乳腺癌中HER2基因突变和基质生物标志物

IF 2.1 3区医学 Q2 MEDICAL LABORATORY TECHNOLOGY

Clinical biochemistry Pub Date : 2025-09-03 DOI:10.1016/j.clinbiochem.2025.111007

Leyla Karimova , Gulnara Azizova , Ilaha Shahverdiyeva

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引用次数: 0

摘要

目的乳腺癌（BC）仍然是全球妇女发病率和死亡率的主要原因。本研究旨在研究HER2阴性BC中HER2突变，并评估基质金属蛋白酶（MMP-7、MMP-9）和CYR61作为血清生物标志物的诊断潜力。材料和方法本研究纳入74名诊断为BC的妇女（her2阳性：n = 33； her2阴性：n = 33；三阴：n = 8）和25名健康对照。使用“AmoyDx HER2突变检测”试剂盒分析HER2基因突变。使用Bio-Techne试剂盒（R&D Systems）采用Quantikine ELISA法定量血清MMP-7、MMP-9和CYR61水平。结果HER2阴性BC患者HER2基因18、20外显子未发现突变（A775_G776insYVMA、M774_A775insAYVM、G776 > VC、G776R、G776C、p780_y7781insgsp、V777L、L755P）。与对照组相比，BC患者血清中MMP-9水平显著降低（p < 0.001）。然而，与健康女性相比，MMP-7水平没有显着变化（p = 0.464）。CYR61具有较高的诊断准确性（AUC = 0.95），支持其作为可靠生物标志物的潜力。结论血清MMP-9水平的降低与正在进行的组织过程有关，主要是由于细胞外基质消耗增加。在所有乳腺癌亚型中均观察到CYR61过表达，独立于HER2活性，表明其在BC诊断和治疗中的重要潜力。

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HER2 gene mutations and matrix biomarkers in breast cancer

Objective

Breast cancer (BC) remains a leading cause of morbidity and mortality among women globally. This study aims to investigate HER2 mutations in HER2-negative BC and evaluate the diagnostic potential of matrix metalloproteinases (MMP-7, MMP-9) and CYR61 as serum biomarkers.

Material and methods

The study involved 74 women diagnosed with BC (HER2-positive: n = 33; HER2-negative: n = 33; triple negative: n = 8) and 25 healthy controls. HER2 gene mutations were analyzed using the “AmoyDx HER2 Mutation Detection” kit. Serum MMP-7, MMP-9, and CYR61 levels were quantified using Bio-Techne kits (R&D Systems) using the Quantikine ELISA method.

Results

The study found no mutations (A775_G776insYVMA, M774_A775insAYVM, G776 > VC, G776R, G776C, P780_Y781insGSP, V777L, L755P) in exons 18 and 20 of the HER2 gene in HER2 negative BC patients.

MMP-9 serum levels were significantly reduced in BC patients compared to the control group (p < 0.001). However, MMP-7 levels showed no significant variation when compared to healthy women (p = 0.464). CYR61 exhibited high diagnostic accuracy (AUC = 0.95), supporting its potential as a reliable biomarker.

Conclusion

The reduction in serum MMP-9 levels correlates with ongoing tissue processes, primarily due to increased consumption in the extracellular matrix. CYR61 overexpression is observed across all breast cancer subtypes, independent of HER2 activity, suggesting its significant potential for use in BC diagnosis and treatment.

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来源期刊

Clinical biochemistry 医学-医学实验技术

CiteScore

5.10

自引率

0.00%

发文量

151

审稿时长

25 days

期刊介绍： Clinical Biochemistry publishes articles relating to clinical chemistry, molecular biology and genetics, therapeutic drug monitoring and toxicology, laboratory immunology and laboratory medicine in general, with the focus on analytical and clinical investigation of laboratory tests in humans used for diagnosis, prognosis, treatment and therapy, and monitoring of disease.