结膜黑色素细胞肿瘤的遗传改变和相关靶向治疗的最新发现。

IF 1 Q4 OPHTHALMOLOGY
Taiwan Journal of Ophthalmology Pub Date : 2025-03-06 eCollection Date: 2025-01-01 DOI:10.4103/tjo.TJO-D-24-00109
Lei-Chi Wang, Chieh-Chih Tsai, Tai-Chi Lin, Narsing A Rao
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引用次数: 0

摘要

由于测序技术的进步,许多人类恶性肿瘤的分子景观已经被阐明。然而,与皮肤黑色素细胞肿瘤不同,结膜黑色素细胞肿瘤的发病率更高,作为研究对象的患者也更多,结膜黑色素细胞肿瘤的研究较少,证据主要局限于病例报告或病例系列。本综述旨在总结和更新结膜黑色素细胞病变中基于世界卫生组织第五版眼睛肿瘤分类中列出的诊断的遗传改变的发现。这些包括结膜普通痣、结膜蓝痣、结膜wnt激活的深穿透性/丛状黑素细胞瘤(痣)、结膜黑素细胞上皮内病变和结膜黑色素瘤。我们也回顾了遗传改变在结膜黑色素瘤的发展和进展中的作用。此外,我们比较了结膜黑色素瘤与皮肤黑色素瘤的遗传改变,并讨论了针对局部晚期或转移性结膜黑色素瘤的特异性靶向治疗,如BRAF抑制剂、MEK抑制剂和免疫疗法。总之,本文综述了结膜黑色素细胞病变的遗传改变和相关治疗策略的最新进展,包括良性、癌前和恶性疾病。结膜黑色素瘤和皮肤黑色素瘤之间的相似之处可能为结膜黑色素瘤的未来研究和临床试验提供启示。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Current findings of genetic alterations and associated targeted therapies of conjunctival melanocytic neoplasms.

The molecular landscape of numerous human malignancies has been elucidated since the advances in sequencing techniques. However, unlike their cutaneous counterparts, which have a higher incidence and more affected patients as study subjects, conjunctival melanocytic neoplasms are less studied, with evidence mainly restricted to case reports or case series. This review aims to summarize and update findings on genetic alterations in conjunctival melanocytic lesions based on the diagnoses listed in the fifth edition of the World Health Organization classification of the tumors of the eye. These include conjunctival common nevus, conjunctival blue nevus, conjunctival WNT-activated deep penetrating/plexiform melanocytoma (nevus), conjunctival melanocytic intraepithelial lesions, and conjunctival melanoma. We also review the role of genetic alterations in the development and progression of conjunctival melanoma. Furthermore, we compare the genetic alterations of conjunctival melanoma with those of cutaneous melanoma and discuss specific targeted therapies such as BRAF inhibitors, MEK inhibitors, and immunotherapies for localized advanced or metastatic conjunctival melanoma. In conclusion, this article reviews recent advances in genetic alterations and associated treatment strategies for conjunctival melanocytic lesions, including benign, premalignant, and malignant diseases. The similarities between conjunctival and cutaneous melanoma may shed a light on future studies and clinical trials focused on conjunctival melanoma.

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来源期刊
CiteScore
1.80
自引率
9.10%
发文量
68
审稿时长
19 weeks
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