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共表达V-e16a2、V-e13a2、e13a2和e14a2融合转录本的慢性粒细胞白血病:一例报告并文献复习

Chronic myelogenous leukemia coexpressing V-e16a2, V-e13a2, e13a2, and e14a2 fusion transcripts: a case report and review of the literature.

作者信息

Xu Yang, Fan Yuying, Liu Sijin, Chang Jianmei, Guo Caifeng, Chen Lanhui, Guo Wenzheng, Dang Jinwen, Wang Hongwei, Tan Yanhong

机构信息

Institute of Hematology, The Second Hospital of Shanxi Medical University, Taiyuan, China.

出版信息

Front Oncol. 2024 Dec 12;14:1518387. doi: 10.3389/fonc.2024.1518387. eCollection 2024.

DOI:10.3389/fonc.2024.1518387
PMID:39735596
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11672779/
Abstract

The coexistence of three or more transcripts in one patient with chronic myeloid leukemia (CML) is rarely reported. Thus, the disease progression and drug response are still unknown. This case report aimed to explore the drug response of CML with variant transcripts and to enrich the clinical treatment of rare types of CML. A 66-year-old Chinese female patient was diagnosed with chronic myeloid leukemia-chronic phase (CML-CP) expressing four transcripts, including variant e16a2(V-e16a2), variant e13a2(V-e13a2), classical e13a2, and e14a2 transcripts. The patient was treated with flumatinib, a tyrosine kinase inhibitor (TKI).The variant transcripts reported exhibited a favorable response to TKI, and attention should be directed toward monitoring variant transcripts.

摘要

一名慢性髓性白血病(CML)患者体内同时存在三种或更多转录本的情况鲜有报道。因此,疾病进展和药物反应仍不明确。本病例报告旨在探讨具有变异转录本的CML的药物反应,并丰富罕见类型CML的临床治疗经验。一名66岁的中国女性患者被诊断为慢性髓性白血病慢性期(CML-CP),表达四种转录本,包括变异型e16a2(V-e16a2)、变异型e13a2(V-e13a2)、经典型e13a2和e14a2转录本。该患者接受了酪氨酸激酶抑制剂(TKI)氟马替尼治疗。报道的变异转录本对TKI表现出良好反应,应关注对变异转录本的监测。

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本文引用的文献

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A rare BCR-ABL1 transcript in chronic myeloid leukemia: Case report and literature review.慢性髓性白血病中罕见的 BCR-ABL1 转录本:病例报告及文献复习。
Leuk Res. 2023 Oct;133:107369. doi: 10.1016/j.leukres.2023.107369. Epub 2023 Aug 8.
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FISH-negative BCR::ABL1-positive e19a2 chronic myeloid leukaemia: the most cryptic of insertions.FISH 阴性 BCR::ABL1 阳性 e19a2 慢性髓性白血病:最隐匿的插入。
BMC Med Genomics. 2023 Jul 26;16(1):172. doi: 10.1186/s12920-023-01607-7.
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The Recurrent Atypical e8a2 BCR::ABL1 Transcript with Insertion of an Inverted 55 Base Pair ABL1 Intron 1b Sequence: A Detailed Molecular Analysis.
具有插入 55 个碱基对的倒位 ABL1 内含子 1b 序列的反复出现的非典型 e8a2 BCR::ABL1 转录本:详细的分子分析。
Acta Haematol. 2023;146(5):413-418. doi: 10.1159/000531128. Epub 2023 May 19.
4
Long-Term Molecular Remission after Treatment with Imatinib in a Chronic Myeloid Leukemia Patient with Extreme Thrombocytosis Harboring Rare e14a3 (b3a3) BCR::ABL1 Transcript: A Case Report.慢性髓性白血病伴极重度血小板增多症患者采用伊马替尼治疗后达到长期分子缓解:罕见 e14a3(b3a3)BCR::ABL1 转录本病例报告。
Curr Oncol. 2022 Oct 28;29(11):8171-8179. doi: 10.3390/curroncol29110645.
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Atypical presentation of patients with chronic myeloid leukemia in chronic phase-Case report.慢性期慢性髓性白血病患者的非典型表现——病例报告
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