Alluri Prasanna G, Speers Corey, Chinnaiyan Arul M
Department of Radiation Oncology, University of Michigan Medical School, 1500 E. Medical Center Drive, B2-C445 UH, Ann Arbor, MI, 48109-5010, USA.
Michigan Center for Translational Pathology, University of Michigan Medical School, 1400 E. Medical Center Drive, 5316 CCC, Ann Arbor, MI, 48109-5940, USA.
Breast Cancer Res. 2014 Dec 12;16(6):494. doi: 10.1186/s13058-014-0494-7.
Endocrine therapy is the mainstay of treatment in estrogen receptor-positive breast cancers and significantly reduces disease recurrence and breast cancer-related mortality. However, acquired resistance to therapy has been noted in nearly one-third of women treated with tamoxifen and other endocrine therapies. Mutations in the estrogen receptor have long been speculated to play a role in endocrine therapy resistance but have been rarely detected. However, recent studies utilizing next-generation sequencing on estrogen receptor-positive, metastatic clinical samples have revealed that recurrent ESR1 mutations are far more frequent than previously thought and may play an important role in acquired endocrine therapy resistance. Here we review recent advances in detection and characterization of ESR1 mutations in advanced, endocrine therapy-resistant breast cancers.
内分泌治疗是雌激素受体阳性乳腺癌治疗的主要手段，可显著降低疾病复发率和乳腺癌相关死亡率。然而，在接受他莫昔芬和其他内分泌治疗的女性中，近三分之一出现了获得性治疗耐药。长期以来，人们推测雌激素受体突变在内分泌治疗耐药中起作用，但很少被检测到。然而，最近利用下一代测序技术对雌激素受体阳性转移性临床样本进行的研究表明，ESR1复发突变比以前认为的更为频繁，可能在获得性内分泌治疗耐药中起重要作用。在此，我们综述晚期内分泌治疗耐药乳腺癌中ESR1突变检测和特征描述的最新进展。
