{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T15:21:17Z","timestamp":1753888877091,"version":"3.41.2"},"reference-count":20,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2024,11,25]],"date-time":"2024-11-25T00:00:00Z","timestamp":1732492800000},"content-version":"vor","delay-in-days":329,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Case Reports in Hematology"],"published-print":{"date-parts":[[2024,1]]},"abstract":"<jats:p>We describe the case of a chronic myeloid leukemia (CML) patient with a rare atypical e18a2 <jats:italic>BCR<\/jats:italic>::<jats:italic>ABL1<\/jats:italic> transcript. The generation of this transcript was explained by a detailed molecular analysis, including the identification of both chromosomal breakpoints (<jats:italic>BCR<\/jats:italic>::<jats:italic>ABL1<\/jats:italic> on der(22) and <jats:italic>ABL1<\/jats:italic>::<jats:italic>BCR<\/jats:italic> on der(9)) at the genomic level. The use of a cryptic splice site in intron 1 of <jats:italic>ABL1<\/jats:italic> led to the generation of an in\u2010frame <jats:italic>BCR<\/jats:italic>::<jats:italic>ABL1<\/jats:italic> fusion transcript. The diagnostic difficulties caused by this atypical variant and its implications for diagnostic routine are discussed.<\/jats:p>","DOI":"10.1155\/2024\/9439134","type":"journal-article","created":{"date-parts":[[2024,11,25]],"date-time":"2024-11-25T11:34:03Z","timestamp":1732534443000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Diagnostic Ambiguity Caused by an Atypical e18a2 <i>BCR<\/i>::<i>ABL1<\/i> Transcript in a Chronic Myeloid Leukemia Patient"],"prefix":"10.1155","volume":"2024","author":[{"ORCID":"https:\/\/orcid.org\/0009-0006-8600-1013","authenticated-orcid":false,"given":"Thomas","family":"Pretzsch","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-6671-7509","authenticated-orcid":false,"given":"Steve","family":"Progscha","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4843-2876","authenticated-orcid":false,"given":"Thomas","family":"Burmeister","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,11,25]]},"reference":[{"doi-asserted-by":"publisher","key":"e_1_2_11_1_2","DOI":"10.1038\/s41375-022-01613-1"},{"doi-asserted-by":"publisher","key":"e_1_2_11_2_2","DOI":"10.1038\/s41375-018-0341-4"},{"doi-asserted-by":"publisher","key":"e_1_2_11_3_2","DOI":"10.1111\/bjh.15453"},{"doi-asserted-by":"publisher","key":"e_1_2_11_4_2","DOI":"10.3324\/haematol.11737"},{"doi-asserted-by":"publisher","key":"e_1_2_11_5_2","DOI":"10.1038\/sj.leu.2404580"},{"doi-asserted-by":"publisher","key":"e_1_2_11_6_2","DOI":"10.3760\/cma.j.issn.0253-2727.2004.07.009"},{"doi-asserted-by":"publisher","key":"e_1_2_11_7_2","DOI":"10.1002\/gcc.22263"},{"doi-asserted-by":"publisher","key":"e_1_2_11_8_2","DOI":"10.3760\/cma.j.issn.0253-2727.2017.09.014"},{"key":"e_1_2_11_9_2","first-page":"545","article-title":"Clinical Analysis of 12 Cases of Acute Myeloid Leukemia With Ph Chromosome and BCR-ABL Positive","volume":"3","author":"Fei X. 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