De Abreu F B, Schwartz G N, Wells W A, Tsongalis G J
Department of Pathology.
Clin Genet. 2014 Jul;86(1):62-7. doi: 10.1111/cge.12381. Epub 2014 Apr 9.
Breast cancer is a complex disease characterized by many morphological, clinical and molecular features. For many years, this disease has been classified according to histopathologic criteria, known as the tumor, node and metastasis (TNM) staging system. Clinical criteria that include immunohistochemical markers, such as the estrogen receptor (ER), the progesterone receptor (PR), and the human epidermal growth factor receptor 2 (HER2), provide a classification of breast cancer and dictates the optimal therapeutic approach for treatment. With genomic techniques, such as real-time reverse transcriptase PCR (RT-PCR), microarrays, next-generation sequencing, and whole-exome sequencing, breast cancer diagnostics is going through a significant evolution. Genomic and transcriptomic technologies make the analysis of gene expression signatures and mutation status possible so that tumors may now be classified more accurately with respect to diagnosis and prognosis. The -omic era has also made the possible identification of new biomarkers involved in breast cancer development, survival and invasion that can be gradually incorporated either into clinical testing or clinical trials. Together, clinical and molecular criteria can contribute to a more personalized management of the breast cancer patient. This article will present the progress made in the diagnosis and management of breast cancer using molecular information provided by genomic and transcriptomic technologies.
乳腺癌是一种复杂的疾病,具有多种形态学、临床和分子特征。多年来,这种疾病一直根据组织病理学标准进行分类,即肿瘤、淋巴结和转移(TNM)分期系统。包括免疫组化标志物(如雌激素受体(ER)、孕激素受体(PR)和人表皮生长因子受体2(HER2))在内的临床标准为乳腺癌提供了一种分类方法,并决定了最佳的治疗方法。借助实时逆转录聚合酶链反应(RT-PCR)、微阵列、下一代测序和全外显子测序等基因组技术,乳腺癌诊断正在经历重大变革。基因组和转录组技术使得分析基因表达特征和突变状态成为可能,从而现在可以在诊断和预后方面更准确地对肿瘤进行分类。“组学”时代还使得识别参与乳腺癌发生、生存和侵袭的新生物标志物成为可能,这些生物标志物可以逐渐纳入临床试验或临床检测中。临床和分子标准共同有助于对乳腺癌患者进行更个性化的管理。本文将介绍利用基因组和转录组技术提供的分子信息在乳腺癌诊断和管理方面取得的进展。