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Nat Genet. 2019 Jul;51(7):1123-1130. doi: 10.1038/s41588-019-0440-9. Epub 2019 Jun 28.

The genetic evolution of metastatic uveal melanoma.

Author information

1
Department of Dermatology, University of California San Francisco, San Francisco, CA, USA. alan.shain@ucsf.edu.
2
Helen Diller Family Comprehensive Cancer Center, University of California San Francisco, San Francisco, CA, USA. alan.shain@ucsf.edu.
3
Department of Ophthalmology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
4
Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
5
Department of Dermatology, University of California San Francisco, San Francisco, CA, USA.
6
Helen Diller Family Comprehensive Cancer Center, University of California San Francisco, San Francisco, CA, USA.
7
Department of Pathology, University of California San Francisco, San Francisco, CA, USA.
8
Department of Pathology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
9
Department of Dermatology, University of California San Francisco, San Francisco, CA, USA. boris.bastian@ucsf.edu.
10
Helen Diller Family Comprehensive Cancer Center, University of California San Francisco, San Francisco, CA, USA. boris.bastian@ucsf.edu.
11
Department of Pathology, University of California San Francisco, San Francisco, CA, USA. boris.bastian@ucsf.edu.
12
Department of Ophthalmology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark. jens.folke.kiilgaard@regionh.dk.

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.

PMID:
31253977
DOI:
10.1038/s41588-019-0440-9

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