{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T23:10:19Z","timestamp":1790896219644,"version":"4.1.0"},"reference-count":24,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2013,3,25]],"date-time":"2013-03-25T00:00:00Z","timestamp":1364169600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Br J Haematol"],"published-print":{"date-parts":[[2013,5]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>The <jats:italic><jats:styled-content style=\"fixed-case\">BCR<\/jats:styled-content>\/<jats:styled-content style=\"fixed-case\">ABL<\/jats:styled-content>1<\/jats:italic> fusion gene, usually carried by the <jats:styled-content style=\"fixed-case\">P<\/jats:styled-content>hiladelphia chromosome (<jats:styled-content style=\"fixed-case\">P<\/jats:styled-content>h) resulting from t(9;22)(q34;q11) or variants, is pathognomonic for chronic myeloid leukaemia (<jats:styled-content style=\"fixed-case\">CML<\/jats:styled-content>). It is also occasionally found in acute lymphoblastic leukaemia (<jats:styled-content style=\"fixed-case\">ALL<\/jats:styled-content>) mostly in adults and rarely in <jats:italic>de novo<\/jats:italic> acute myeloid leukaemia (<jats:styled-content style=\"fixed-case\">AML<\/jats:styled-content>). <jats:styled-content style=\"fixed-case\">A<\/jats:styled-content>rray <jats:styled-content style=\"fixed-case\">C<\/jats:styled-content>omparative <jats:styled-content style=\"fixed-case\">G<\/jats:styled-content>enomic <jats:styled-content style=\"fixed-case\">H<\/jats:styled-content>ybridization (<jats:styled-content style=\"fixed-case\">aCGH<\/jats:styled-content>) was used to study six <jats:styled-content style=\"fixed-case\">P<\/jats:styled-content>h(+)<jats:styled-content style=\"fixed-case\">AML<\/jats:styled-content>, three bi\u2010lineage and four <jats:styled-content style=\"fixed-case\">P<\/jats:styled-content>h(+)<jats:styled-content style=\"fixed-case\">ALL<\/jats:styled-content> searching for specific genomic profiles. Surprisingly, loss of the <jats:italic><jats:styled-content style=\"fixed-case\">IKZF<\/jats:styled-content>1<\/jats:italic> and\/or <jats:italic><jats:styled-content style=\"fixed-case\">CDKN<\/jats:styled-content>2<jats:styled-content style=\"fixed-case\">A<\/jats:styled-content><\/jats:italic> genes, the hallmark of <jats:styled-content style=\"fixed-case\">P<\/jats:styled-content>h(+)<jats:styled-content style=\"fixed-case\">ALL<\/jats:styled-content>, were recurrent findings in <jats:styled-content style=\"fixed-case\">P<\/jats:styled-content>h(+)<jats:styled-content style=\"fixed-case\">AML<\/jats:styled-content> and accompanied cryptic deletions within the immunoglobulin and T cell receptor genes. The latter two losses have been shown to be part of \u2018hot spot\u2019 genome imbalances associated with <jats:italic><jats:styled-content style=\"fixed-case\">BCR<\/jats:styled-content>\/<jats:styled-content style=\"fixed-case\">ABL<\/jats:styled-content>1<\/jats:italic> positive pre\u2010<jats:styled-content style=\"fixed-case\">B<\/jats:styled-content> lymphoid phenotype in <jats:styled-content style=\"fixed-case\">CML<\/jats:styled-content> and Ph(+)ALL. We applied Significance Analysis of Microarrays (SAM) to data from the \u2018hot spot\u2019 regions to the <jats:styled-content style=\"fixed-case\">P<\/jats:styled-content>h(+)<jats:styled-content style=\"fixed-case\">AML<\/jats:styled-content> and a further 40 <jats:italic><jats:styled-content style=\"fixed-case\">BCR<\/jats:styled-content>\/<jats:styled-content style=\"fixed-case\">ABL<\/jats:styled-content>1<\/jats:italic>(+) samples looking for differentiating features. After exclusion of the most dominant markers, <jats:styled-content style=\"fixed-case\">SAM<\/jats:styled-content> identified aberrations unique to <jats:italic>de novo <\/jats:italic><jats:styled-content style=\"fixed-case\">P<\/jats:styled-content>h(+)<jats:styled-content style=\"fixed-case\">AML<\/jats:styled-content> that involved relevant genes. While the biological and clinical significance of this specific genome signature remains to be uncovered, the unique loss within the immunoglobulin genes provides a simple test to enable the differentiation of clinically similar <jats:italic>de novo<\/jats:italic> Ph(+) <jats:styled-content style=\"fixed-case\">AML<\/jats:styled-content> and myeloid blast crisis of CML.<\/jats:p>","DOI":"10.1111\/bjh.12301","type":"journal-article","created":{"date-parts":[[2013,3,25]],"date-time":"2013-03-25T09:51:00Z","timestamp":1364205060000},"page":"541-550","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":74,"title":["Does <i><scp>BCR<\/scp>\/<scp>ABL<\/scp>1<\/i> positive Acute Myeloid Leukaemia Exist?"],"prefix":"10.1111","volume":"161","author":[{"given":"Ellie P.","family":"Nacheva","sequence":"first","affiliation":[{"name":"UCL Med School Royal Free Campus London 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