{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,10]],"date-time":"2026-01-10T18:59:11Z","timestamp":1768071551119,"version":"3.49.0"},"reference-count":30,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2018,3,25]],"date-time":"2018-03-25T00:00:00Z","timestamp":1521936000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Int J Lab Hematology"],"published-print":{"date-parts":[[2018,8]]},"abstract":"Abstract<\/jats:title>Introduction<\/jats:title>Recent clinical outcomes of pediatric Philadelphia chromosome\u2010positive acute lymphoblastic leukemia (Ph+ALL<\/jats:styled-content>) vastly improved owing to tyrosine kinase inhibitor (TKI<\/jats:styled-content>). However, the genetic status would be different in each case with ABL<\/jats:styled-content>1<\/jats:italic> gene mutation or copy number variants (CNV<\/jats:styled-content>s) such as IKZF<\/jats:styled-content>1<\/jats:italic> deletion. In particular, the TKI<\/jats:styled-content> resistant clone with ABL<\/jats:styled-content>1<\/jats:italic> kinase mutation remains problematic. The comprehensive assessment of genetic status including mutation, insertion and deletion (indel) and CNV<\/jats:styled-content>s is necessary.<\/jats:p><\/jats:sec>Methods<\/jats:title>We evaluated a next\u2010generation sequencing (NGS<\/jats:styled-content>)\u2010based customized HaloPlex target enrichment system panel to simultaneously detect coding mutations, indel and CNV<\/jats:styled-content>s. We analysed approximately 160 known genes associated with hematological disorders in 5 pediatric Ph+ALL<\/jats:styled-content> patients.<\/jats:p><\/jats:sec>Results<\/jats:title>Mono\u2010allelic IKZF<\/jats:styled-content>1<\/jats:italic> deletions were found in 4 patients at diagnosis. Furthermore, the mono\u2010allelic deletions were found in exons of RB<\/jats:styled-content>1<\/jats:italic>, EBF<\/jats:styled-content>1<\/jats:italic>, PAX<\/jats:styled-content>5<\/jats:italic> and ETV<\/jats:styled-content>6<\/jats:italic> genes. Bi\u2010allelic deletions were detected in CDKN<\/jats:styled-content>2A<\/jats:italic> and CDKN<\/jats:styled-content>2B<\/jats:italic> genes in 1 patient. ABL<\/jats:styled-content>1<\/jats:italic> mutation was also detected in 1 patient at relapse. These results were almost comparable with the results of the multiplex ligation\u2010dependent probe amplification (MLPA<\/jats:styled-content>) method or Sanger sequence.<\/jats:p><\/jats:sec>Conclusion<\/jats:title>Next\u2010generation sequencing\u2010based custom HaloPlex target enrichment system panel allows us to detect the coding mutations, indel, and CNV<\/jats:styled-content>s in pediatric Ph+ALL<\/jats:styled-content> simultaneously, and its results seem comparable with those of other methods.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ijlh.12805","type":"journal-article","created":{"date-parts":[[2018,3,25]],"date-time":"2018-03-25T17:43:15Z","timestamp":1521999795000},"page":"427-436","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Simultaneous detection of ABL<\/scp>1<\/i> mutation and IKZF<\/scp>1<\/i> deletion in Philadelphia chromosome\u2010positive acute lymphoblastic leukemia using a customized target enrichment system panel"],"prefix":"10.1111","volume":"40","author":[{"given":"M.","family":"Aoe","sequence":"first","affiliation":[{"name":"Division of Medical Support Okayama University Hospital Okayama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"Ishida","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Okayama University Hospital Okayama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.","family":"Matsubara","sequence":"additional","affiliation":[{"name":"Department of BioBank Okayama University Hospital Okayama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Karakawa","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Hiroshima University Hospital Hiroshima Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"Kawaguchi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Hiroshima 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