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基因组检测在早期乳腺癌中的作用演变:对诊断、预后和治疗的影响。

The Evolving Role of Genomic Testing in Early Breast Cancer: Implications for Diagnosis, Prognosis, and Therapy.

机构信息

Division of Pathology, IEO, European Institute of Oncology IRCCS, 20141 Milan, Italy.

School of Pathology, University of Milan, 20122 Milan, Italy.

出版信息

Int J Mol Sci. 2024 May 24;25(11):5717. doi: 10.3390/ijms25115717.


DOI:10.3390/ijms25115717
PMID:38891906
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11172282/
Abstract

Multigene prognostic genomic assays have become indispensable in managing early breast cancer (EBC), offering crucial information for risk stratification and guiding adjuvant treatment strategies in conjunction with traditional clinicopathological parameters. The American Society of Clinical Oncology (ASCO) guidelines endorse these assays, though some clinical contexts still lack definitive recommendations. The dynamic landscape of EBC management demands further refinement and optimization of genomic assays to streamline their incorporation into clinical practice. The breast cancer community is poised at the brink of transformative advances in enhancing the clinical utility of genomic assays, aiming to significantly improve the precision and effectiveness of both diagnosis and treatment for women with EBC. This article methodically examines the testing methodologies, clinical validity and utility, costs, diagnostic frameworks, and methodologies of the established genomic tests, including the Oncotype Dx Breast Recurrence Score, MammaPrint, Prosigna, EndoPredict, and Breast Cancer Index (BCI). Among these tests, Prosigna and EndoPredict have at present been validated only on a prognostic level, while Oncotype Dx, MammaPrint, and BCI hold both a prognostic and predictive role. Oncologists and pathologists engaged in the management of EBC will find in this review a thorough comparison of available genomic assays, as well as strategies to optimize the utilization of the information derived from them.

摘要

多基因预后基因组检测已成为早期乳腺癌(EBC)管理不可或缺的手段,为风险分层提供了关键信息,并与传统的临床病理参数一起指导辅助治疗策略。美国临床肿瘤学会(ASCO)指南认可这些检测,但在某些临床情况下,仍缺乏明确的推荐意见。EBC 管理的动态格局要求进一步细化和优化基因组检测,以使其更有效地纳入临床实践。乳腺癌领域正处于提高基因组检测临床实用性的变革性进展的边缘,旨在显著提高 EBC 女性的诊断和治疗的准确性和有效性。本文系统地研究了已建立的基因组检测的检测方法、临床有效性和实用性、成本、诊断框架和方法,包括 Oncotype Dx 乳腺癌复发评分、MammaPrint、Prosigna、EndoPredict 和乳腺癌指数(BCI)。在这些检测中,Prosigna 和 EndoPredict 目前仅在预后水平上得到验证,而 Oncotype Dx、MammaPrint 和 BCI 则具有预后和预测作用。参与 EBC 管理的肿瘤学家和病理学家将在这篇综述中找到对现有基因组检测的全面比较,以及优化利用从中获得的信息的策略。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ba0f/11172282/cb2a65cbd30e/ijms-25-05717-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ba0f/11172282/cb2a65cbd30e/ijms-25-05717-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ba0f/11172282/cb2a65cbd30e/ijms-25-05717-g001.jpg

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[6]
Evaluation and Comparison of Prognostic Multigene Tests in Early-Stage Breast Cancer: Which Is the Most Effective? A Literature Review Exploring Clinical Utility to Enhance Therapeutic Management in Luminal Patients.

Mol Carcinog. 2025-5

本文引用的文献

[1]
Real-world use of multigene signatures in early breast cancer: differences to clinical trials.

Breast Cancer Res Treat. 2024-5

[2]
Advances in breast cancer risk modeling: integrating clinics, imaging, pathology and artificial intelligence for personalized risk assessment.

Future Oncol. 2023-12

[3]
Advances in Early Breast Cancer Risk Profiling: From Histopathology to Molecular Technologies.

Cancers (Basel). 2023-11-15

[4]
Cost-utility analysis of genomic profiling in early breast cancer in Colombia.

Cost Eff Resour Alloc. 2023-7-10

[5]
Incorporating clinicopathological and molecular risk prediction tools to improve outcomes in early HR+/HER2- breast cancer.

NPJ Breast Cancer. 2023-6-28

[6]
Oncotype DX results increase concordance in adjuvant chemotherapy recommendations for early-stage breast cancer.

NPJ Breast Cancer. 2023-6-8

[7]
Multigene profiles to guide the use of neoadjuvant chemotherapy for breast cancer: a Copenhagen Breast Cancer Genomics Study.

NPJ Breast Cancer. 2023-5-31

[8]
Validation of the 70-gene signature test (MammaPrint) to identify patients with breast cancer aged ≥70 years with ultralow risk of distant recurrence: A population-based cohort study.

J Geriatr Oncol. 2023-6

[9]
In-house homologous recombination deficiency testing in ovarian cancer: a multi-institutional Italian pilot study.

J Clin Pathol. 2024-6-19

[10]
The central role of pathology labs in breast cancer precision oncology: a call for action.

NPJ Breast Cancer. 2023-1-25

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