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：
影响p53肿瘤抑制因子功能的遗传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的重大影响，治疗反应,和患者结果。TP53突变的鉴定和表征在骨髓性肿瘤亚分类和指导治疗决策中起关键作用。从一个典型案例的呈现开始,这篇综述强调了涉及TP53的遗传改变的复杂性,并提供了对髓系肿瘤中TP53突变和其他改变的全面分析.讨论了临床实验室中用于鉴定TP53突变的当前可用方法，重点是在临床实验室内建立可靠的测试协议以确保提供准确可靠的结果的重要性。综述了TP53突变在骨髓性肿瘤中的治疗意义和临床试验选择。最终,我们希望这篇综述能对髓系肿瘤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提供指导,以支持精准肿瘤学的最佳实践.
