{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T13:29:27Z","timestamp":1790688567740,"version":"4.1.0"},"reference-count":36,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2022,6,2]],"date-time":"2022-06-02T00:00:00Z","timestamp":1654128000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000054","name":"Berle &amp; Lucy Adams Chair in Cancer Research, National Cancer Institute of the National Institute of Health","doi-asserted-by":"publisher","award":["K08CA232344"],"award-info":[{"award-number":["K08CA232344"]}],"id":[{"id":"10.13039\/100000054","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Knights Templar Eye Foundations","award":["K08CA232344"],"award-info":[{"award-number":["K08CA232344"]}]},{"name":"Dr. Miriam and Sheldon G. Adelson Medical Research Foundation","award":["K08CA232344"],"award-info":[{"award-number":["K08CA232344"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Tumor biopsy can identify prognostic biomarkers for metastatic uveal melanoma (UM), however aqueous humor (AH) liquid biopsy may serve as an adjunct. This study investigated whether the AH of UM eyes has sufficient circulating tumor DNA (ctDNA) to perform genetic analysis. This is a case series of 37 AH samples, taken before or after radiation, and one tumor wash sample, from 12 choroidal and 8 ciliary body (CB) melanoma eyes. AH was analyzed for nucleic acid concentrations. AH DNA and one tumor wash sample underwent shallow whole-genome sequencing followed by Illumina sequencing to detect somatic copy number alterations (SCNAs). Four post-radiation AH underwent targeted sequencing of BAP1 and GNAQ genes. Post-radiation AH had significantly higher DNA and miRNA concentrations than paired pre-radiation samples. Highly recurrent UM SCNAs were identified in 0\/11 post-radiation choroidal and 6\/8 post-radiation CB AH. SCNAs were highly concordant in a CB post-radiation AH with its matched tumor (r = 0.978). BAP1 or GNAQ variants were detected in 3\/4 post-radiation AH samples. AH is a source of ctDNA in UM eyes, particularly in post-radiation CB eyes. For the first time, UM SCNAs and mutations were identified in AH-derived ctDNA. Suggesting that AH can serve as a liquid biopsy for UM.<\/jats:p>","DOI":"10.3390\/ijms23116226","type":"journal-article","created":{"date-parts":[[2022,6,2]],"date-time":"2022-06-02T04:46:23Z","timestamp":1654145183000},"page":"6226","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":32,"title":["Potential of Aqueous Humor as a Liquid Biopsy for Uveal Melanoma"],"prefix":"10.3390","volume":"23","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7126-4615","authenticated-orcid":false,"given":"Deborah H.","family":"Im","sequence":"first","affiliation":[{"name":"The Vision Center at Children\u2019s Hospital Los Angeles, Los Angeles, CA 90027, USA"},{"name":"USC Roski Eye Institute, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chen-Ching","family":"Peng","sequence":"additional","affiliation":[{"name":"The Vision Center at Children\u2019s Hospital Los Angeles, Los Angeles, CA 90027, USA"},{"name":"USC Roski Eye Institute, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liya","family":"Xu","sequence":"additional","affiliation":[{"name":"The Vision Center at Children\u2019s Hospital Los Angeles, Los Angeles, CA 90027, USA"},{"name":"USC Roski Eye Institute, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7986-6119","authenticated-orcid":false,"given":"Mary E.","family":"Kim","sequence":"additional","affiliation":[{"name":"The Vision Center at Children\u2019s Hospital Los Angeles, Los Angeles, CA 90027, USA"},{"name":"USC Roski Eye Institute, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dejerianne","family":"Ostrow","sequence":"additional","affiliation":[{"name":"Center for Personalized Medicine, Department of Pathology and Laboratory Medicine, Children\u2019s Hospital Los Angeles, Los Angeles, CA 90027, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Venkata","family":"Yellapantula","sequence":"additional","affiliation":[{"name":"Center for Personalized Medicine, Department of Pathology and Laboratory Medicine, Children\u2019s Hospital Los Angeles, Los Angeles, CA 90027, USA"},{"name":"Department of Pathology and Laboratory Medicine, Keck School of Medicine of USC, Los Angeles, CA 90033, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Moiz","family":"Bootwalla","sequence":"additional","affiliation":[{"name":"Center for Personalized Medicine, Department of Pathology and Laboratory Medicine, Children\u2019s Hospital Los Angeles, Los Angeles, CA 90027, USA"},{"name":"Department of Pathology and Laboratory Medicine, Keck School of Medicine of USC, Los Angeles, CA 90033, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaclyn A.","family":"Biegel","sequence":"additional","affiliation":[{"name":"Center for Personalized Medicine, Department of Pathology and Laboratory Medicine, Children\u2019s Hospital Los Angeles, Los Angeles, CA 90027, USA"},{"name":"Department of Pathology and Laboratory Medicine, Keck School of Medicine of USC, Los Angeles, CA 90033, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaowu","family":"Gai","sequence":"additional","affiliation":[{"name":"Center for Personalized Medicine, Department of Pathology and Laboratory Medicine, Children\u2019s Hospital Los Angeles, Los Angeles, CA 90027, USA"},{"name":"Department of Pathology and Laboratory Medicine, Keck School of Medicine of USC, Los Angeles, CA 90033, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rishvanth K.","family":"Prabakar","sequence":"additional","affiliation":[{"name":"Department of Biological Sciences, Dornsife College of Letters, Arts, and Sciences, University of Southern California, Los Angeles, CA 90007, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2629-4505","authenticated-orcid":false,"given":"Peter","family":"Kuhn","sequence":"additional","affiliation":[{"name":"Department of Biological Sciences, Dornsife College of Letters, Arts, and Sciences, University of Southern California, Los Angeles, CA 90007, USA"},{"name":"Norris Comprehensive Cancer Center, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA"},{"name":"Department of Aerospace and Mechanical Engineering, Viterbi School of Engineering, University of Southern California, Los Angeles, CA 90007, USA"},{"name":"Department of Biomedical Engineering, Viterbi School of Engineering, University of Southern California, Los Angeles, CA 90007, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5353-4338","authenticated-orcid":false,"given":"James","family":"Hicks","sequence":"additional","affiliation":[{"name":"Department of Biological Sciences, Dornsife College of Letters, Arts, and Sciences, University of Southern California, Los Angeles, CA 90007, USA"},{"name":"Norris Comprehensive Cancer Center, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA"},{"name":"Department of Biochemistry and Molecular Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8907-9100","authenticated-orcid":false,"given":"Jesse L.","family":"Berry","sequence":"additional","affiliation":[{"name":"The Vision Center at Children\u2019s Hospital Los Angeles, Los Angeles, CA 90027, USA"},{"name":"USC Roski Eye Institute, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA"},{"name":"Norris Comprehensive Cancer Center, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA"},{"name":"The Saban Research Institute, Children\u2019s Hospital Los Angeles, Los Angeles, CA 90027, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,6,2]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1038\/s41572-020-0158-0","article-title":"Uveal melanoma","volume":"6","author":"Jager","year":"2020","journal-title":"Nat. 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