Epithelial ovarian cancer: the molecular genetics of epithelial ovarian cancer

Epithelial ovarian cancer: the molecular genetics of epithelial ovarian cancer
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卵巢上皮癌:卵巢上皮癌的分子遗传学

DOI:
10.1093/annonc/mdw083
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发表时间:
2016-04-01
期刊:
影响因子:
50.5
通讯作者:
Birrer, M. J.
Birrer, M. J.
中科院分区:
医学1区
文献类型:
--
作者:
Krzystyniak, J.;Ceppi, L.;Birrer, M. J.

文献摘要

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背景:上皮性卵巢癌(EOC)仍然是全球女性癌症相关死亡的主要原因之一,尽管过去30年来在诊断和治疗方面取得了进展。现有的卵巢癌标记物的临床意义非常有限,突出了识别新的预后生物标记物以及更好的预测因素的需求,这些因素可能会使患者分层,从而从更有针对性的方法中受益。患者和方法:EOC的分子遗传学概述。结果:大规模高通量基因组技术似乎是研究卵巢肿瘤遗传异常的有力工具,包括对异常基因和异常激活的信号通路的研究。这些技术可以补充完善的临床组织病理学分析和肿瘤分级,并有望在未来产生更好、更定制的治疗方法。通过EOC的基因表达谱获得的基因组特征可能能够预测生存结果和其他重要的临床结果,如手术治疗的成功。最后,基因组分析可以为治疗计划的目的识别新的预测生物标记物。这些数据结合起来提示了晚期卵巢癌治疗的进展途径,并有望实现为卵巢癌女性患者提供个性化药物的目标。结论:通过大规模基因组研究,可以极大地提高对EOC发生和化疗耐药的基本分子事件的理解,以及发现潜在的生物标志物。然而,为了最大限度地发挥这些技术的影响,需要进行广泛的验证研究。
Background: Epithelial ovarian cancer (EOC) remains one of the leading causes of cancer-related deaths among women worldwide, despite gains in diagnostics and treatments made over the last three decades. Existing markers of ovarian cancer possess very limited clinical relevance highlighting the emerging need for identification of novel prognostic biomarkers as well as better predictive factors that might allow the stratification of patients who could benefit from a more targeted approach.Patients and methods: A summary of molecular genetics of EOC.Results: Large-scale high-throughput genomic technologies appear to be powerful tools for investigations into the genetic abnormalities in ovarian tumors, including studies on dysregulated genes and aberrantly activated signaling pathways. Such technologies can complement well-established clinical histopathology analysis and tumor grading and will hope to result in better, more tailored treatments in the future. Genomic signatures obtained by gene expression profiling of EOC may be able to predict survival outcomes and other important clinical outcomes, such as the success of surgical treatment. Finally, genomic analyses may allow for the identification of novel predictive biomarkers for purposes of treatment planning. These data combined suggest a pathway to progress in the treatment of advanced ovarian cancer and the promise of fulfilling the objective of providing personalized medicine to women with ovarian cancer.Conclusions: The understanding of basic molecular events in the tumorigenesis and chemoresistance of EOC together with discovery of potential biomarkers may be greatly enhanced through large-scale genomic studies. In order to maximize the impact of these technologies, however, extensive validation studies are required.