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分子乳腺癌病理学的新进展。

New Advances in Molecular Breast Cancer Pathology.

机构信息

Department of Histopathology, Division of Cancer and Stem Cells, School of Medicine, The University of Nottingham and Nottingham University Hospitals NHS Trust, Nottingham City Hospital, Nottingham, NG5 1PB, UK.

Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY USA.

出版信息

Semin Cancer Biol. 2021 Jul;72:102-113. doi: 10.1016/j.semcancer.2020.03.014. Epub 2020 Apr 5.

Abstract

Breast cancer (BC) comprises a diverse spectrum of diseases featuring distinct presentation, morphological, biological, and clinical phenotypes. BC behaviour and response to therapy also vary widely. Current evidence indicates that traditional prognostic and predictive classification systems are insufficient to reflect the biological and clinical heterogeneity of BC. Advancements in high-throughput molecular techniques and bioinformatics have contributed to the improved understanding of BC biology, refinement of molecular taxonomies and the development of novel prognostic and predictive molecular assays. Molecular testing has also become increasingly important in the diagnosis and treatment of BC in the era of precision medicine. Despite the enormous amount of research work to develop and refine BC molecular prognostic and predictive assays, it is still in evolution and proper incorporation of these molecular tests into clinical practice to guide patient's management remains a challenge. With the increasing use of more sophisticated high throughput molecular techniques, large amounts of data will continue to emerge, which could potentially lead to identification of novel therapeutic targets and allow more precise classification systems that can accurately predict outcome and response to therapy. In this review, we provide an update on the molecular classification of BC and molecular prognostic assays. Companion diagnostics, contribution of massive parallel sequencing and the use of liquid biopsy are also highlighted.

摘要

乳腺癌(BC)包含一系列具有不同表现、形态、生物学和临床表型的疾病。BC 的行为和对治疗的反应也有很大差异。目前的证据表明,传统的预后和预测分类系统不足以反映 BC 的生物学和临床异质性。高通量分子技术和生物信息学的进步促进了对 BC 生物学的深入理解,分子分类学的细化以及新型预后和预测分子检测的开发。分子检测在精准医学时代也在 BC 的诊断和治疗中变得越来越重要。尽管已经进行了大量的研究工作来开发和完善 BC 的分子预后和预测检测,但它仍在不断发展,将这些分子检测恰当地纳入临床实践以指导患者管理仍然是一个挑战。随着更复杂的高通量分子技术的使用增加,将继续出现大量数据,这可能会识别出新的治疗靶点,并允许更精确的分类系统,从而能够准确预测治疗效果和反应。在这篇综述中,我们提供了 BC 的分子分类和分子预后检测的最新信息。同时还强调了伴随诊断、大规模平行测序的贡献以及液体活检的应用。

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