影响 p53 肿瘤抑制因子功能的基因改变已在骨髓肿瘤中得到广泛研究，揭示了它们对疾病进展、治疗反应和患者结果的显着影响。 TP53 突变的识别和表征在髓系肿瘤的亚分类和指导治疗决策中发挥着关键作用。本文从一个典型病例的介绍开始，强调了涉及 TP53 的基因改变的复杂性，并对 TP53 突变和骨髓肿瘤中的其他改变进行了全面分析。讨论了临床实验室目前用于识别 TP53 突变的可用方法，重点关注在临床实验室内建立稳健的测试方案以确保提供准确可靠的结果的重要性。综述了 TP53 突变对骨髓肿瘤的治疗意义和临床试验选择。最终，我们希望这篇综述能够为髓系肿瘤中 TP53 改变的模式提供有价值的见解，并为建立实用的实验室检测方案以支持精准肿瘤学的最佳实践提供指导。© 作者 2024。由牛津大学出版社出版代表美国临床病理学会。

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.© The Author(s) 2024. Published by Oxford University Press on behalf of American Society for Clinical Pathology.