{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,9]],"date-time":"2026-01-09T22:08:59Z","timestamp":1767996539681,"version":"3.49.0"},"reference-count":32,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2010,2,12]],"date-time":"2010-02-12T00:00:00Z","timestamp":1265932800000},"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":[[2010,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Reciprocal <jats:italic>RARA\u2010PML<\/jats:italic> transcripts are not detected in \u223c25% of patients with <jats:italic>PML\u2010RARA<\/jats:italic> positive acute promyelocytic leukemia (APL), but the reasons for this are poorly understood. We studied 21 <jats:italic>PML\u2010RARA<\/jats:italic> positive\/<jats:italic>RARA\u2010PML<\/jats:italic> negative cases by bubble PCR and multiplex long template PCR to identify the genomic breakpoints. Additional RT\u2010PCR analysis was performed based on the DNA findings. Three cases were found to have complex rearrangements involving a third locus: the first had a <jats:italic>PML\u2010CDC6\u2010RARA<\/jats:italic> forward DNA fusion and expressed a chimeric <jats:italic>PML\u2010CDC6\u2010RARA<\/jats:italic> mRNA in addition to a <jats:italic>PML\u2010RARA<\/jats:italic>. The other two had <jats:italic>HERC1\u2010PML<\/jats:italic> and <jats:italic>NT_009714.17\u2010PML<\/jats:italic> genomic fusion sequences at their respective reciprocal breakpoints. Six patients were falsely classified as <jats:italic>RARA\u2010PML<\/jats:italic> negative due to deletions on chromosome 15 and\/or 17, or alternative splicing leading to atypical <jats:italic>RARA\u2010PML<\/jats:italic> fusion transcripts, which were not identified by conventional RT\u2010PCR assays. This study demonstrates that the frequency of <jats:italic>RARA\u2010PML<\/jats:italic> expression has been underestimated and highlights remarkable complexity at chromosomal breakpoint regions in APL even in cases with an apparently simple balanced t(15;17)(q24;q12). \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/gcc.20757","type":"journal-article","created":{"date-parts":[[2010,2,12]],"date-time":"2010-02-12T18:03:37Z","timestamp":1265997817000},"page":"471-479","source":"Crossref","is-referenced-by-count":23,"title":["Atypical mRNA fusions in <i>PML\u2010RARA<\/i> positive, <i>RARA\u2010PML<\/i> negative acute promyelocytic leukemia"],"prefix":"10.1002","volume":"49","author":[{"given":"Christoph","family":"Walz","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Grimwade","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susanne","family":"Saussele","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eva","family":"Lengfelder","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudia","family":"Haferlach","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susanne","family":"Schnittger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marina","family":"Lafage\u2010Pochitaloff","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andreas","family":"Hochhaus","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicholas C. 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