Linbin Zhou , Yan Tong , Bo Man Ho , Jiahui Li , Hoi Ying Emily Chan , Tian Zhang , Lin Du , Jing Na He , Li Jia Chen , Clement C. Tham , Jason C. Yam , Chi Pui Pang , Wai Kit Chu
{"title":"视网膜母细胞瘤的病因,包括表观遗传缺陷。","authors":"Linbin Zhou , Yan Tong , Bo Man Ho , Jiahui Li , Hoi Ying Emily Chan , Tian Zhang , Lin Du , Jing Na He , Li Jia Chen , Clement C. Tham , Jason C. Yam , Chi Pui Pang , Wai Kit Chu","doi":"10.1016/j.apjo.2024.100072","DOIUrl":null,"url":null,"abstract":"<div><p>Retinoblastoma (RB), originating from the developing retina, is an aggressive intraocular malignant neoplasm in childhood. Biallelic loss of <em>RB1</em> is conventionally considered a prerequisite for initiating RB development in most RB cases. Additional genetic mutations arising from genome instability following <em>RB1</em> mutations are proposed to be required to promote RB development. Recent advancements in high throughput sequencing technologies allow a deeper and more comprehensive understanding of the etiology of RB that additional genetic alterations following <em>RB1</em> biallelic loss are rare, yet epigenetic changes driven by <em>RB1</em> loss emerge as a critical contributor promoting RB tumorigenesis. Multiple epigenetic regulators have been found to be dysregulated and to contribute to RB development, including noncoding RNAs, DNA methylations, RNA modifications, chromatin conformations, and histone modifications. A full understanding of the roles of genetic and epigenetic alterations in RB formation is crucial in facilitating the translation of these findings into effective treatment strategies for RB. In this review, we summarize current knowledge concerning genetic defects and epigenetic dysregulations in RB, aiming to help understand their links and roles in RB tumorigenesis.</p></div>","PeriodicalId":8594,"journal":{"name":"Asia-Pacific Journal of Ophthalmology","volume":null,"pages":null},"PeriodicalIF":3.7000,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2162098924000732/pdfft?md5=b4dfc704764d10f5c83d4504fe742792&pid=1-s2.0-S2162098924000732-main.pdf","citationCount":"0","resultStr":"{\"title\":\"Etiology including epigenetic defects of retinoblastoma\",\"authors\":\"Linbin Zhou , Yan Tong , Bo Man Ho , Jiahui Li , Hoi Ying Emily Chan , Tian Zhang , Lin Du , Jing Na He , Li Jia Chen , Clement C. Tham , Jason C. Yam , Chi Pui Pang , Wai Kit Chu\",\"doi\":\"10.1016/j.apjo.2024.100072\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><p>Retinoblastoma (RB), originating from the developing retina, is an aggressive intraocular malignant neoplasm in childhood. Biallelic loss of <em>RB1</em> is conventionally considered a prerequisite for initiating RB development in most RB cases. Additional genetic mutations arising from genome instability following <em>RB1</em> mutations are proposed to be required to promote RB development. Recent advancements in high throughput sequencing technologies allow a deeper and more comprehensive understanding of the etiology of RB that additional genetic alterations following <em>RB1</em> biallelic loss are rare, yet epigenetic changes driven by <em>RB1</em> loss emerge as a critical contributor promoting RB tumorigenesis. Multiple epigenetic regulators have been found to be dysregulated and to contribute to RB development, including noncoding RNAs, DNA methylations, RNA modifications, chromatin conformations, and histone modifications. A full understanding of the roles of genetic and epigenetic alterations in RB formation is crucial in facilitating the translation of these findings into effective treatment strategies for RB. In this review, we summarize current knowledge concerning genetic defects and epigenetic dysregulations in RB, aiming to help understand their links and roles in RB tumorigenesis.</p></div>\",\"PeriodicalId\":8594,\"journal\":{\"name\":\"Asia-Pacific Journal of Ophthalmology\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":3.7000,\"publicationDate\":\"2024-05-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.sciencedirect.com/science/article/pii/S2162098924000732/pdfft?md5=b4dfc704764d10f5c83d4504fe742792&pid=1-s2.0-S2162098924000732-main.pdf\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Asia-Pacific Journal of Ophthalmology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S2162098924000732\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"OPHTHALMOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Asia-Pacific Journal of Ophthalmology","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S2162098924000732","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"OPHTHALMOLOGY","Score":null,"Total":0}
Etiology including epigenetic defects of retinoblastoma
Retinoblastoma (RB), originating from the developing retina, is an aggressive intraocular malignant neoplasm in childhood. Biallelic loss of RB1 is conventionally considered a prerequisite for initiating RB development in most RB cases. Additional genetic mutations arising from genome instability following RB1 mutations are proposed to be required to promote RB development. Recent advancements in high throughput sequencing technologies allow a deeper and more comprehensive understanding of the etiology of RB that additional genetic alterations following RB1 biallelic loss are rare, yet epigenetic changes driven by RB1 loss emerge as a critical contributor promoting RB tumorigenesis. Multiple epigenetic regulators have been found to be dysregulated and to contribute to RB development, including noncoding RNAs, DNA methylations, RNA modifications, chromatin conformations, and histone modifications. A full understanding of the roles of genetic and epigenetic alterations in RB formation is crucial in facilitating the translation of these findings into effective treatment strategies for RB. In this review, we summarize current knowledge concerning genetic defects and epigenetic dysregulations in RB, aiming to help understand their links and roles in RB tumorigenesis.
期刊介绍:
The Asia-Pacific Journal of Ophthalmology, a bimonthly, peer-reviewed online scientific publication, is an official publication of the Asia-Pacific Academy of Ophthalmology (APAO), a supranational organization which is committed to research, training, learning, publication and knowledge and skill transfers in ophthalmology and visual sciences. The Asia-Pacific Journal of Ophthalmology welcomes review articles on currently hot topics, original, previously unpublished manuscripts describing clinical investigations, clinical observations and clinically relevant laboratory investigations, as well as .perspectives containing personal viewpoints on topics with broad interests. Editorials are published by invitation only. Case reports are generally not considered. The Asia-Pacific Journal of Ophthalmology covers 16 subspecialties and is freely circulated among individual members of the APAO’s member societies, which amounts to a potential readership of over 50,000.