{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,26]],"date-time":"2026-05-26T12:02:18Z","timestamp":1779796938326,"version":"3.53.1"},"reference-count":27,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,5,26]],"date-time":"2026-05-26T00:00:00Z","timestamp":1779753600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Oncol."],"abstract":"<jats:sec>\n                    <jats:title>Introduction<\/jats:title>\n                    <jats:p>\n                      Retinoblastoma is divided into two clinical types, sporadic and heritable, and is the most common primary intraocular malignancy in infancy and childhood. It was the first malignancy to demonstrate the genetic etiology of cancer, with the\n                      <jats:italic>RB1<\/jats:italic>\n                      gene as the only pathological gene present in heritable cases. Although the\n                      <jats:italic>RB1<\/jats:italic>\n                      mutation p.E125* had been previously reported in other retinoblastoma patients, it lacked functional analysis.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      In this study, we identified the\n                      <jats:italic>RB1<\/jats:italic>\n                      p.E125* mutation in a bilateral retinoblastoma patient from China. We investigated the distribution, cell localization, and function of this mutation using molecular biology and structural analysis following the transfection of cells with plasmids encoding the mutant\n                      <jats:italic>RB1<\/jats:italic>\n                      gene.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Functional analyses revealed abnormal protein localization, altered cell cycle distribution, and apoptosis in cells transfected with the mutant\n                      <jats:italic>RB1<\/jats:italic>\n                      plasmids.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Discussion<\/jats:title>\n                    <jats:p>\n                      Our findings contribute to a better understanding of\n                      <jats:italic>RB1<\/jats:italic>\n                      mutation hotspots. Furthermore, our results highlight the importance of offering targeted genetic testing and counseling to families with\n                      <jats:italic>RB1<\/jats:italic>\n                      mutations. The identification of the somatic origin of this mutation was vital in ruling out the heritability of this condition in this specific patient.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fonc.2026.1728083","type":"journal-article","created":{"date-parts":[[2026,5,26]],"date-time":"2026-05-26T11:05:32Z","timestamp":1779793532000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["One hotspot RB1 mutation disrupt RB1 function founded in a Chinese patient"],"prefix":"10.3389","volume":"16","author":[{"given":"Yan","family":"Liu","sequence":"first","affiliation":[{"name":"Department of Ophthalmology, Ninth People\u2019s Hospital, Shanghai JiaoTong University School of Medicine","place":["Shanghai, China"]},{"name":"Shanghai Key Laboratory of Orbital Diseases and Ocular Oncology","place":["Shanghai, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kexin","family":"Ren","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Ninth People\u2019s Hospital, Shanghai JiaoTong University School of Medicine","place":["Shanghai, China"]},{"name":"Shanghai Key Laboratory of Orbital Diseases and Ocular Oncology","place":["Shanghai, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fanglin","family":"He","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Ninth People\u2019s Hospital, Shanghai JiaoTong University School of Medicine","place":["Shanghai, China"]},{"name":"Shanghai Key Laboratory of Orbital Diseases and Ocular Oncology","place":["Shanghai, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuan","family":"Deng","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Ninth People\u2019s Hospital, Shanghai JiaoTong University School of 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China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leilei","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Ninth People\u2019s Hospital, Shanghai JiaoTong University School of Medicine","place":["Shanghai, China"]},{"name":"Shanghai Key Laboratory of Orbital Diseases and Ocular Oncology","place":["Shanghai, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2026,5,26]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/85.14.1121","article-title":"Mortality from second tumors among long-term survivors of retinoblastoma","volume":"85","author":"Eng","year":"1993","journal-title":"J Natl Cancer Institute"},{"key":"B2","doi-asserted-by":"publisher","DOI":"10.1016\/j.pcl.2014.09.014","article-title":"Retinoblastoma","volume":"62","author":"Rodriguez-Galindo","year":"2015","journal-title":"Pediatr Clinics North 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