{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,15]],"date-time":"2025-08-15T02:31:28Z","timestamp":1755225088415,"version":"3.43.0"},"reference-count":12,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2025,8,13]],"date-time":"2025-08-13T00:00:00Z","timestamp":1755043200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Oncol."],"abstract":"<jats:p>The <jats:italic>BCR::ABL1<\/jats:italic> fusion gene, resulting from the Philadelphia (Ph) chromosome, is the defining feature of Chronic Myeloid Leukemia (CML). The fusion transcript typically results from the juxtaposition of <jats:italic>ABL1<\/jats:italic> exons 2 or 3 and <jats:italic>BCR<\/jats:italic> exons 1, 13, 14 or 19, while exons 6 and 8 are less frequently involved. Here, we report the first case of a translocation in a patient with newly diagnosed chronic-phase CML harboring a novel e4a2 <jats:italic>BCR::ABL1<\/jats:italic> fusion gene. This unique fusion includes a 298 bp insertion, derived from a <jats:italic>CSE1L<\/jats:italic> gene exons 9 and 10, at the fusion site. The patient showed resistance to first-line dasatinib but achieved a molecular response with the third-generation tyrosine kinase inhibitor ponatinib.<\/jats:p>","DOI":"10.3389\/fonc.2025.1596256","type":"journal-article","created":{"date-parts":[[2025,8,13]],"date-time":"2025-08-13T05:32:59Z","timestamp":1755063179000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Novel e4a2 BCR\u2237ABL1 transcript with insertion of CSE1L exons 9 and 10 in a CML patient: a case report"],"prefix":"10.3389","volume":"15","author":[{"given":"Sara","family":"Di Giusto","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eleonora","family":"Toffoletti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cinzia","family":"Cozzarolo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomas","family":"Liani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Moira","family":"Moro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Renato","family":"Fanin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniela","family":"Damiani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mario","family":"Tiribelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2025,8,13]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","DOI":"10.1038\/243290a0","article-title":"Letter: A new consistent chromosomal abnormality in chronic myelogenous leukaemia identified by quinacrine fluorescence and Giemsa staining","volume":"243","author":"Rowley","year":"1973","journal-title":"Nature"},{"key":"B2","doi-asserted-by":"publisher","first-page":"180","DOI":"10.1159\/000065655","article-title":"Cytogenetic and molecular genetic aspects of chronic myeloid leukaemia","volume":"108","author":"Barnes","year":"2002","journal-title":"Acta Haematol"},{"key":"B3","doi-asserted-by":"publisher","DOI":"10.1016\/j.hoc.2004.03.008","article-title":"Biology of chronic myelogenous leukemia\u2013signaling pathways of initiation and transformation","volume":"18","author":"Melo","year":"2004","journal-title":"Hematol Oncol Clin North Am"},{"key":"B4","doi-asserted-by":"publisher","first-page":"50","DOI":"10.1186\/s12885-019-5265-5","article-title":"A rare BCR-ABL1 transcript in Philadelphia-positive acute myeloid leukemia: case report and literature review","volume":"19","author":"Piedimonte","year":"2019","journal-title":"BMC Cancer"},{"key":"B5","doi-asserted-by":"publisher","DOI":"10.1016\/S1525-1578(10)60530-2","article-title":"Characterization of the different BCR-ABL transcripts with a single multiplex RT-PCR","volume":"6","author":"Chasseriau","year":"2004","journal-title":"J Mol Diagn"},{"key":"B6","doi-asserted-by":"publisher","DOI":"10.1038\/leu.2013.116","article-title":"Distribution of genomic breakpoints in chronic myeloid leukemia: analysis of 308 patients","volume":"27","author":"Ross","year":"2013","journal-title":"Leukemia"},{"key":"B7","doi-asserted-by":"publisher","DOI":"10.1007\/s13277-016-5301-x","article-title":"CAS (CSE1L) signaling pathway in tumor progression and its potential as a biomarker and target for targeted therapy","volume":"37","author":"Jiang","year":"2016","journal-title":"Tumour Biol"},{"key":"B8","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1080\/16078454.2022.2161201","article-title":"The role of CSE1L silencing in the regulation of proliferation and apoptosis via the AMPK\/mTOR signaling pathway in chronic myeloid leukemia","volume":"28","author":"Liu","year":"2023","journal-title":"Hematology"},{"key":"B9","doi-asserted-by":"publisher","DOI":"10.1038\/sj.leu.2401592","article-title":"Standardized RT-PCR analysis of fusion gene transcripts from chromosome aberrations in acute leukemia for detection of minimal residual disease. Report of the BIOMED-1 Concerted Action: investigation of minimal residual disease in acute leukemia","volume":"13","author":"van Dongen","year":"1999","journal-title":"Leukemia"},{"key":"B10","doi-asserted-by":"publisher","DOI":"10.3390\/molecules25184210","article-title":"Bcr-abl allosteric inhibitors: where we are and where we are going to","volume":"25","author":"Carofiglio","year":"2020","journal-title":"Molecules"},{"key":"B11","doi-asserted-by":"publisher","DOI":"10.1038\/s41375-020-0776-2","article-title":"European LeukemiaNet 2020 recommendations for treating chronic myeloid leukemia","volume":"34","author":"Hochhaus","year":"2020","journal-title":"Leukemia"},{"key":"B12","doi-asserted-by":"publisher","DOI":"10.1007\/s00432-021-03569-8","article-title":"Assessment of individual molecular response in chronic myeloid leukemia patients with atypical BCR-ABL1 fusion transcripts: recommendations by the EUTOS cooperative network","volume":"147","author":"Sch\u00e4fer","year":"2021","journal-title":"J Cancer Res Clin Oncol"}],"container-title":["Frontiers in Oncology"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fonc.2025.1596256\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,13]],"date-time":"2025-08-13T05:33:00Z","timestamp":1755063180000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fonc.2025.1596256\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,8,13]]},"references-count":12,"alternative-id":["10.3389\/fonc.2025.1596256"],"URL":"https:\/\/doi.org\/10.3389\/fonc.2025.1596256","relation":{},"ISSN":["2234-943X"],"issn-type":[{"value":"2234-943X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,8,13]]},"article-number":"1596256"}}