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- 突变型急性髓系白血病:在新型治疗策略时代破解分子与临床谜题

-Mutated AML: Deciphering the Molecular and Clinical Puzzle in the Era of Novel Treatment Strategies.

作者信息

Diamantidis Michael D, Vlachou Maria Smaragdi, Katsikavela Anastasia, Kalomoiri Smaragdi, Bartzi Vasiliki, Ikonomou Georgia

机构信息

Thalassemia and Sickle Cell Disease Unit, Department of Hematology, General Hospital of Larissa, 41221 Larissa, Greece.

Department of Hematology-Lymphoma, Bone Marrow Transplantation Unit, Evangelismos General Hospital, 10676 Athens, Greece.

出版信息

Cancers (Basel). 2025 Jun 23;17(13):2095. doi: 10.3390/cancers17132095.

Abstract

The aberrant localization of the mutated () protein in the cytoplasm is the hallmark of the development of acute myeloid leukemia (AML); the gene, located in the nucleolus, codes for a protein that normally shuttles between the nucleus and the cytoplasm of the normal hematopoietic cells. Patients harboring mutations are diagnosed as having -mutated AMLs, which are types of leukemia with distinct clinical and laboratory characteristics. The essential diagnostics for investigating -mutated AMLs, the interactions with concomitant mutations affecting prognosis and the therapeutic interventions that the treatment of such patients requires are discussed in this review. Novel investigational agents in current clinical trials are also highlighted, along with the roles of exportin 1 (XPO1), menin-KMT2A inhibitors and immunotherapy in -mutated AMLs. This review focuses on critically evaluating the available data and aims to reveal the secrets of -mutated AMLs.

摘要

突变的()蛋白在细胞质中的异常定位是急性髓系白血病(AML)发生发展的标志;该基因位于核仁,编码一种正常情况下在正常造血细胞的细胞核和细胞质之间穿梭的蛋白质。携带突变的患者被诊断为发生-突变的AML,这是一类具有独特临床和实验室特征的白血病类型。本综述讨论了研究-突变AML的基本诊断方法、与影响预后的伴随突变的相互作用以及此类患者治疗所需的治疗干预措施。还重点介绍了当前临床试验中的新型研究药物,以及核输出蛋白1(XPO1)、Menin-KMT2A抑制剂和免疫疗法在-突变AML中的作用。本综述着重对现有数据进行批判性评估,旨在揭示-突变AML的奥秘。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0310/12248482/45838185f2d9/cancers-17-02095-g001.jpg

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