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髓系肿瘤中 TP53 基因突变:对准确的实验室检测、诊断和治疗的影响。

TP53 mutations in myeloid neoplasms: implications for accurate laboratory detection, diagnosis, and treatment.

机构信息

Department of Pathology and Laboratory Medicine, Emory University School of Medicine, Atlanta, GA, US.

Department of Laboratory Medicine, Geisinger Medical Center, Danville, PA, US.

出版信息

Lab Med. 2024 Nov 4;55(6):686-699. doi: 10.1093/labmed/lmae048.

Abstract

Genetic alterations that affect the function of p53 tumor suppressor have been extensively investigated in myeloid neoplasms, revealing their significant impact on disease progression, treatment response, and patient outcomes. The identification and characterization of TP53 mutations play pivotal roles in subclassifying myeloid neoplasms and guiding treatment decisions. Starting with the presentation of a typical case, this review highlights the complicated nature of genetic alterations involving TP53 and provides a comprehensive analysis of TP53 mutations and other alterations in myeloid neoplasms. Currently available methods used in clinical laboratories to identify TP53 mutations are discussed, focusing on the importance of establishing a robust testing protocol within clinical laboratories to ensure the delivery of accurate and reliable results. The treatment implications of TP53 mutations in myeloid neoplasms and clinical trial options are reviewed. Ultimately, we hope that this review provides valuable insights into the patterns of TP53 alterations in myeloid neoplasms and offers guidance to establish practical laboratory testing protocols to support the best practices of precision oncology.

摘要

在髓系肿瘤中,广泛研究了影响 p53 肿瘤抑制因子功能的遗传改变,揭示了它们对疾病进展、治疗反应和患者结局的重大影响。TP53 突变的鉴定和特征分析在髓系肿瘤的分类和治疗决策指导中起着关键作用。本综述从一个典型病例开始,强调了涉及 TP53 的遗传改变的复杂性,并对髓系肿瘤中的 TP53 突变和其他改变进行了全面分析。讨论了目前临床实验室中用于识别 TP53 突变的方法,重点强调了在临床实验室中建立稳健的检测方案以确保提供准确可靠结果的重要性。综述了 TP53 突变在髓系肿瘤中的治疗意义和临床试验选择。最终,我们希望本综述能深入了解髓系肿瘤中 TP53 改变的模式,并为建立实用的实验室检测方案提供指导,以支持精准肿瘤学的最佳实践。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f676/11532620/0f2a6dbf0018/lmae048_fig1a.jpg

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