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Paired comparisons of mutational profiles before and after brachytherapy in asian uveal melanoma patients

 Woo Seung Lee  ;  Junwon Lee  ;  Jun Jeong Choi  ;  Hyun Goo Kang  ;  Sung Chul Lee  ;  Ju Han Kim 
 SCIENTIFIC REPORTS, Vol.11(1) : 18594, 2021-09 
Journal Title
Issue Date
Adult ; Aged ; Asia ; Brachytherapy* ; DNA Mutational Analysis ; Female ; GTP-Binding Protein alpha Subunits / genetics ; GTP-Binding Protein alpha Subunits, Gq-G11 / genetics ; Humans ; Male ; Matched-Pair Analysis ; Melanoma / genetics* ; Melanoma / pathology ; Melanoma / radiotherapy ; Middle Aged ; Mutation* ; Phosphoproteins / genetics ; RNA Splicing Factors / genetics ; Receptors, Leukotriene / genetics ; Tumor Suppressor Proteins / genetics ; Ubiquitin Thiolesterase / genetics ; Uveal Neoplasms / genetics* ; Uveal Neoplasms / pathology ; Uveal Neoplasms / radiotherapy
Uveal melanoma(UM) is the most common primary intraocular malignancy in adults. However, the incidence of UM in Asia is 10 to 20 times less than in Western populations. Therefore, for the first time, we report our whole exome sequencing (WES) data analysis to discover differences in the molecular features of Asian and Western UM, and to determine the disparities between the primary tumor before brachytherapy and enucleated samples after brachytherapy. WES of 19 samples (13 primary tumors, 5 enucleation samples after brachytherapy, and 1 liver metastasis) from 13 patients diagnosed with UM and treated between 2007 and 2019 at the Yonsei University Health System (YUHS) were analyzed using bioinformatics pipelines. We identified significantly altered genes in Asian UM and changes in mutational profiles before and after brachytherapy using various algorithms. GNAQ, BAP1, GNA11, SF3B1 and CYSLTR2 were significantly mutated in Asian UM, which is similar that reported frequently in previous Western-based UM studies. There were also similar copy number alterations (M3, 1p loss, 6p gain, 8q gain) in both groups. In paired comparisons of the same patients, DICER1 and LRP1B were distinctly mutated only in tumor samples obtained after brachytherapy using rare-variant association tests (P = 0.01, 0.01, respectively). The mutational profiles of Asian UM were generally similar to the data from previous Western-based studies. DICER1 and LRP1B were newly mutated genes with statistical significance in the regrowth samples after brachytherapy compared to the primary tumors, which may be related to resistance to brachytherapy.
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1. College of Medicine (의과대학) > Dept. of Ophthalmology (안과학교실) > 1. Journal Papers
Yonsei Authors
Kang, Hyun Goo(강현구) ORCID logo https://orcid.org/0000-0001-8359-9618
Lee, Jun Won(이준원) ORCID logo https://orcid.org/0000-0003-0543-7132
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