文章：

突变至关重要：揭示浸润性小叶癌的遗传蓝图以洞察进展机制与制定治疗策略

Mutations Matter: Unravelling the Genetic Blueprint of Invasive Lobular Carcinoma for Progression Insights and Treatment Strategies

原文发布日期：14 November 2024

DOI: 10.3390/cancers16223826

类型: Article

开放获取: 是

英文摘要：

Invasive Lobular Carcinoma (ILC) presents a distinct subtype of breast cancer, representing 10–15% of cases, with unique clinical and molecular features. Characterized by a non-cohesive, single-file invasion pattern, ILC is typically estrogen receptor (ER)- and progesterone receptor (PR)-positive but human epidermal growth factor receptor 2 (HER2)-negative. Despite favorable prognostic features, its highly metastatic nature and predilection for atypical sites contribute to lower long-term survival compared to invasive breast carcinoma of no special type (NST). ILC’s genetic landscape includes mutations in various genes (CDH1, BRCA2, ATM, etc.) and signaling pathways that impact treatment responses, especially in endocrine treatment. Furthermore, the diverse ILC subtypes complicate its management. Current challenges in chemotherapy, along with the targeted therapies, are also discussed. The present article aims to comprehensively review the recent literature, focusing on the pathological and molecular aspects of ILC, including associated genetic mutations influencing disease progression and drug resistance.

摘要翻译： 

浸润性小叶癌（ILC）是乳腺癌的一种独特亚型，约占全部病例的10–15%，具有独特的临床和分子特征。该亚型以非黏附性、单行排列的浸润模式为特点，通常表现为雌激素受体（ER）和孕激素受体（PR）阳性，而人表皮生长因子受体2（HER2）阴性。尽管其预后特征相对良好，但与无特殊类型的浸润性乳腺癌（NST）相比，ILC具有高度转移性及对非典型部位的转移倾向，导致长期生存率较低。ILC的遗传学背景涉及多种基因（CDH1、BRCA2、ATM等）及信号通路的突变，这些突变影响治疗反应，尤其在内分泌治疗中。此外，ILC的多种亚型使其临床管理更为复杂。本文还讨论了当前化疗及靶向治疗面临的挑战。本文旨在全面综述近期文献，重点关注ILC的病理学和分子学特征，包括影响疾病进展和耐药性的相关基因突变。

原文链接：

Mutations Matter: Unravelling the Genetic Blueprint of Invasive Lobular Carcinoma for Progression Insights and Treatment Strategies