文章：

小叶乳腺癌的独特分子改变：与病理分类、肿瘤生物学特性及临床管理的关联性分析

Unique Molecular Alteration of Lobular Breast Cancer: Association with Pathological Classification, Tumor Biology and Behavior, and Clinical Management

原文发布日期：27 January 2025

DOI: 10.3390/cancers17030417

类型: Article

开放获取: 是

英文摘要：

Invasive lobular carcinoma (ILC), accounting for up to 15% of diagnosed breast cancers, has garnered significant attention due to the loss of the epithelial cell–cell adhesion molecule E-cadherin. This loss contributes to its distinct biological, morphological, and clinical characteristics compared to non-lobular breast cancers. The use of immunohistochemistry (IHC) for E-cadherin and/or the associated cadherin–catenin complex, such as p120-catenin and beta-catenin, in morphologically equivocal cases, has been increasingly adopted in pathology practice. This approach has substantially improved diagnostic accuracy, interobserver reproducibility, and the identification of new morphologic variants of ILC. ILCs exhibit unique tumor biology, which presents considerable challenges in clinical management, especially in preoperative imaging evaluation, surgical management, and neoadjuvant treatment. Recent advances in translational and clinical research have enhanced our understanding of ILC and have spurred the development of new clinical trials specifically targeting these cancers. This review highlights recent progress in various aspects of ILC, including its unique molecular alteration, pathological classification and diagnostic approach, tumor biology and behavior, key clinical management challenges, and ongoing clinical trials, as well as the role of artificial intelligence in diagnosing ILC radiologically and pathologically. The goal of this review is to provide an updated understanding of the tumor biology, clinical manifestations, and molecular landscape of ILC and to help refine current tumor classification and diagnosis, subsequently improving management strategies and overall outcomes for lobular carcinoma patients.

摘要翻译： 

浸润性小叶癌约占已诊断乳腺癌的15%，因其上皮细胞间黏附分子E-钙黏蛋白的缺失而备受关注。与非小叶性乳腺癌相比，这种缺失导致了其独特的生物学、形态学和临床特征。在病理实践中，对于形态学不明确的病例，越来越多地采用针对E-钙黏蛋白和/或相关钙黏蛋白-连环蛋白复合物（如p120-连环蛋白和β-连环蛋白）的免疫组织化学检测。这一方法显著提高了诊断准确性、观察者间的一致性，并有助于识别新的浸润性小叶癌形态学亚型。浸润性小叶癌展现出独特的肿瘤生物学特性，这给临床管理带来了巨大挑战，尤其是在术前影像学评估、外科治疗和新辅助治疗方面。近期转化与临床研究的进展加深了我们对浸润性小叶癌的理解，并推动了专门针对此类癌症的新临床试验的发展。本综述重点阐述了浸润性小叶癌在多个方面的最新进展，包括其独特的分子改变、病理分类与诊断方法、肿瘤生物学与行为特征、关键的临床管理挑战以及正在进行的临床试验，同时探讨了人工智能在浸润性小叶癌影像学和病理学诊断中的作用。本综述旨在提供关于浸润性小叶癌肿瘤生物学、临床表现和分子特征的最新认识，以帮助完善当前的肿瘤分类与诊断，进而改进小叶癌患者的管理策略并提升总体预后。

原文链接：

Unique Molecular Alteration of Lobular Breast Cancer: Association with Pathological Classification, Tumor Biology and Behavior, and Clinical Management