The genetic evolution of metastatic uveal melanoma

Autor: Richard Yu, Shanshan Liu, Jingly F. Weier, Boris C. Bastian, Steffen Heegaard, Jens Folke Kiilgaard, Karin Wadt, Mette Bagger, A. Hunter Shain, Darwin Chang, Swapna S. Vemula
Rok vydání: 2018
Předmět:
Zdroj: Nature genetics
Nature genetics, vol 51, iss 7
ISSN: 1546-1718
Popis: 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 novel driver mutations and established the order in which these and known driver mutations undergo selection. Metastases had genomic alterations distinct from their primary tumors, and 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.
Editorial summary: Multi-region sequencing of 35 primary uveal melanomas and their matched metastases yields new insights into the genetics and evolution of these tumors and provides potential biomarkers for progression and therapy.
Databáze: OpenAIRE