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结直肠癌中的生物标志物:当前临床应用及未来展望

Biomarkers in colorectal cancer: Current clinical utility and future perspectives.

作者信息

Vacante Marco, Borzì Antonio Maria, Basile Francesco, Biondi Antonio

机构信息

Department of General Surgery and Medical-Surgical Specialties, University of Catania, Catania 95123, Italy.

出版信息

World J Clin Cases. 2018 Dec 6;6(15):869-881. doi: 10.12998/wjcc.v6.i15.869.

Abstract

Colorectal cancer (CRC) is a major cause of cancer death worldwide. CRC has poor prognosis and there is a crucial need for new diagnostic and prognostic biomarkers to avoid CRC-related deaths. CRC can be considered a sporadic disease in most cases (75%-80%), but it has been suggested that crosstalk between gene mutations (., mutations of , , and as well as microsatellite instability) and epigenetic alterations (., DNA methylation of CpG island promoter regions) could play a pivotal role in cancer development. A number of studies have focused on molecular testing to guide targeted and conventional treatments for patients with CRC, sometimes with contrasting results. Some of the most useful innovations in the management of CRC include the possibility to detect the absence of , , and gene mutations with the subsequent choice to administer targeted adjuvant therapy with anti-epidermal growth factor receptor antibodies. Moreover, CRC patients can benefit from tests for microsatellite instability and for the detection of loss of heterozygosity of chromosome 18q that can be helpful in guiding therapeutic decisions as regards the administration of 5-FU. The aim of this review was to summarize the most recent evidence on the possible use of genetic or epigenetic biomarkers for diagnosis, prognosis and response to therapy in CRC patients.

摘要

结直肠癌(CRC)是全球癌症死亡的主要原因。CRC预后较差,迫切需要新的诊断和预后生物标志物以避免与CRC相关的死亡。在大多数情况下(75%-80%),CRC可被视为散发性疾病,但有研究表明基因突变(如、、和的突变以及微卫星不稳定性)与表观遗传改变(如CpG岛启动子区域的DNA甲基化)之间的相互作用可能在癌症发展中起关键作用。许多研究聚焦于分子检测,以指导CRC患者的靶向治疗和传统治疗,但其结果有时相互矛盾。CRC管理中一些最有用的创新包括检测、、和基因是否缺失,并据此选择使用抗表皮生长因子受体抗体进行靶向辅助治疗。此外,CRC患者可受益于微卫星不稳定性检测以及18号染色体长臂杂合性缺失检测,这有助于指导5-氟尿嘧啶给药方面的治疗决策。本综述的目的是总结关于遗传或表观遗传生物标志物在CRC患者诊断、预后及治疗反应中可能应用的最新证据。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c057/6288499/48019973b303/WJCC-6-869-g001.jpg

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