Casasent Anna K, Edgerton Mary, Navin Nicholas E
Department of Genetics, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Graduate School of Biomedical Sciences, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
J Pathol. 2017 Jan;241(2):208-218. doi: 10.1002/path.4840. Epub 2016 Nov 27.
Ductal carcinoma in situ (DCIS) is the most frequently diagnosed early-stage breast cancer. Only a subset of patients progress to invasive ductal carcinoma (IDC), and this presents a formidable clinical challenge for determining which patients to treat aggressively and which patients to monitor without therapeutic intervention. Understanding the molecular and genomic basis of invasion has been difficult to study in DCIS cancers due to several technical obstacles, including low tumour cellularity, lack of fresh-frozen tissues, and intratumour heterogeneity. In this review, we discuss the role of intratumour heterogeneity in the progression of DCIS to IDC in the context of three evolutionary models: independent lineages, evolutionary bottlenecks, and multiclonal invasion. We examine the evidence in support of these models and their relevance to the diagnosis and treatment of patients with DCIS. We also discuss how emerging technologies, such as single-cell sequencing, STAR-FISH, and imaging mass spectrometry, are likely to provide new insights into the evolution of this enigmatic disease. Copyright © 2016 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.
导管原位癌（DCIS）是最常被诊断出的早期乳腺癌。只有一部分患者会进展为浸润性导管癌（IDC），这给确定哪些患者需要积极治疗、哪些患者无需治疗干预只需监测带来了巨大的临床挑战。由于一些技术障碍，包括肿瘤细胞密度低、缺乏新鲜冷冻组织以及肿瘤内异质性，在DCIS癌症中研究侵袭的分子和基因组基础一直很困难。在这篇综述中，我们在三种进化模型的背景下讨论肿瘤内异质性在DCIS向IDC进展中的作用：独立谱系、进化瓶颈和多克隆侵袭。我们审视支持这些模型的证据及其与DCIS患者诊断和治疗的相关性。我们还讨论了诸如单细胞测序、STAR-FISH和成像质谱等新兴技术如何可能为这种神秘疾病的进化提供新的见解。版权所有© 2016英国和爱尔兰病理学会。由约翰·威利父子有限公司出版。
