer"],"published-print":{"date-parts":[[2010,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Recent genomic studies have shown that copy number abnormalities (CNA) of genes involved in lymphoid differentiation and cell cycle control are common in B\u2010cell precursor acute lymphoblastic leukemia (BCP\u2010ALL). We have evaluated Multiplex Ligation\u2010dependent Probe Amplification (MLPA) on 43 BCP\u2010ALL patients for the detection of the most common deletions among these genes and compared the results to those obtained by fluorescence in situ hybridization (FISH) and genomic quantitative PCR (qPCR). There was good correlation between methods for <jats:italic>CDKN2A\/B, IKZF1,<\/jats:italic> and <jats:italic>PAX5<\/jats:italic> deletions in the majority of cases and MLPA confirmed the presence of deletions within the PAR1 region in two of three cases identified by FISH. Small intragenic aberrations detected by MLPA, which were below the resolution of FISH for <jats:italic>CDKN2A\/B<\/jats:italic> (<jats:italic>n<\/jats:italic> = 7), <jats:italic>IKZF1<\/jats:italic> (<jats:italic>n<\/jats:italic> = 3), and <jats:italic>PAX5<\/jats:italic> (<jats:italic>n<\/jats:italic> = 3) were confirmed by qPCR. MLPA and qPCR were unable to detect populations present at a low level (&lt;20%) by FISH. In addition, although MLPA identified the presence of a deletion, it was unable to discern the presence of mixed cell populations which had been identified by FISH: <jats:italic>CDKN2A\/B<\/jats:italic> (<jats:italic>n<\/jats:italic> = 3), <jats:italic>IKZF1<\/jats:italic> (<jats:italic>n<\/jats:italic> = 1), <jats:italic>PAX5<\/jats:italic> (<jats:italic>n<\/jats:italic> = 2), and PAR1 deletion (<jats:italic>n<\/jats:italic> = 1). Nevertheless, this study has demonstrated that MLPA is a robust technique for the reliable detection of CNA involving multiple targets in a single test and thus is ideal for rapid high throughput testing of large cohorts with a view to establishing incidence and prognostic significance. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/gcc.20818","type":"journal-article","created":{"date-parts":[[2010,9,3]],"date-time":"2010-09-03T19:33:28Z","timestamp":1283542408000},"page":"1104-1113","source":"Crossref","is-referenced-by-count":101,"title":["Evaluation of multiplex ligation\u2010dependent probe amplification as a method for the detection of copy number abnormalities in B\u2010cell precursor acute lymphoblastic leukemia"],"prefix":"10.1002","volume":"49","author":[{"given":"C. J.","family":"Schwab","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L. R.","family":"Jones","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Morrison","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S. L.","family":"Ryan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Yigittop","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. P.","family":"Schouten","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C. J.","family":"Harrison","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2010,9,2]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.2353\/jmoldx.2010.090046"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2008.07268.x"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/leu.2009.135"},{"key":"e_1_2_5_5_1","volume-title":"Cancer Cytogenetics Third Edition","author":"Harrison CJ","year":"2009"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2005.05497.x"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2009-09-245944"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2008-08-173963"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.leu.2404691"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/leu.2010.87"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2008.21.6408"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.469"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature05690"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature06866"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa0808253"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2009-03-208397"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gnf056"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cancergencyto.2009.06.020"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1210190"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-59745-188-8_7"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.pas.0000146701.98954.47"}],"container-title":["Genes, Chromosomes and Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fgcc.20818","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/gcc.20818","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,16]],"date-time":"2023-10-16T21:25:38Z","timestamp":1697491538000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/gcc.20818"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,9,2]]},"references-count":20,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2010,12]]}},"alternative-id":["10.1002\/gcc.20818"],"URL":"https:\/\/doi.org\/10.1002\/gcc.20818","archive":["Portico"],"relation":{},"ISSN":["1045-2257","1098-2264"],"issn-type":[{"value":"1045-2257","type":"print"},{"value":"1098-2264","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,9,2]]}}}