Clatot Florian, Perdrix Anne, Sefrioui David, Sarafan-Vasseur Nasrin, Di Fiore Frédéric
Centre Henri-Becquerel, département d'oncologie médicale, CS11516 rue d'Amiens, 76000 Rouen, France; Rouen University Hospital, IRON/Inserm U1245, 22, boulevard Gambetta, 76183 Rouen, France.
Rouen University Hospital, IRON/Inserm U1245, 22, boulevard Gambetta, 76183 Rouen, France; Centre Henri-Becquerel, département de bio-pathologie, CS11516 rue d'Amiens, 76000 Rouen, France.
Bull Cancer. 2018 Jan;105(1):46-54. doi: 10.1016/j.bulcan.2017.09.002. Epub 2017 Oct 9.
If hormone therapy is a key treatment for hormone receptor positive advanced breast cancers, secondary resistance occurs as a rule. Recently, acquired alterations of the ESR1 gene have been identified as a mechanism of resistance on aromatase inhibitor (AI) treatment. The selective pressure by AI exposure during the metastatic setting triggers the emergence of ESR1 activating mutations. In that context, the "liquid biopsy" concept has been used to detect this molecular resistance before progression. Thus, the ESR1 circulating mutation detection will soon be used in daily practice to help monitoring patients on AI treatment and provide an early change for specific therapies that still have to be determined in prospective clinical trials. This review will present the acquired ESR1 mutations, as well as the methods used for their detection in blood and the potential clinical impact of this approach for hormone receptor positive breast cancer management.
如果激素疗法是激素受体阳性晚期乳腺癌的关键治疗方法，那么继发性耐药通常会出现。最近，ESR1基因的获得性改变已被确定为芳香化酶抑制剂（AI）治疗耐药的一种机制。转移期AI暴露产生的选择性压力会触发ESR1激活突变的出现。在这种情况下，“液体活检”概念已被用于在疾病进展前检测这种分子耐药性。因此，ESR1循环突变检测很快将用于日常实践，以帮助监测接受AI治疗的患者，并为仍需在前瞻性临床试验中确定的特定疗法提供早期改变依据。本综述将介绍获得性ESR1突变，以及在血液中检测这些突变的方法，以及这种方法对激素受体阳性乳腺癌管理的潜在临床影响。
