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

• DOI: 10.18632/aging.102693
• Publication Date: 2020-01-19T00:53:10Z
• Authors: Hui Pan; Linna Lu; Junqi Cui; Yuan Yang; Zhaoyang Wang; Xianqun Fan
• Keywords: Adult; Male; Uveal Neoplasms; Immunomodulation; 03 medical and health sciences; 0302 clinical medicine; Humans; Melanoma; Aged; Neoplasm Staging; Aged, 80 and over; Gene Expression Profiling; Tumor Suppressor Proteins; Immunity; Computational Biology; Middle Aged; Prognosis; 3. Good health; Mutation; Female; Neoplasm Grading; Ubiquitin Thiolesterase; Research Paper; Signal Transduction

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.