管腔型乳腺癌中的基因组特征

Genomic Signatures in Luminal Breast Cancer.

作者信息

Puppe Julian, Seifert Tabea, Eichler Christian, Pilch Henryk, Mallmann Peter, Malter Wolfram

机构信息

Department of Obstetrics and Gynecology, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.

出版信息

Breast Care (Basel). 2020 Aug;15(4):355-365. doi: 10.1159/000509846. Epub 2020 Jul 21.

Abstract

BACKGROUND

Breast cancer is a very heterogeneous disease and luminal breast carcinomas represent the hormone receptor-positive tumors among all breast cancer subtypes. In this context, multigene signatures were developed to gain further prognostic and predictive information beyond clinical parameters and traditional immunohistochemical markers.

SUMMARY

For early breast cancer patients these molecular tools can guide clinicians to decide on the extension of endocrine therapy to avoid over- and undertreatment by adjuvant chemotherapy. Beside the predictive and prognostic value, a few genomic tests are also able to provide intrinsic subtype classification. In this review, we compare the most frequently used and commercially available molecular tests (OncotypeDX®, MammaPrint®, Prosigna®, EndoPredict®, and Breast Cancer Index). Moreover, we discuss the clinical utility of molecular profiling for advanced breast cancer of the luminal subtype.

KEY MESSAGES

Multigene assays can help to de-escalate systemic therapy in early-stage breast cancer. Only the Oncotype DX® and MammaPrint®test are validated by entirely prospective and randomized phase 3 trials. More clinical evidence is needed to support the use of genomic tests in node-positive disease. Recent developments in high-throughput sequencing technology will provide further insights to understand the heterogeneity of luminal breast cancers in early-stage and metastatic disease.

摘要

背景

乳腺癌是一种高度异质性疾病,管腔型乳腺癌是所有乳腺癌亚型中激素受体阳性的肿瘤。在此背景下,多基因特征分析技术得以发展,旨在获取超越临床参数和传统免疫组化标志物的更多预后和预测信息。

总结

对于早期乳腺癌患者,这些分子工具可指导临床医生决定内分泌治疗的时长,以避免辅助化疗过度治疗和治疗不足。除了预测和预后价值外,一些基因组检测还能够提供内在亚型分类。在本综述中,我们比较了最常用且可商业化的分子检测方法(OncotypeDX®、MammaPrint®、Prosigna®、EndoPredict®和乳腺癌指数)。此外,我们还讨论了分子谱分析在晚期管腔型乳腺癌中的临床应用。

关键信息

多基因检测有助于减少早期乳腺癌的全身治疗强度。只有Oncotype DX®和MammaPrint®检测通过了完全前瞻性随机3期试验验证。在淋巴结阳性疾病中使用基因组检测还需要更多临床证据支持。高通量测序技术的最新进展将为理解早期和转移性疾病中管腔型乳腺癌的异质性提供更多见解。

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