Nelson William G, De Marzo Angelo M, Yegnasubramanian Srinivasan
Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, Maryland 21231-1000, USA.
Endocrinology. 2009 Sep;150(9):3991-4002. doi: 10.1210/en.2009-0573. Epub 2009 Jun 11.
Human prostate cancer cells carry a myriad of genome defects, including both genetic and epigenetic alterations. These changes, which can be maintained through mitosis, generate malignant phenotypes capable of selective growth, survival, invasion, and metastasis. During prostatic carcinogenesis, epigenetic changes arise earlier than genetic defects, linking the appearance of epigenetic alterations in some way to disease etiology. The most common genetic defect thus far described, leading to fusion transcripts between the androgen-regulated gene TMPRSS2 and genes from the ETS family of transcription factors, likely endows prostate cancer cells with the ability to co-opt androgen signaling, the major prostate differentiation pathway, to support the malignant phenotype. Whether epigenetic changes promote the appearance of TMPRSS2-ETS family fusion transcripts or collaborate with fusion transcript expression in the pathogenesis of prostate cancer has not been established. However, a growing list of epigenetic alterations has provided new opportunities for clinical tests that might aid in prostate cancer screening, detection, diagnosis, staging, and risk stratification. The epigenetic changes appear to be more attractive than genetic changes as prostate cancer biomarkers because epigenetic alterations are present in a greater fraction of prostate cancer cases than any of the known genetic defects. In addition, an emerging generation of assay strategies for detection of specific DNA sequences carrying (5-me)C, the major epigenetic genome mark, has pushed somatic epigenetic alterations to the forefront of molecular biomarker assay development for cancer. Finally, a growing portfolio of epigenetic drugs, capable of reversing the phenotypic consequences of somatic epigenetic defects, has entered clinical trials for prostate cancer in the search for a new rational therapy for the disease.
人类前列腺癌细胞存在大量基因组缺陷,包括基因和表观遗传改变。这些变化可通过有丝分裂维持,产生具有选择性生长、存活、侵袭和转移能力的恶性表型。在前列腺癌发生过程中,表观遗传变化比基因缺陷出现得更早,在某种程度上把表观遗传改变的出现与疾病病因联系起来。迄今为止所描述的最常见基因缺陷,导致雄激素调节基因TMPRSS2与ETS转录因子家族的基因之间形成融合转录本,这可能赋予前列腺癌细胞利用雄激素信号传导(主要的前列腺分化途径)来支持恶性表型的能力。表观遗传变化是否促进TMPRSS2 - ETS家族融合转录本的出现,或在前列腺癌发病机制中与融合转录本表达协同作用,目前尚未明确。然而,越来越多的表观遗传改变为可能有助于前列腺癌筛查、检测、诊断、分期和风险分层的临床试验提供了新机会。表观遗传变化作为前列腺癌生物标志物似乎比基因变化更具吸引力,因为与任何已知基因缺陷相比,表观遗传改变在更大比例的前列腺癌病例中存在。此外,新一代用于检测携带主要表观遗传基因组标记(5 - 甲基胞嘧啶)的特定DNA序列的检测策略,已将体细胞表观遗传改变推向癌症分子生物标志物检测开发的前沿。最后,越来越多能够逆转体细胞表观遗传缺陷表型后果的表观遗传药物已进入前列腺癌临床试验,以寻找针对该疾病的新的合理治疗方法。