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p53 免疫组化染色与子宫内膜癌中的 TP53 基因突变:缺失模式与预后相关吗?

p53 Immunohistochemical Staining and TP53 Gene Mutations in Endometrial Cancer: Does Null Pattern Correlate With Prognosis?

机构信息

Departments of Obstetrics & Gynecology.

Genome Analysis Center, Yamanashi Central Hospital, Yamanashi.

出版信息

Am J Surg Pathol. 2023 Oct 1;47(10):1144-1150. doi: 10.1097/PAS.0000000000002106. Epub 2023 Aug 3.

Abstract

Whether immunohistochemistry (IHC) of p53 accurately reflects the TP53 mutational status of endometrial carcinoma (EC) has not yet been established. This study aimed to clarify the relationship between p53 IHC and TP53 mutations in EC and to examine whether p53 IHC can be a more convenient prognostic marker than TP53 mutation in EC. We performed p53 IHC staining of EC samples obtained via surgery and genetic analyses using next-generation sequencing. p53 IHC results showed that of the 101 cases, 71 (70%) were wild-type (WT), 12 (12%) were overexpression (OE), and 18 (18%) were in the null group. Missense mutations were found in 9 cases (47.4%) in OE, 2 (10.5%) in null, and 8 (42.1%) in the WT group. Truncating mutations were found in 1 case (8.3%) in OE, 6 (50%) in null, and 5 (41.7%) in the WT group. The 5-year progression-free survival was 0% in OE, 74.8% in null, and 79.0% in the WT group. In the prognosis for each type of TP53 mutation, the 5-year progression-free survival was missense (32.2%), truncating (65.6%), and WT (79.7%). These survival comparisons showed that the p53 IHC OE had the poorest prognosis. These results suggest that the p53 IHC OE is an independent poor prognostic factor for EC and can be used as a simple and rapid surrogate marker for TP53 mutations. Contrastingly, the complete absence of p53 IHC-the null staining pattern-may not accurately predict a TP53 mutation in EC, and it is necessary to be more careful in making the diagnosis of "abnormal."

摘要

p53 免疫组织化学(IHC)是否能准确反映子宫内膜癌(EC)的 TP53 突变状态尚未确定。本研究旨在阐明 EC 中 p53 IHC 与 TP53 突变之间的关系,并检验 p53 IHC 是否可以成为比 EC 中 TP53 突变更方便的预后标志物。我们对通过手术获得的 EC 样本进行了 p53 IHC 染色,并使用下一代测序进行了遗传分析。p53 IHC 结果显示,在 101 例病例中,71 例(70%)为野生型(WT),12 例(12%)为过表达(OE),18 例(18%)为无表达组。在 OE 组中发现了 9 例(47.4%)错义突变,在无表达组中发现了 2 例(10.5%),在 WT 组中发现了 8 例(42.1%)。在 OE 组中发现了 1 例(8.3%)截断突变,在无表达组中发现了 6 例(50%),在 WT 组中发现了 5 例(41.7%)。OE 组的 5 年无进展生存率为 0%,无表达组为 74.8%,WT 组为 79.0%。在每种类型的 TP53 突变的预后中,5 年无进展生存率为错义(32.2%)、截断(65.6%)和 WT(79.7%)。这些生存比较表明,p53 IHC OE 具有最差的预后。这些结果表明,p53 IHC OE 是 EC 的独立不良预后因素,可以作为 TP53 突变的简单、快速替代标志物。相比之下,p53 IHC 完全缺失——无表达染色模式——可能无法准确预测 EC 中的 TP53 突变,在做出“异常”诊断时需要更加小心。

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