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HER2阴性的乳腺癌中,越来越多革命性的个体化疗法已进入临床应用或试验阶段,例如CDK4/6抑制剂、免疫检查点抑制剂和PIK3CA抑制剂。这些治疗方案的选择主要取决于肿瘤是否存在基因组变异。因此,在疾病进展过程中通常需要进行分子谱分析。最常见的基因组变异发生在PI3K/AKT/mTOR/PTEN通路中。本综述讨论了与PI3K/AKT/mTOR/PTEN通路相关的基因变异,旨在从分子病理学家的视角帮助临床医生理解药物选择、耐药性或相互作用机制。