丹麦哥本哈根大学医院Jens F. Kiilgaard团队揭示了转移性葡萄膜黑色素瘤的遗传进化规律，相关论文于2019年7月发表在《自然—遗传学》杂志上。

课题组人员对35名患者的原发性黑色素瘤及与之匹配的转移进行了多区DNA测序。该研究团队观察到了先前未知的的驱动突变，并确定了它们和已知的驱动突变进行选择的顺序。转移瘤的基因组改变与原发肿瘤不同；转移性传播有时在原发肿瘤发展的早期发生。他们的研究为这种黑色素瘤亚型的遗传学和进化提供了新的见解，为进展和治疗提供了潜在的生物标志物。

据悉，葡萄膜黑色素瘤是一种临床上独特且特别致命的黑色素瘤亚型，它起源于眼睛中的黑色素细胞。

附：英文原文

Title: The genetic evolution of metastatic uveal melanoma

Author: A. Hunter Shain, Mette M. Bagger, Richard Yu, Darwin Chang, Shanshan Liu, Swapna Vemula, Jingly F. Weier, Karin Wadt, Steffen Heegaard, Boris C. Bastian, Jens F. Kiilgaard

Issue&Volume: Volume 51 Issue 7, July 2019

Abstract: Uveal melanoma is a clinically distinct and particularly lethal subtype of melanoma originating from melanocytes in the eye. Here, we performed multi-region DNA sequencing of primary uveal melanomas and their matched metastases from 35 patients. We observed previously unknown driver mutations and established the order in which these and known driver mutations undergo selection. Metastases had genomic alterations distinct from their primary tumors; metastatic dissemination sometimes occurred early during the development of the primary tumor. Our study offers new insights into the genetics and evolution of this melanoma subtype, providing potential biomarkers for progression and therapy.

DOI: 10.1038/s41588-019-0440-9

Source: https://www.nature.com/articles/s41588-019-0440-9