{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T16:12:02Z","timestamp":1753891922668,"version":"3.41.2"},"reference-count":28,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2025,5,1]],"date-time":"2025-05-01T00:00:00Z","timestamp":1746057600000},"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>Essential thrombocythemia (ET), a <jats:italic>BCR-ABL1<\/jats:italic>-negative myeloproliferative neoplasm (MPN), is characterized by persistent thrombocytosis and excessive megakaryocytic proliferation in the bone marrow. During the course of the disease, 4% of patients progress to acute leukemia, the majority of which have acute myeloid leukemia (AML), and are confirmed to be transformed from ET. Transformation to acute lymphoblastic leukemia (ALL) is exceedingly rare, with limited evidence clarifying its clonal relationship to antecedent ET. We report a case of a 66-year-old man with a history of ET, lacking mutations in Janus kinase 2 (<jats:italic>JAK2<\/jats:italic>), Calreticulin (<jats:italic>CALR<\/jats:italic>), or myeloproliferative leukemia virus oncogene (<jats:italic>MPL<\/jats:italic>), who subsequently developed Philadelphia chromosome (Ph)-positive B-cell ALL (B-ALL), harboring a rare e13a3 fusion transcript. Following four cycles of induction therapy with olverembatinib, vincristine, and prednisone, the patient achieved complete hematologic and molecular remission. A chemotherapy-free consolidation therapy with olverembatinib and blinatumomab maintained sustained complete molecular remission at follow-up. To our knowledge, this represents 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.<\/jats:p>","DOI":"10.3389\/fonc.2025.1573893","type":"journal-article","created":{"date-parts":[[2025,5,1]],"date-time":"2025-05-01T04:15:04Z","timestamp":1746072904000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["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"],"prefix":"10.3389","volume":"15","author":[{"given":"Ying","family":"Wu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dan","family":"Cao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2025,5,1]]},"reference":[{"key":"B1","first-page":"76","article-title":"A review of essential thrombocythemia and its complications","volume":"21","author":"Babakhanlou","year":"2023","journal-title":"Clin Adv Hematol Oncol"},{"key":"B2","doi-asserted-by":"publisher","first-page":"2507","DOI":"10.1182\/blood-2014-05-579136","article-title":"Long-term survival and blast transformation in molecularly annotated essential thrombocythemia, polycythemia vera, and myelofibrosis","volume":"124","author":"Tefferi","year":"2014","journal-title":"Blood"},{"key":"B3","doi-asserted-by":"publisher","DOI":"10.1182\/blood.2022017625","article-title":"Essential thrombocythemia: challenges in clinical practice and future prospects","volume":"141","author":"Godfrey","year":"2023","journal-title":"Blood"},{"key":"B4","doi-asserted-by":"publisher","DOI":"10.1016\/j.blre.2020.100714","article-title":"Current management strategies for polycythemia vera and essential thrombocythemia","volume":"42","author":"Guglielmelli","year":"2020","journal-title":"Blood Rev"},{"key":"B5","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2005-12-013748","article-title":"Mutation of JAK2 in the myeloproliferative disorders: timing, clonality studies, cytogenetic associations, and role in leukemic transformation","volume":"108","author":"Campbell","year":"2006","journal-title":"Blood"},{"key":"B6","doi-asserted-by":"publisher","DOI":"10.1111\/bjh.19010","article-title":"Updates on accelerated and blast phase myeloproliferative neoplasms: Are we making progress","volume":"203","author":"Mahdi","year":"2023","journal-title":"Br J Haematol"},{"key":"B7","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.26008","article-title":"Polycythemia vera and essential thrombocythemia: 2021 update on diagnosis, risk-stratification and management","volume":"95","author":"Tefferi","year":"2020","journal-title":"Am J Hematol"},{"key":"B8","doi-asserted-by":"publisher","first-page":"697","DOI":"10.1002\/ajh.27216","article-title":"Essential thrombocythemia: 2024 update on diagnosis, risk stratification, and management","volume":"99","author":"Tefferi","year":"2024","journal-title":"Am J Hematol"},{"key":"B9","doi-asserted-by":"publisher","first-page":"10","DOI":"10.1038\/s41408-023-00968-7","article-title":"One thousand patients with ET: the florence-CRIMM series","volume":"14","author":"Loscocco","year":"2024","journal-title":"Blood Cancer J"},{"key":"B10","doi-asserted-by":"publisher","DOI":"10.1136\/jcp.39.12.1296","article-title":"Acute transformation of essential thrombocythemia: report of two cases","volume":"39","author":"O\u2019Hea","year":"1986","journal-title":"J Clin Pathol"},{"key":"B11","doi-asserted-by":"publisher","DOI":"10.3109\/10428199609051630","article-title":"Transformation of essential thrombocythaemia to T cell acute lymphoblastic leukemia","volume":"20","author":"Berkahn","year":"1996","journal-title":"Leuk Lymphoma"},{"key":"B12","doi-asserted-by":"publisher","DOI":"10.1186\/2162-3619-3-6","article-title":"A case of minor BCR-ABL1 positive acute lymphoblastic leukemia following essential thrombocythemia and originating from a clone distinct from that harboring the JAK2-V617F mutation","volume":"3","author":"Nagai","year":"2014","journal-title":"Exp Hematol Oncol"},{"key":"B13","doi-asserted-by":"publisher","DOI":"10.1080\/09537104.2021.2007871","article-title":"Philadelphia-positive acute lymphoblastic leukemia in a case of MPL p.(W515L) variant essential thrombocythemia: case report and literature review","volume":"33","author":"Ma","year":"2022","journal-title":"Platelets"},{"key":"B14","doi-asserted-by":"publisher","DOI":"10.1016\/j.cancergen.2017.10.001","article-title":"B-cell acute lymphoblastic leukemia with +der (1)t(1;19) (p13; 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