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上皮性卵巢癌:上皮性卵巢癌的分子遗传学

Epithelial ovarian cancer: the molecular genetics of epithelial ovarian cancer.

作者信息

Krzystyniak J, Ceppi L, Dizon D S, Birrer M J

机构信息

Center for Cancer Research, Massachusetts General Hospital, Boston.

Division of Gynecologic Oncology, Massachusetts General Hospital Cancer Center, Boston Department of Medicine, Harvard Medical School, Boston, USA.

出版信息

Ann Oncol. 2016 Apr;27 Suppl 1(Suppl 1):i4-i10. doi: 10.1093/annonc/mdw083.

Abstract

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.

摘要

背景

尽管在过去三十年中诊断和治疗方面取得了进展,但上皮性卵巢癌(EOC)仍是全球女性癌症相关死亡的主要原因之一。现有的卵巢癌标志物临床相关性非常有限,这凸显了对新型预后生物标志物以及更好的预测因素的迫切需求,这些因素可能有助于对能够从更具针对性的方法中获益的患者进行分层。

患者与方法

EOC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基因异常的有力工具,包括对失调基因和异常激活的信号通路的研究。这些技术可以很好地补充成熟的临床组织病理学分析和肿瘤分级,并有望在未来带来更好、更个性化的治疗。通过EOC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,如手术治疗的成功率。最后,基因组分析可能有助于识别用于治疗规划的新型预测生物标志物。这些数据综合起来表明了一条在晚期卵巢癌治疗中取得进展的途径,并有望实现为卵巢癌女性提供个性化医疗的目标。

结论

通过大规模基因组研究,对EOC肿瘤发生和化疗耐药中基本分子事件的理解以及潜在生物标志物的发现可能会大大增强。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。

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