{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T22:45:37Z","timestamp":1790635537880,"version":"4.1.0"},"reference-count":36,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2017,5,5]],"date-time":"2017-05-05T00:00:00Z","timestamp":1493942400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003243","name":"Ministry of Health of the Czech Republic","doi-asserted-by":"publisher","award":["AZV 15\u201030626A"],"award-info":[{"award-number":["AZV 15\u201030626A"]}],"id":[{"id":"10.13039\/501100003243","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007397","name":"Charles University","doi-asserted-by":"publisher","award":["Primus\/MED\/28"],"award-info":[{"award-number":["Primus\/MED\/28"]}],"id":[{"id":"10.13039\/100007397","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002803","name":"Fondazione Cariplo","doi-asserted-by":"publisher","award":["2011\u20100643"],"award-info":[{"award-number":["2011\u20100643"]}],"id":[{"id":"10.13039\/501100002803","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes Chromosomes &amp; Cancer"],"published-print":{"date-parts":[[2017,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We have shown previously that <jats:italic>ETV6\/RUNX1<\/jats:italic>\u2010positive acute lymphoblastic leukemia (ALL) is distinguishable from other ALL subtypes by CD27<jats:sup>pos<\/jats:sup>\/CD44<jats:sup>low\u2010neg<\/jats:sup> immunophenotype. During diagnostic immunophenotyping of 573 childhood B\u2010cell precursor ALL (BCP\u2010ALL), we identified eight cases with this immunophenotype among \u201cB\u2010other ALL\u201d (BCP\u2010ALL cases negative for routinely tested chromosomal\/genetic aberrations). We aimed to elucidate whether these cases belong to the recently described <jats:italic>ETV6\/RUNX1<\/jats:italic>\u2010like ALL defined by the <jats:italic>ETV6\/RUNX1<\/jats:italic>\u2010specific gene expression profile (GEP), harboring concurrent <jats:italic>ETV6<\/jats:italic> and <jats:italic>IKZF1<\/jats:italic> lesions. We performed comprehensive genomic analysis using single nucleotide polymorphism arrays, whole exome and transcriptome sequencing and GEP on microarrays. In unsupervised hierarchical clustering based on GEP, five out of seven analyzed CD27<jats:sup>pos<\/jats:sup>\/CD44<jats:sup>low\u2010neg<\/jats:sup> B\u2010other cases clustered with <jats:italic>ETV6\/RUNX1<\/jats:italic>\u2010positive ALL and were thus classified as <jats:italic>ETV6\/RUNX1<\/jats:italic>\u2010like ALL. The two cases clustering outside <jats:italic>ETV6\/RUNX1<\/jats:italic>\u2010positive ALL harbored a <jats:italic>P2RY8\/CRLF2<\/jats:italic> fusion with activating <jats:italic>JAK2<\/jats:italic> mutations and a <jats:italic>TCF3\/ZNF384<\/jats:italic> fusion, respectively, assigning them to other ALL subtypes. All five <jats:italic>ETV6\/RUNX1<\/jats:italic>\u2010like cases harbored <jats:italic>ETV6<\/jats:italic> deletions; uniform intragenic <jats:italic>ARPP21<\/jats:italic> deletions and various <jats:italic>IKZF1<\/jats:italic> lesions were each found in three <jats:italic>ETV6\/RUNX1<\/jats:italic>\u2010like cases. The frequency of <jats:italic>ETV6<\/jats:italic> and <jats:italic>ARPP21<\/jats:italic> deletions was significantly higher in <jats:italic>ETV6\/RUNX1<\/jats:italic>\u2010like ALL compared with a reference cohort of 42 B\u2010other ALL. In conclusion, we show that <jats:italic>ETV6\/RUNX1<\/jats:italic>\u2010like ALL is associated with CD27<jats:sup>pos<\/jats:sup>\/CD44<jats:sup>low\u2010neg<\/jats:sup> immunophenotype and identify <jats:italic>ARPP21<\/jats:italic> deletions to contribute to its specific genomic profile enriched for <jats:italic>ETV6<\/jats:italic> and <jats:italic>IKZF1<\/jats:italic> lesions. In conjunction with previously published data, our study identifies the <jats:italic>ETV6<\/jats:italic> lesion as the only common genetic aberration and thus the most likely key driver of <jats:italic>ETV6\/RUNX1<\/jats:italic>\u2010like ALL.<\/jats:p>","DOI":"10.1002\/gcc.22464","type":"journal-article","created":{"date-parts":[[2017,4,10]],"date-time":"2017-04-10T16:32:58Z","timestamp":1491841978000},"page":"608-616","source":"Crossref","is-referenced-by-count":79,"title":["<i>ETV6\/RUNX1<\/i>\u2010like acute lymphoblastic leukemia: A novel B\u2010cell precursor leukemia subtype associated with the CD27\/CD44 immunophenotype"],"prefix":"10.1002","volume":"56","author":[{"given":"Marketa","family":"Zaliova","sequence":"first","affiliation":[{"name":"CLIP\u2010Childhood Leukaemia Investigation Prague  Czech Republic"},{"name":"Department of Paediatric Haematology and Oncology Second Faculty of Medicine, Charles University Prague Czech Republic"},{"name":"University Hospital Motol 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