CASE REPORT article
Front. Oncol.
Sec. Hematologic Malignancies
Volume 15 - 2025 | doi: 10.3389/fonc.2025.1596256
Novel e4a2 BCR∷ABL1 Transcript with Insertion of CSE1L Exons 9 and 10 in a CML Patient: a Case Report
Provisionally accepted
Sara Di Giusto1
Eleonora Toffoletti1,2*
Cinzia Cozzarolo1Tomas Liani1Moira Moro1Renato Fanin1,2
Daniela Damiani1,2
Mario Tiribelli1,2- 1Division of Udine Hematology Clinic, Friuli Venezia Giulia University Hospital (ASU FC), Udine, Italy
- 2Department of Medicine, University of Udine, Udine, Italy
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The BCR::ABL1 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 ABL1 exons 2 or 3 and BCR exons 1, 13, 14 or 19, while exons 6 and 8 are less frequently involved. We Here, we report the first case of a translocation in a patient with newly diagnosed chronic-phase CML harboring a novel e4a2 BCR::ABL1 fusion gene. This unique fusion includes a 298 bp insertion, derived from a CSE1L gene exons 9 and 10, at the fusion site. The patient showed resistance to first-line dasatinib but achieved a molecular response with the thirdgeneration tyrosine kinase inhibitor ponatinib.
Keywords: Chronic myeloid leukemia1, Atypical Transcripts2, tyrosine kinase inhibitors4, outcome5, BCR::ABL1
Received: 19 Mar 2025; Accepted: 28 Jul 2025.
Copyright: © 2025 Di Giusto, Toffoletti, Cozzarolo, Liani, Moro, Fanin, Damiani and Tiribelli. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Eleonora Toffoletti, Division of Udine Hematology Clinic, Friuli Venezia Giulia University Hospital (ASU FC), Udine, 33100, Italy
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