Department of Ophthalmology, Erasmus Medical Center, 3015 GD Rotterdam, The Netherlands.
Department of Clinical Genetics, Erasmus Medical Center, 3015 GD Rotterdam, The Netherlands.
Int J Mol Sci. 2020 Dec 30;22(1):336. doi: 10.3390/ijms22010336.
Ocular melanoma consists of posterior uveal melanoma, iris melanoma and conjunctival melanoma. These malignancies derive from melanocytes in the uveal tract or conjunctiva. The genetic profiles of these different entities differ from each other. In uveal melanoma, and gene mutations are frequently found and prognosis is based on mutation status of , and genes. Iris melanoma, also originating from the uvea, has similarities to the genetic makeups of both posterior uveal melanoma (UM) and conjunctival melanoma since mutations in and are less common and genes involved in conjunctival melanoma such as have been described. The genetic spectrum of conjunctival melanoma, however, includes frequent mutations in the , and promoter genes, which are found in cutaneous melanoma as well. The status of the tumor is not correlated to prognosis, whereas the promoter gene mutations are. Clinical presentation, histopathological characteristics and copy number alterations are associated with survival in ocular melanoma. Tissue material is needed to classify ocular melanoma in the different subgroups, which creates a need for the use of noninvasive techniques to prognosticate patients who underwent eye preserving treatment.
眼黑色素瘤包括脉络膜黑色素瘤、虹膜黑色素瘤和结膜黑色素瘤。这些恶性肿瘤来源于葡萄膜或结膜的黑色素细胞。这些不同实体的遗传特征彼此不同。在脉络膜黑色素瘤中，经常发现 和 基因突变，预后基于 、 和 基因突变状态。起源于葡萄膜的虹膜黑色素瘤与脉络膜黑色素瘤（UM）和结膜黑色素瘤的遗传构成相似，因为 和 基因突变较少见，而结膜黑色素瘤中涉及的基因，如 ，已有描述。然而，结膜黑色素瘤的遗传谱包括 在 、 和 启动子基因中的频繁突变，这些突变也存在于皮肤黑色素瘤中。肿瘤的 状态与预后无关，而 启动子基因突变与预后相关。临床表型、组织病理学特征和拷贝数改变与眼黑色素瘤的生存相关。为了对不同亚组的眼黑色素瘤进行分类，需要组织材料，这就需要使用非侵入性技术来预测接受保眼治疗的患者。
