Improved Uveal Melanoma Copy Number Subtypes Including an Ultra-High-Risk Group.

ABSTRACT:

Purpose

To evaluate the clinical relevance of low-frequency copy number aberrations (CNAs) in uveal melanoma (UM) and to discern residual genomic and clinical heterogeneity within established molecular subtypes based on genome-wide CNA profiling of 921 primary tumors.

Design

Retrospective single-center case series.

Participants

Patients with primary UM referred for genetic testing between 2008 and 2016 (n = 921). The Cancer Genome Atlas cohort with clinical outcome data available (n = 70) was used to validate findings.

Methods

Genome-wide CNAs were generated for primary tumors from 921 patients and for 19 metastatic UM (mUM) in the liver. Of the 921 patients, metastatic outcome was known for 678 patients with a median time to metastasis of 4.5 years. The primar

SUBMITTER: Lalonde E 

PROVIDER: S-EPMC9559896 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature