Department of Oncology, Lombardi Comprehensive Cancer Center, Georgetown University, Washington, DC 20057, USA.
Laboratory Genetics and Physiology, NIDDK, NIH, Bethesda, MD 20892, USA Department of Microbiology, Dankook University, Cheonan 330-714, Republic of Korea.
Carcinogenesis. 2015 Jan;36(1):122-32. doi: 10.1093/carcin/bgu237. Epub 2014 Nov 23.
Response to breast cancer chemoprevention can depend upon host genetic makeup and initiating events leading up to preneoplasia. Increased expression of aromatase and estrogen receptor (ER) is found in conjunction with breast cancer. To investigate response or resistance to endocrine therapy, mice with targeted overexpression of Esr1 or CYP19A1 to mammary epithelial cells were employed, representing two direct pathophysiological interventions in estrogen pathway signaling. Both Esr1 and CYP19A1 overexpressing mice responded to letrozole with reduced hyperplastic alveolar nodule prevalence and decreased mammary epithelial cell proliferation. CYP19A1 overexpressing mice were tamoxifen sensitive but Esr1 overexpressing mice were tamoxifen resistant. Increased ER expression occurred with tamoxifen resistance but no consistent changes in progesterone receptor, pSTAT3, pSTAT5, cyclin D1 or cyclin E levels in association with response or resistance were found. RNA-sequencing (RNA-seq) was employed to seek a transcriptome predictive of tamoxifen resistance using these models and a second tamoxifen-resistant model, BRCA1 deficient/Trp53 haploinsufficient mice. Sixty-eight genes associated with immune system processing were upregulated in tamoxifen-resistant Esr1- and Brca1-deficient mice, whereas genes related to aromatic compound metabolic process were upregulated in tamoxifen-sensitive CYP19A1 mice. Interferon regulatory factor 7 was identified as a key transcription factor regulating these 68 immune processing genes. Two loci encoding novel transcripts with high homology to human immunoglobulin lambda-like polypeptide 1 were uniquely upregulated in the tamoxifen-resistant models. Letrozole proved to be a successful alternative to tamoxifen. Further study of transcriptional changes associated with tamoxifen resistance including immune-related genes could expand our mechanistic understanding and lead to biomarkers predictive of escape or response to endocrine therapies.
针对乳腺癌的化学预防效果可能取决于宿主的基因构成和导致癌前病变的起始事件。芳香酶和雌激素受体 (ER) 的表达增加与乳腺癌有关。为了研究内分泌治疗的反应或耐药性,我们使用了靶向过表达 Esr1 或 CYP19A1 到乳腺上皮细胞的小鼠,这两种方法代表了两种直接的生理病理学干预雌激素途径信号。Esr1 和 CYP19A1 过表达小鼠对来曲唑的反应是增生性肺泡结节的发生率降低和乳腺上皮细胞增殖减少。CYP19A1 过表达小鼠对他莫昔芬敏感,但 Esr1 过表达小鼠对他莫昔芬耐药。他莫昔芬耐药时 ER 表达增加,但与反应或耐药性相关的孕激素受体、pSTAT3、pSTAT5、细胞周期蛋白 D1 或细胞周期蛋白 E 水平没有一致变化。我们使用这些模型和另一个他莫昔芬耐药模型 BRCA1 缺陷/Trp53 杂合不足小鼠,进行了 RNA 测序 (RNA-seq),以寻找一种预测他莫昔芬耐药的转录组。与 Esr1 过表达和 Brca1 缺陷小鼠的他莫昔芬耐药相关的 68 个基因与免疫系统处理有关,而与芳香族化合物代谢过程相关的基因在他莫昔芬敏感的 CYP19A1 小鼠中上调。干扰素调节因子 7 被确定为调节这些 68 个免疫处理基因的关键转录因子。两个编码具有与人免疫球蛋白 lambda 样多肽 1 高度同源的新型转录本的基因座在他莫昔芬耐药模型中唯一上调。来曲唑被证明是他莫昔芬的成功替代品。进一步研究与他莫昔芬耐药相关的转录变化,包括免疫相关基因,可以扩展我们对耐药机制的理解,并导致预测内分泌治疗逃逸或反应的生物标志物。