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激素受体阳性乳腺癌的遗传学、治疗及新技术

Genetics, Treatment, and New Technologies of Hormone Receptor-Positive Breast Cancer.

作者信息

Sebastian William, Forchette Lauren, Donoughe Kelsey, Lun Yibei, Verma Anisha, Liu Tuoen

机构信息

West Virginia School of Osteopathic Medicine, Lewisburg, WV 24901, USA.

出版信息

Cancers (Basel). 2023 Feb 18;15(4):1303. doi: 10.3390/cancers15041303.

Abstract

The current molecular classification divides breast cancer into four major subtypes, including luminal A, luminal B, HER2-positive, and basal-like, based on receptor gene expression profiling. Luminal A and luminal B are hormone receptor (HR, estrogen, and/or progesterone receptor)-positive and are the most common subtypes, accounting for around 50-60% and 15-20% of the total breast cancer cases, respectively. The drug treatment for HR-positive breast cancer includes endocrine therapy, HER2-targeted therapy (depending on the HER2 status), and chemotherapy (depending on the risk of recurrence). In this review, in addition to classification, we focused on discussing the important aspects of HR-positive breast cancer, including HR structure and signaling, genetics, including epigenetics and gene mutations, gene expression-based assays, the traditional and new drugs for treatment, and novel or new uses of technology in diagnosis and treatment. Particularly, we have summarized the commonly mutated genes and abnormally methylated genes in HR-positive breast cancer and compared four common gene expression-based assays that are used in breast cancer as prognostic and/or predictive tools in detail, including their clinical use, the factors being evaluated, patient demographics, and the scoring systems. All these topic discussions have not been fully described and summarized within other research or review articles.

摘要

目前的分子分类基于受体基因表达谱将乳腺癌分为四种主要亚型,包括腔面A型、腔面B型、HER2阳性型和基底样型。腔面A型和腔面B型为激素受体(HR,雌激素和/或孕激素受体)阳性,是最常见的亚型,分别占乳腺癌病例总数的约50 - 60%和15 - 20%。HR阳性乳腺癌的药物治疗包括内分泌治疗、HER2靶向治疗(取决于HER2状态)和化疗(取决于复发风险)。在本综述中,除了分类之外,我们重点讨论了HR阳性乳腺癌的重要方面,包括HR结构和信号传导、遗传学(包括表观遗传学和基因突变)、基于基因表达的检测方法、传统和新型治疗药物以及诊断和治疗中技术的新应用或新用途。特别是,我们总结了HR阳性乳腺癌中常见的突变基因和异常甲基化基因,并详细比较了四种常用于乳腺癌预后和/或预测工具的基于基因表达的检测方法,包括它们的临床应用、评估因素、患者人口统计学特征和评分系统。所有这些主题讨论在其他研究或综述文章中均未得到充分描述和总结。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c1de/9954687/4739b2b1a65a/cancers-15-01303-g001.jpg

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