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推在B细胞淋巴瘤中对TP53突变状态进行现实世界常规诊断分子分析,而不是对B细胞淋巴瘤的p53免疫组织化学

Lorraine M de Haan¹, Ruben A L de Groen², Fleur A de Groot²

¹Department of Pathology, Leiden University Medical Center, L1-Q, P.O. box 9600, 2300RC, Leiden, The Netherlands. l.m.de_haan@lumc.nl.

Virchows Archiv : an international journal of pathology

|October 18, 2023

概括

在成熟的B细胞淋巴瘤 (MBCL) 中检测TP53突变时,p53免疫组织化学 (IHC) 是不可靠的. 建议进行分子测试,以准确评估MBCL患者的风险和计划治疗.

科学领域:

在瘤学瘤学.
血液学血液学血液学
分子病理学分子病理学

背景情况:

成熟B细胞淋巴瘤 (MBCL) 中TP53异常与治疗结果差异相关.
p53免疫组织化学 (IHC) 在固体瘤中使用,但其在淋巴瘤中的效用不太确立.
准确的TP53突变状态对于MBCL风险分层至关重要.

研究的目的:

评估p53 IHC作为MBCL中TP53突变分析的替代品的诊断准确性.
评估p53 IHC在常规临床实践中对MBCL患者的可靠性.
确定p53 IHC是否可以可靠地识别具有致病TP53变异的患者.

主要方法:

354个MBCL患者样本的回顾性分析.
p53 IHC 分类为野生类型,缺席或过度表达.
通过目标下一代测序 (tNGS) 识别的TP53突变.
将p53 IHC结果与tNGS结果进行比较.

主要成果:

在29%的患者中发现了致病性TP53突变 (102/354).
p53 IHC的整体准确率为84.5%,但敏感度较低 (65.7%).
p53 IHC的特异性很高 (92.1%),但它经常错过TP53突变.

结论:

p53 IHC不足以作为MBCL中TP53突变检测的独立标志物.
仅依靠p53 IHC就有可能错误地分类高风险患者.
建议所有MBCL患者进行分子分析 (tNGS),以指导治疗.

关键词:

在B细胞淋巴瘤.血液病理学血液病理学免疫组织化学免疫组织化学分子诊断学分子诊断学有针对性的治疗.

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