研究人员表示这种方法能够在乳腺癌细胞对芳香酶抑制剂产生抵抗的早期阶段给予病人警告，芳香酶抑制剂是治疗雌激素受体阳性乳腺癌的常用药物。他们发现这种新方法能够检测雌激素受体基因ESR1发生的基因突变，特别是接受了芳香酶抑制剂治疗的女性，这种基因突变是导至雌激素受体阳性乳腺癌细胞对治疗药物产生抵抗的一个重要原因。 检测癌症病人血液中的DNA，发现基因突变能够帮助医生快速发现哪些病人不再获得治疗收益，从而改变治疗策略，选用其他替代药物进行治疗。 这项工作发表在国际学术期刊science translational medicine上。 在该项研究中，研究人员在三组独立的病人群体中证实了他们的结果，他们从171名雌激素受体阳性乳腺癌病人体内获得了血液样本，通过multiplexed digital PCR分析方法对病人血液样本中微量的循环肿瘤DNA进行了检测，发现了ESR1基因突变。一旦出现ESR1基因突变，突变癌细胞就会快速扩增并成为体内癌细胞的主要类型，导至乳腺癌恶性程度更高，发展更快。 研究人员表示这种检测方法与肿瘤活检同样灵敏，这两种方法能够达到97%的匹配率，并且该方法或可在将来取代侵袭性检测手段。 这种检测方法能够帮助医生对治疗失败进行早期预测，并帮助乳腺癌病人选择更加合理有效的治疗方法。  DOI: 10.1126/scitranslmed.aac7551 Analysis of ESR1 mutation in circulating tumor DNA demonstrates evolution during therapy for metastatic breast cancer Gaia Schiavon1,2,*, Sarah Hrebien1, Isaac Garcia-Murillas1, Rosalind J. Cutts1, Alex Pearson1, Noelia Tarazona1, Kerry Fenwick1, Iwanka Kozarewa1, Elena Lopez-Knowles1, Ricardo Ribas1, Ashutosh Nerurkar2, Peter Osin2, Sarat Chandarlapaty3, Lesley-Ann Martin1, Mitch Dowsett1,2, Ian E. Smith1,2 and Nicholas C. Turner A large number of breast cancers express the estrogen receptor, making them susceptible to hormonal treatments. Unfortunately, these tumors can develop mutations in the estrogen receptor gene (ESR1) and become resistant to hormonal therapies that were previously effective. Schiavon et al. used three independent cohorts of breast cancer patients to demonstrate that these mutations only evolved in cases where hormonal therapy was started late in the course of the disease, after development of metastasis, and not during the initial course of treatment. If these findings are confirmed in prospective clinical trials, then they will explain why starting hormonal treatment early decreases the risk of subsequent resistance to hormonal therapy. |
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