{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,13]],"date-time":"2026-01-13T07:15:31Z","timestamp":1768288531139,"version":"3.49.0"},"reference-count":25,"publisher":"Intelligent Science Group Inc","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["SciBnk"],"abstract":"<jats:p>Objective: Patients with retinoblastoma (RB) require serial examinations under anesthesia (EUA) to assess for response to treatment and disease recurrence. Monitoring for disease recurrence is complicated in patients with loss of fundoscopic view, such as with vitreous hemorrhage (VH) or cataract. Herein, we report a case of a 13-month-old male diagnosed with sporadic bilateral retinoblastoma, wherein the aqueous humor liquid biopsy was used to detect an occult tumor recurrence after 3.5 years of disease stability.\nMethodology: Case report.\nResults: A 13-month-old male diagnosed with sporadic bilateral retinoblastoma, International Intraocular Retinoblastoma Classification (IIRC) Group D1 in the right eye and Group E in the left eye, was initially treated with intravenous chemotherapy, intravitreal chemotherapy, and local consolidation. After 3.5 years of disease stability, the patient developed a massive vitreous hemorrhage in the left eye, which precluded a view of the posterior segment. EUA, B-scan ultrasonography, and magnetic resonance imaging (MRI) of the brain and bilateral orbits were inconclusive for recurrence. Aqueous humor liquid biopsy, LBSeq4Kids, is an analytically validated College of American Pathologists \/Clinical Laboratory Improvement Amendments (CAP\/CLIA) laboratory test available for clinical use at Children\u2019s Hospital Los Angeles. Low pass whole-genome sequencing of aqueous humor cell-free DNA (cfDNA) demonstrated the presence of circulating tumor DNA consistent with an active intraocular recurrence. Enucleation of the left eye was performed and the histopathology confirmed active RB recurrence with massive choroidal invasion.\nConclusions: Aqueous humor liquid biopsy can be used to guide clinical decision-making in RB, especially when there is a loss of fundus view and intraocular recurrence is suspected.<\/jats:p>","DOI":"10.61340\/uahctirbr","type":"journal-article","created":{"date-parts":[[2025,6,3]],"date-time":"2025-06-03T13:43:07Z","timestamp":1748958187000},"source":"Crossref","is-referenced-by-count":1,"title":["The use of aqueous humor cfDNA for low-pass whole genome sequencing as a clinical test to identify intraocular retinoblastoma recurrence"],"prefix":"10.61340","author":[{"ORCID":"https:\/\/orcid.org\/0009-0006-9317-1862","authenticated-orcid":false,"given":"Douglas","family":"Chigane","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Drishti","family":"Pandya","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0852-1981","authenticated-orcid":false,"given":"Brianne","family":"Brown","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michelle","family":"Lin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-7477-351X","authenticated-orcid":false,"given":"Alexander","family":"Tseng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rachana","family":"Shah","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2169-7826","authenticated-orcid":false,"given":"Rima","family":"Jubran","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matthew","family":"Snider","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrick","family":"Peng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Muskaan","family":"Singh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1592-7741","authenticated-orcid":false,"given":"Venkata","family":"Yellapantula","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9270-6411","authenticated-orcid":false,"given":"Jaclyn A.","family":"Biegel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5501-2039","authenticated-orcid":false,"given":"Liya","family":"Xu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8907-9100","authenticated-orcid":false,"given":"Jesse","family":"Berry","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"40084","published-online":{"date-parts":[[2025,6,3]]},"reference":[{"key":"ref0","doi-asserted-by":"publisher","unstructured":"1. 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DOI: 10.1016\/j.ajo.2023.11.020","DOI":"10.1016\/j.ajo.2023.11.020"}],"container-title":["ScienceBank"],"original-title":[],"link":[{"URL":"https:\/\/sciencebank.com\/publication\/the-use-of-aqueous-humor-cfDNA-for-low-pass-whole-genome-sequencing-as-a-clinical-test\/index.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,6,3]],"date-time":"2025-06-03T15:18:28Z","timestamp":1748963908000},"score":1,"resource":{"primary":{"URL":"https:\/\/sciencebank.com\/publication\/the-use-of-aqueous-humor-cfDNA-for-low-pass-whole-genome-sequencing-as-a-clinical-test\/index.html"}},"subtitle":[],"editor":[{"given":"Santiago","family":"Delgado Tirado","sequence":"additional","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2025,6,3]]},"references-count":25,"URL":"https:\/\/doi.org\/10.61340\/uahctirbr","relation":{},"subject":[],"published":{"date-parts":[[2025,6,3]]}}}