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乳腺侵袭性叶状腺癌中的E-Cadherin突变格局和结果

Lounes Djerroudi¹, Amel Bendali², Laetitia Fuhrmann²

¹Institut Curie, Women's Cancer Institute, PSL University, Department of Diagnostic and Theranostic Medicine, Paris, France; Institut Curie, Women's Cancer Institute, PSL University, INSERM U830, Stress and Cancer Laboratory, Paris, France.

Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc

|July 18, 2024

概括

这项研究表明,在侵袭性叶状癌 (ILC) 中,特定的CDH1基因突变会影响E-cadherin的表达和患者的结果. 了解这些突变是改善ILC诊断和治疗策略的关键.

科学领域:

在瘤学瘤学.
遗传学遗传学是一个
病理学病理学病理学

背景情况:

侵袭性叶膜癌 (ILC) 诊断面临着由于次优可重复性而面临的挑战.
失去E-cadherin表达和CDH1基因失活是ILC的标志.
组织分子和临床异质性有助于诊断变异性.

研究的目的:

为了研究CDH1基因突变 (存在,类型,位置),E-cadherin表达和ILC中的临床病理特征之间的关系.
分析这些因素对患者治疗结果的影响.
为了更好的诊断,提高对ILC异质性的理解.

主要方法:

对251个初级ILC病例进行了回顾性分析,并进行了长期随访.
通过RNA测序确定CDH1基因突变状态.
使用多个抗体,通过免疫组织化学 (IHC) 评估E-cadherin,p120和β-catenin的表达.

主要成果:

通过IHC (零/焦点,异质,扩散) 确定了三种不同的E-cadherin膜表达模式,具有良好的抗体间一致性.
在零/焦点和扩散E-cadherin表达病例中,CDH1突变率高,后者富含非截断突变.
CDH1截断突变与放射性组织学尺寸异常相关,是转移和乳腺癌死亡率的独立不良预后因素.

结论:

精确的CDH1突变状态对于了解ILC的临床,放射学,组织学和表型多样性至关重要.
这些发现强调了将详细的CDH1突变分析纳入ILC诊断和研究的必要性.
这种知识可以为ILC提供改进的诊断标准和临床生物学研究.

关键词:

在CDH1突变中.E-cadherin 免疫组织化学反应侵袭性叶叶状癌的癌症.预后预后预后

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