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一名既往患有原发性血小板增多症的患者出现伴有e13a3融合转录本的费城染色体阳性B细胞急性淋巴细胞白血病:病例报告及文献综述

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.

作者信息

Wu Ying, Cao Dan

机构信息

Department of Hematology, Huzhou Central Hospital, Fifth School of Clinical Medicine of Zhejiang Chinese Medical University, Huzhou, Zhejiang, China.

Department of Hematology, Huzhou Central Hospital, Affiliated Central Hospital of Huzhou University, Huzhou, Zhejiang, China.

出版信息

Front Oncol. 2025 May 1;15:1573893. doi: 10.3389/fonc.2025.1573893. eCollection 2025.

Abstract

Essential thrombocythemia (ET), a -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 (), Calreticulin (), or myeloproliferative leukemia virus oncogene (), 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.

摘要

原发性血小板增多症(ET)是一种JAK2阴性骨髓增殖性肿瘤(MPN),其特征为持续性血小板增多以及骨髓中巨核细胞过度增殖。在疾病过程中,4%的患者会进展为急性白血病,其中大多数为急性髓系白血病(AML),且已证实是由ET转化而来。转化为急性淋巴细胞白血病(ALL)极为罕见,仅有有限的证据阐明其与先前ET的克隆关系。我们报告一例66岁男性患者,有ET病史,无Janus激酶2(JAK2)、钙网蛋白(CALR)或骨髓增殖性白血病病毒癌基因(MPL)突变,随后发展为费城染色体(Ph)阳性B细胞ALL(B-ALL),携带一种罕见的e13a3融合转录本。在接受奥雷巴替尼、长春新碱和泼尼松的四个周期诱导治疗后,患者实现了完全血液学和分子缓解。在随访中,采用奥雷巴替尼和博纳吐单抗的无化疗巩固治疗维持了持续的完全分子缓解。据我们所知,这是首例在既往有ET的患者中出现伴有e13a3转录本的Ph阳性B-ALL病例,为管理类似病例提供了关键的治疗见解。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/10b8/12078142/55b92344dea9/fonc-15-1573893-g001.jpg

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