三阴性乳腺癌诊断、分子分型和治疗的进展

Advances in Diagnosis, Molecular Typing, and Treatment of Triple-Negative Breast Cancer

摘要: 三阴性乳腺癌(TNBC)是一种侵袭性乳腺癌亚型，通常以缺乏雌激素受体(ER)、孕激素受体(PR)和人表皮生长因子受体-2 (HER2)为特征，约占所有乳腺癌的15%~20%。与其他分子表型相比，TNBC通常与高恶性和不良预后相关。在DNA水平上整合组学知识，进一步扩大了对乳腺癌的生物学认识，这是临床上三阴性肿瘤的迫切需求。由于缺乏明确的靶点和有限的治疗干预措施，细胞毒性药物在过去几十年中一直是治疗的主要手段。然而，最近的发展表明，TNBC具有特殊的分子分类和生物标志物，这为从基本的细胞毒性化疗发展到扩大靶向治疗领域提供了可能性。随着检测技术的不断发展和对TNBC分子亚型研究的不断深入，出现了针对免疫检查点和不同靶点的药物，如抗体–药物偶联物等。这些疗法为TNBC的治疗提供了新的希望。本文在对TNBC进行分析和分类的基础上，总结了免疫治疗与新的治疗组合，为今后TNBC的精准治疗提供参考。

Abstract: Triple-negative breast cancer (TNBC) is an aggressive subtype of breast cancer that is typically characterized by a lack of estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor-2 (HER2) and accounts for approximately 15% to 20% of all breast cancers. TNBC is often associated with high malignancy and poor prognosis compared to other molecular phenotypes. Integrating omics knowledge at the DNA level further expands the biological understanding of breast cancer, which is urgently needed in the clinical setting of triple-negative tumors. Due to the lack of clear targets and limited therapeutic interventions, cytotoxic drugs have been the mainstay of treatment in the past decades. However, recent developments have shown that TNBC has a specific molecular classification and biomarkers, which opens up the possibility of moving from basic cytotoxic chemotherapy to expanding the field of targeted therapy. With the continuous development of detection technology and the deepening of research on the molecular subtypes of TNBC, drugs targeting immune checkpoints and different targets, such as antibody-drug conjugates, have emerged. These therapies provide new hope for the treatment of TNBC. Based on the analysis and classification of TNBC, this article summarizes the immunotherapy and new treatment combinations, so as to provide reference for the precise treatment of TNBC in the future.