在B细胞淋巴瘤中,建议对TP53突变状态进行真实世界的常规诊断分子分析,而不是p53免疫组织化学。

IF 3.4 3区 医学 Q1 PATHOLOGY Virchows Archiv Pub Date : 2024-10-01 Epub Date: 2023-10-18 DOI:10.1007/s00428-023-03676-6
Lorraine M de Haan, Ruben A L de Groen, Fleur A de Groot, Troy Noordenbos, Tom van Wezel, Ronald van Eijk, Dina Ruano, Arjan Diepstra, Lianne Koens, Alina Nicolae-Cristea, Wietske C E den Hartog, Valeska Terpstra, Els Ahsmann, Tim J A Dekker, Aniko Sijs-Szabo, Hendrik Veelken, Arjen H G Cleven, Patty M Jansen, Joost S P Vermaat
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引用次数: 0

摘要

先前对成熟B细胞淋巴瘤(MBCL)患者的研究表明,致病性TP53畸变与较差的化疗疗效和生存结果有关。在实体恶性肿瘤中,p53免疫组织化学通常被用作评估TP53突变的替代标记,但这种相关性在淋巴瘤中尚未得到证实。本研究评估了p53免疫组织化学作为TP53突变分析的替代标志物的准确性,该研究在一个由354名MBCL患者组成的大型现实世界患者队列中进行了常规诊断实践。对于每种情况,p53 IHC被分为三类:野生型(用可变核染色对1-50%的肿瘤细胞进行染色)、异常完全缺失或异常过度表达(强染色和弥漫染色 > 50%的肿瘤细胞)。用靶向下一代测序(tNGS)小组鉴定了TP53的致病性变体。野生型p53表达267例(75.4%),完全缺失20例(5.7%),过度表达67例(18.9%)。tNGS在102例(29%)患者中发现致病性TP53突变。p53 IHC的总体准确率为84.5%(95%CI 80.3-88.1),特异性为92.1%(95%CI 88.0-95.1),但敏感性较低,为65.7%(95%CI 55.7-74.8)。这些结果表明,在我们对MBCL患者的真实世界常规诊断检查中,p53 IHC不足以作为TP53突变的替代标志物。通过单独使用p53免疫组织化学,TP53突变有被遗漏的显著风险,从而导致对高危患者的错误评估。因此,建议对所有MBCL患者进行分子分析,特别是针对基于TP53突变状态的风险导向疗法的进一步发展。
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Real-world routine diagnostic molecular analysis for TP53 mutational status is recommended over p53 immunohistochemistry in B-cell lymphomas.

Previous studies in patients with mature B-cell lymphomas (MBCL) have shown that pathogenic TP53 aberrations are associated with inferior chemotherapeutic efficacy and survival outcomes. In solid malignancies, p53 immunohistochemistry is commonly used as a surrogate marker to assess TP53 mutations, but this correlation is not yet well-established in lymphomas. This study evaluated the accuracy of p53 immunohistochemistry as a surrogate marker for TP53 mutational analysis in a large real-world patient cohort of 354 MBCL patients within routine diagnostic practice. For each case, p53 IHC was assigned to one of three categories: wild type (staining 1-50% of tumor cells with variable nuclear staining), abnormal complete absence or abnormal overexpression (strong and diffuse staining > 50% of tumor cells). Pathogenic variants of TP53 were identified with a targeted next generation sequencing (tNGS) panel. Wild type p53 expression was observed in 267 cases (75.4%), complete absence in twenty cases (5.7%) and the overexpression pattern in 67 cases (18.9%). tNGS identified a pathogenic TP53 mutation in 102 patients (29%). The overall accuracy of p53 IHC was 84.5% (95% CI 80.3-88.1), with a robust specificity of 92.1% (95% CI 88.0- 95.1), but a low sensitivity of 65.7% (95% CI 55.7-74.8). These results suggest that the performance of p53 IHC is insufficient as a surrogate marker for TP53 mutations in our real-world routine diagnostic workup of MBCL patients. By using p53 immunohistochemistry alone, there is a significant risk a TP53 mutation will be missed, resulting in misevaluation of a high-risk patient. Therefore, molecular analysis is recommended in all MBCL patients, especially for further development of risk-directed therapies based on TP53 mutation status.

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来源期刊
Virchows Archiv
Virchows Archiv 医学-病理学
CiteScore
7.40
自引率
2.90%
发文量
204
审稿时长
4-8 weeks
期刊介绍: Manuscripts of original studies reinforcing the evidence base of modern diagnostic pathology, using immunocytochemical, molecular and ultrastructural techniques, will be welcomed. In addition, papers on critical evaluation of diagnostic criteria but also broadsheets and guidelines with a solid evidence base will be considered. Consideration will also be given to reports of work in other fields relevant to the understanding of human pathology as well as manuscripts on the application of new methods and techniques in pathology. Submission of purely experimental articles is discouraged but manuscripts on experimental work applicable to diagnostic pathology are welcomed. Biomarker studies are welcomed but need to abide by strict rules (e.g. REMARK) of adequate sample size and relevant marker choice. Single marker studies on limited patient series without validated application will as a rule not be considered. Case reports will only be considered when they provide substantial new information with an impact on understanding disease or diagnostic practice.
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