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葡萄膜黑色素瘤的遗传预后。

Genetic prognostication in uveal melanoma.

机构信息

Department of Ophthalmology, Leiden University Medical Center, Leiden, The Netherlands.

出版信息

Acta Ophthalmol. 2018 Jun;96(4):331-347. doi: 10.1111/aos.13580. Epub 2017 Nov 4.

Abstract

Uveal melanoma (UM) is a rare tumour with a high propensity to metastasize. Although no effective treatment for metastases yet exists, prognostication in UM is relevant for patient counselling, planning of follow-up and stratification in clinical trials. Besides conventional clinicopathologic characteristics, genetic tumour features with prognostic significance have been identified. Non-random chromosome aberrations such as monosomy 3 and gain of chromosome 8q are strongly correlated with metastatic risk, while gain of chromosome 6p indicates a low risk. Recently, mutations in genes such as BAP1, SF3B1 and EIF1AX have been shown to be related to patient outcome. Genetics of UM is a rapidly advancing field, which not only contributes to the understanding of the pathogenesis of this cancer, but also results in further refinement of prognostication. Concomitantly, advances have been made in the use of genetic tests. New methods for genetic typing of UM have been developed. Despite the considerable progress made recently, many questions remain, such as those relating to the reliability of prognostic genetic tests, and the use of biopsied or previously irradiated tumour tissue for prognostication by genetic testing. In this article, we review genetic prognostic indicators in UM, also comparing available genetic tests, addressing the clinical application of genetic prognostication and discussing future perspectives for improving genetic prognostication in UM.

摘要

葡萄膜黑色素瘤(UM)是一种罕见的易转移肿瘤。尽管目前尚无有效的转移性治疗方法,但 UM 的预后对于患者咨询、随访计划和临床试验分层具有重要意义。除了传统的临床病理特征外,还确定了具有预后意义的遗传肿瘤特征。非随机染色体异常,如 3 号单体和 8q 染色体增益,与转移风险密切相关,而 6p 染色体增益则提示风险较低。最近,已经证明 BAP1、SF3B1 和 EIF1AX 等基因突变与患者预后相关。UM 的遗传学是一个快速发展的领域,不仅有助于理解这种癌症的发病机制,而且还进一步完善了预后。同时,遗传检测的应用也取得了进展。已经开发出用于 UM 基因分型的新方法。尽管最近取得了相当大的进展,但仍有许多问题亟待解决,例如与预后遗传检测的可靠性相关的问题,以及使用活检或以前照射过的肿瘤组织进行遗传检测以预测预后的问题。在本文中,我们回顾了 UM 中的遗传预后指标,比较了可用的遗传检测方法,讨论了遗传预后的临床应用,并探讨了改善 UM 中遗传预后的未来前景。

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