Seedor Rino S, Orloff Marlana, Sato Takami
Department of Medical Oncology, Sidney Kimmel Cancer Center, Thomas Jefferson University, Philadelphia, PA 19107, USA.
Cancers (Basel). 2021 Nov 2;13(21):5503. doi: 10.3390/cancers13215503.
Despite successful treatment of primary uveal melanoma, up to 50% of patients will develop systemic metastasis. Metastatic disease portends a poor outcome, and no adjuvant or metastatic therapy has been FDA approved. The genetic landscape of uveal melanoma is unique, providing prognostic and potentially therapeutic insight. In this review, we discuss our current understanding of the molecular and cytogenetic mutations in uveal melanoma, and the importance of obtaining such information. Most of our knowledge is based on primary uveal melanoma and a better understanding of the mutational landscape in metastatic uveal melanoma is needed. Clinical trials targeting certain mutations such as /, , and are ongoing and promising. We also discuss the role of liquid biopsies in uveal melanoma in this review.
尽管原发性葡萄膜黑色素瘤得到了成功治疗，但仍有高达50%的患者会发生全身转移。转移性疾病预后不良，且尚无辅助治疗或转移性治疗获得美国食品药品监督管理局（FDA）批准。葡萄膜黑色素瘤的基因图谱独特，为预后和潜在治疗提供了见解。在本综述中，我们讨论了目前对葡萄膜黑色素瘤分子和细胞遗传学突变的理解，以及获取此类信息的重要性。我们的大部分知识基于原发性葡萄膜黑色素瘤，需要更好地了解转移性葡萄膜黑色素瘤的突变图谱。针对某些突变（如/、和）的临床试验正在进行中，且前景广阔。在本综述中，我们还讨论了液体活检在葡萄膜黑色素瘤中的作用。
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