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Research Paper|Volume 12, Issue 2|pp 1446—1464

Immunological analyses reveal an immune subtype of uveal melanoma with a poor prognosis

Hui Pan1,2, Linna Lu1,2, Junqi Cui3, Yuan Yang1,2, Zhaoyang Wang1,2, Xianqun Fan1,2
  • 1Department of Ophthalmology, Ninth People’s Hospital, Shanghai JiaoTong University School of Medicine, Shanghai, China
  • 2Shanghai Key Laboratory of Orbital Diseases and Ocular Oncology, Shanghai, China
  • 3Department of Pathology, Ninth People’s Hospital, Shanghai JiaoTong University School of Medicine, Shanghai, China
* Co-first authors
Received: October 20, 2019Accepted: December 25, 2019Published: January 18, 2020
https://doi.org/10.18632/aging.102693

Copyright: © 2020 Pan et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

Abstract

Uveal melanoma is an aggressive intraocular malignancy that often exhibits low immunogenicity. Metastatic uveal melanoma samples frequently exhibit monosomy 3 or BAP1 deficiency. In this study, we used bioinformatic methods to investigate the immune infiltration of uveal melanoma samples in public datasets. We first performed Gene Set Enrichment/Variation Analyses to detect immunological pathways that are altered in tumors with monosomy 3 or BAP1 deficiency. We then conducted an unsupervised clustering analysis to identify distinct immunologic molecular subtypes of uveal melanoma. We used CIBERSORT and ESTIMATE with RNA-seq data from The Cancer Genome Atlas and the GSE22138 microarray dataset to determine the sample-level immune subpopulations and immune scores of uveal melanoma samples. The Kaplan-Meier method and log-rank test were used to assess the prognostic value of particular immune cells and genes in uveal melanoma samples. Through these approaches, we discovered uveal melanoma-specific immunologic features, which may provide new insights into the tumor microenvironment and enhance the development of immunotherapies in the future.