葡萄膜黑色素瘤基因突变、染色体变异与预后

Gene mutations,chromosome aberrations and prognosis of uveal melanoma

葡萄膜黑色素瘤（UM）的发病率仅次于皮肤黑色素瘤，是成人常见的原发性眼内恶性肿瘤。近年来的研究认为，UM的发生与基因突变、染色体变异、分子通路的异常改变等有关，其中发生突变的基因包括GNAQ基因、GNAlJ基因、微小RNA（miRNA）（miR-34a、miR-182、miR-137）等。基因GNAQ、GNA11的突变，通过激活相关通路，如MEK／ATK途径，导致UM的转移，影响肿瘤的预后；不同的微小RNA（miRNA）靶定相应的基因，并通过相应的通路影响肿瘤的预后；还有端粒酶逆转录酶基因的突变都通过调节特定的分子通路影响肿瘤的发生、发展、转移及预后。分子遗传学研究证实，大多数UM患者存在1、3、6、8、9号染色体的改变，导致染色体发生缺失或增加使肿瘤更易发生侵袭和转移。本文总结UM预后的基因突变与染色体变异，为UM的治疗提供新的靶点。

Incidence of Uveal melanoma （UM） , is only secondary to cutaneous melanoma and is common primary intraocular malignant tumor of in adults. Recent studies suggest that its occurrence is related with gene mutation,chromosome aberrations and molecular pathway abnormalities. The mutations include GNAQ gene, GNAll gene,microRNA （miRNA） （miR-34a, miR-182, miR-137）. Mutations of GNAQ gene and GNAll gene activate relevant pathways, such as MEK/ATK pathway,to promote UM metastasis, which makes the poor prognosis. Different miRNAs target the correspending genes and affect the prognosis. And the mutations of tclomerase reverse transcriptase,all of them adjust the specific molecular pathways to affect tumor occurrence, development, metastasis and prognosis. Molecular genetic studies confirm that most patients with UM have chromosome 1,3,6,8,9 alterations, making the chromosome gain or less,leading to more susceptible invasion and metastasis and influencing prognosis. This paper reviewed the gene mutation and chromosome aberrations in order to provide new targets for the treatment of UM.