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CASE REPORT article
Front. Oncol.
Sec. Hematologic Malignancies
Volume 15 - 2025 | doi: 10.3389/fonc.2025.1573893
Philadelphia chromosome-positive B-cell acute lymphoblastic leukemia with e13a3 fusion transcripts in a Patient with Pre-existing Essential Thrombocythemia: A Case Report and Literature Review
Provisionally accepted
Dan Cao *
Ying Wu - Huzhou Central Hospital, Huzhou, China
Essential thrombocythemia (ET) is ,a BCR-ABL1-negative myeloproliferative neoplasm(neoplasm (MPN) , is characterized by persistent thrombocytosis and excessive megakaryocytic proliferationproliferation of megakaryocytes in the bone marrow(marrow (BM). In the course of the disease, 4% of patients will progress to acute leukemia, majority of which are acute myeloid leukemia(leukemia (AML), and confirmed to be transformed from ET. Progression toTransformation to acute lymphoblastic leukemia(leukemia (ALL) is exceedingly rare, with limited evidence clarifying its clonal relationship to antecedent ET.rare, and lack evidence to determine whether it is related to the ET clone. We report a case of a 66-year-old patient male with a history of ET lacking mutations in Janus kinase 2 (JAK2), Calreticulin (CALR), or myeloproliferative leukemia virus oncogene (MPL),who subsequently developed philadelphiaPhiladelphia chromosome (Ph)-positive B-cell acute lymphoblastic leukemiaALL (B-ALL) with harboring a rare e13a3 fusion transcript. Following 4 cycles of induction therapy with olverembatinib, vincristine, and prednisone, the patient achieved complete hematologic and molecular remission.The patient received induction treatment with 4 cycles of olverembatinib in combination with vincristine and prednisone, achieving complete hematologic and molecular response. A chemotherapy-free consolidation treatment therapy with olverembatinib and blinatumomab maintained sustained complete molecular remission (CMR) at follow-up.was given and the patient sustained complete molecular remission (CMR) so far. To our knowledge, this represents is the first case of Ph-positive B-ALL with e13a3 transcripts arising in a patient with preexisting ET, providing critical therapeutic insights for managing similar cases.report that a patient with pre-existing ET developed Ph-positive ALL with e13a3 fusion transcripts and may provide treatment experience for similar patients.
Keywords: Essential thrombocythemia, philadelphiaPhiladelphia chromosome positive, Acute Lymphoblastic Leukemia, e13a3 fusion, olverembatinibfusion, Olverembatinib
Received: 10 Feb 2025; Accepted: 03 Apr 2025.
Copyright: © 2025 Cao and Wu. 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:
Dan Cao, Huzhou Central Hospital, Huzhou, China
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