| 摘要: |
| ［摘要］ 伴TP53基因突变的骨髓增殖性肿瘤（MPNs）向白血病转化的风险较高，在疾病进展过程中表现出反复的拷贝数变异和DNA损伤特征，且在JAK2V617F突变背景下呈现出独特的红系偏倚分化。研究表明，巨核-红祖细胞中BMP2/SMAD信号通路的激活及CEBPA/GATA1表达比例的改变是其重要的分子机制。TP53基因的完全失活及达到一定的突变负荷是其发生白血病转化的必要条件。慢性炎症和免疫逃逸可能是伴TP53基因突变细胞获得优势克隆的关键驱动因素。该文对伴TP53基因突变的MPNs向白血病转化的研究进展作一综述。 |
| 关键词: 骨髓增殖性肿瘤 TP53基因突变 急性髓系白血病 继发性 |
| DOI：10.3969/j.issn.1674-3806.2025.05.22 |
| 分类号:R 733.3 |
| 基金项目:浙江省科技计划项目（编号：2022C03137）；浙江省医学会临床医学科研专项资金项目（编号：2022ZYC-D09） |
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| Research progress in transformation of myeloproliferative neoplasms with TP53 gene mutations into leukemia |
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BAO Xiaojing1, HUANG Jian2
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1.Department of Hematology, the Fourth Affiliated Hospital, Zhejiang University School of Medicine, Jinhua 322000, China; 2.Department of Hematology, the First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou 310000, China
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| Abstract: |
| ［Abstract］ Myeloproliferative neoplasms(MPNs) with TP53 gene mutations are at high risk of transforming into leukemia, characterized by repeated copy number variation and DNA damage during the disease progression, and unique erythroid-biased differentiation in the context of JAK2V617F mutations. Studies have shown that the activation of BMP2/SMAD signaling pathway and the change of CEBPA/GATA1 expression ratio in megakaryocyte-erythroid progenitor are its important molecular mechanisms. In addition, complete inactivation of TP53 gene and a certain mutation load are the necessary conditions for leukemia transformation. Chronic inflammation and immune evasion may be the key driving factors for cells with TP53 gene mutations to obtain dominant clones. In this paper, the research progress in transformation of MPNs with TP53 gene mutations into leukemia is reviewed. |
| Key words: Myeloproliferative neoplasms(MPNs) TP53 gene mutations Acute myeloid leukemia(AML) Secondary |
