Diagnostic utility of ESR1 mutation detection in liquid biopsy of metastatic breast cancer patients.

IF 3.4 3区医学 Q1 PATHOLOGY

Virchows Archiv Pub Date : 2024-10-11 DOI:10.1007/s00428-024-03942-1

Maria Sandbothe, Britta Hasemeier, Elisa Schipper, Nora Schaumann, Hans Kreipe, Ulrich Lehmann, Stephan Bartels

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Abstract

Molecular analysis of circulating cell-free DNA (cfDNA) extracted from peripheral blood plasma samples of metastatic breast cancer (BC) patients is of rising interest to find optimal therapeutic strategies. Detection of emerging resistance mutations against endocrine therapy is possible with this approach. Here we present the applicability of a laboratory-developed NGS assay in molecular pathology routine diagnostic, covering four genes with therapeutic (ESR1, PIK3CA, ERBB2) and prognostic (TP53) consequences in metastatic BC. We analyzed 162 liquid biopsy samples and 25 corresponding metastases from metastatic BC patients. In the liquid biopsies, we detected ESR1 mutations in 42 cases (25.9%) and ERBB2 mutations in six cases (3.7%), arguing for a change in therapy to fulvestrant, elacestrant, or neratinib. Furthermore, 17 cases had detectable TP53 mutations, associated with resistance against endocrine therapy. We conclude that liquid biopsy testing is a noninvasive, sensitive, and helpful method to optimize therapeutic decisions in metastatic BC.

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在转移性乳腺癌患者液体活检中检测 ESR1 基因突变的诊断效用。

对从转移性乳腺癌（BC）患者外周血血浆样本中提取的循环无细胞DNA（cfDNA）进行分子分析以寻找最佳治疗策略的兴趣日益浓厚。通过这种方法可以检测新出现的内分泌治疗耐药性突变。在这里，我们介绍了实验室开发的 NGS 检测方法在分子病理学常规诊断中的适用性，它涵盖了转移性 BC 中具有治疗作用（ESR1、PIK3CA、ERBB2）和预后作用（TP53）的四个基因。我们分析了转移性 BC 患者的 162 份液体活检样本和 25 个相应的转移灶。在液体活检样本中，我们检测到42例（25.9%）患者存在ESR1突变，6例（3.7%）患者存在ERBB2突变，这就要求将治疗方法改为氟维司群、艾拉司群或奈瑞替尼。此外，有17例患者检测到了TP53突变，这与内分泌治疗的耐药性有关。我们的结论是，液体活检检测是一种无创、灵敏且有助于优化转移性BC治疗决策的方法。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

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.