The genetics of uveal melanoma: current insights.
The genetics of uveal melanoma: current insights.
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DOI：
10.2147/tacg.s69210
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发表时间：
2016
期刊：
影响因子：
--
通讯作者：
Höiom V
中科院分区：
文献类型：
--
作者：
Helgadottir H;Höiom V
葡萄膜黑色素瘤（UM）是成人中最常见的恶性眼部肿瘤，全球每年影响约7，000人。UM是一种罕见的黑色素瘤亚型，与其他黑色素瘤亚型相比具有独特的临床和分子特征。UM缺乏最典型的皮肤黑色素瘤相关突变（BRAF、NRAS和NF 1），而是以一组不同的基因为特征，这些基因具有致癌或功能丧失突变。通过对UM肿瘤的下一代测序工作，已经检测到几个驱动基因。最常见的是BAP 1，EIF1AX，GNA11，GNAQ和SF3B1。在许多情况下，这些基因中的突变以相互排斥的方式出现，具有不同的转移风险，因此具有预后重要性。大多数UM病例是散发性的，但少数病例发生在具有这种恶性肿瘤遗传易感性的家族中。近年来，已发现BAP1基因的生殖系突变以常染色体显性模式与许多不同的癌症类型分离，包括癌症易感家族中的UM。这种癌症综合征被称为肿瘤易感综合征。
Uveal melanoma (UM) is the most common malignant eye tumor in adults affecting ~7,000 individuals per year worldwide. UM is a rare subtype of melanoma with distinct clinical and molecular features as compared to other melanoma subtypes. UMs lack the most typical cutaneous melanoma-associated mutations (BRAF, NRAS, and NF1) and are instead characterized by a different set of genes with oncogenic or loss-of-function mutations. By next-generation sequencing efforts on UM tumors, several driver genes have been detected. The most frequent ones are BAP1, EIF1AX, GNA11, GNAQ, and SF3B1. In many cases, mutations in these genes appear in a mutually exclusive manner, have different risk of metastasis, and are consequently of prognostic importance. The majority of UM cases are sporadic but a few percentage of the cases occurs in families with an inherited predisposition for this malignancy. In recent years, germline mutations in the BAP1 gene have been found to segregate in an autosomal dominant pattern with numerous different cancer types including UM in cancer-prone families. This cancer syndrome has been denoted as the tumor predisposition syndrome.