Liu Liu, Graff Stephanie L, Wang Yihong
Department of Pathology and Laboratory Medicine, Rhode Island Hospital and Brown University Health, Providence, RI 02903, USA.
Legorreta Cancer Center, Warren Alpert School of Medicine, Brown University, Providence, RI 02903, USA.
Cancers (Basel). 2024 Dec 24;17(1):16. doi: 10.3390/cancers17010016.
In hormone receptor-positive and HER2-negative breast cancers, a growing number of revolutionary personalized therapies are in clinical use or trials, such as CDK4/6 inhibitors, immune checkpoint inhibitors, and PIK3CA inhibitors. Those treatment options are largely driven by the presence or absence of genomic alterations in the tumor. Therefore, molecular profiling is often performed during disease progression. The most encountered genomic alterations are in the PI3K/AKT/mTOR/PTEN pathway. This review discusses the genetic alterations associated with the PI3K/AKT/mTOR/PTEN pathway to help clinicians understand drug selection, resistance, or interaction from a molecular pathologist's perspective.
在激素受体阳性且人表皮生长因子受体2阴性的乳腺癌中,越来越多具有变革性的个性化疗法正在临床应用或进行试验,如细胞周期蛋白依赖性激酶4/6(CDK4/6)抑制剂、免疫检查点抑制剂和磷脂酰肌醇-3激酶(PIK3CA)抑制剂。这些治疗选择在很大程度上取决于肿瘤中基因组改变的存在与否。因此,在疾病进展过程中通常会进行分子谱分析。最常见的基因组改变存在于磷脂酰肌醇-3激酶/蛋白激酶B/哺乳动物雷帕霉素靶蛋白/磷酸酶和张力蛋白同源物(PI3K/AKT/mTOR/PTEN)信号通路中。本综述讨论了与PI3K/AKT/mTOR/PTEN信号通路相关的基因改变,以帮助临床医生从分子病理学家的角度理解药物选择、耐药性或相互作用。