Clinical Features and Survival of Chinese Children With Trilateral Retinoblastoma During 2006-2019: A Retrospective Multicenter Study

Fang, Xiaolian; Wang, Yizhuo; Yin, Jie; Guo, Yongli; Jia, Lulu; Zhang, Chengyue; Jin, Mei; Ni, Xin; Zhao, Junyang

doi:10.1016/j.ajo.2020.10.002

Cited by 6 publications

(8 citation statements)

References 25 publications

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“…In addition, several studies were identified in which the range in age of familial cases was reported, but it was unclear whether patients were adequately screened from birth. Ultimately, 17 studies with eligible patients were identified and included in this systematic review [4,5,[8][9][10][11][12][13][14][15][16][17][18][19][20][21][22].…”

Section: Included Studies and Patientsmentioning

confidence: 99%

“…Within the 14 studies (n = 88) where a patient's age was individually reported [8,[10][11][12][13][14][15][16][17][18][19][20][21][22]] the combined median age at diagnosis was 2.0 months of age (95% CI: 1.3-3.0 months). When also including one other study where the mean age was reported in the text [4], based on these 15 studies (n = 138), the combined mean age at diagnosis was 3.6 months of age (95% CI: 3.1-4.2 months).…”

Section: Age At Diagnosismentioning

confidence: 99%

“…One of the included studies from Abramson and colleagues reports that most of the patients fundus examinations were performed at birth or shortly thereafter, with follow-up every six weeks [9]. Most included case series report intentional fundus screening from birth in atrisk cases, but describe no further screening practice due to early retinoblastoma diagnosis within the first months after birth [8,16,18,[20][21][22], while in one case fundus evaluation and diagnosis of retinoblastoma was within the first month while not mentioning screening [17] and in another case report a child was diagnosed at 28 months after periodic monthly examination under general anesthesia until 2 years of age [19].…”

Section: Screening For Familial Retinoblastomamentioning

confidence: 99%

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At What Age Could Screening for Familial Retinoblastoma Be Discontinued? A Systematic Review

Wijsard

Serné

Otten

et al. 2021

Cancers

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The aim of this systematic review is to assess the latest age at diagnosis for detection of familial retinoblastoma in order to evaluate at what age screening of at-risk children could be discontinued. Extended screening beyond this age would result in unnecessary patient burden and costs. However, discontinuing screening prematurely would have the adverse effect of missing tumors. We performed a literature search (PubMed, Embase, CINAHL and the Cochrane Library) up until February of 2021 and systematically included studies where patients had a family history of retinoblastoma, a known age at diagnosis, and who were ophthalmologically screened for retinoblastoma from birth. A total of 176 familial retinoblastoma patients from 17 studies were included in this review. Based on 48 months of age being the latest age of diagnosis, ophthalmological screening for familial retinoblastoma could safely be discontinued at age four years.

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Section: Included Studies and Patientsmentioning

confidence: 99%

Section: Age At Diagnosismentioning

confidence: 99%

Section: Screening For Familial Retinoblastomamentioning

confidence: 99%

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At What Age Could Screening for Familial Retinoblastoma Be Discontinued? A Systematic Review

Wijsard

Serné

Otten

et al. 2021

Cancers

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“…впервые описали пациентов детского возраста с двусторонней ретинобластомой и морфологически схожей опухолью в области шишковидной железы -трилатеральная (трехсторонняя) ретинобластома [25]. Трехсторонняя форма характерна при наследственном типе ретинобластомы и обычно поражает второе или третье поколение [26]. Частота встречаемости трехсторонней ретинобластомы составляет 3,2% от всех пациентов с наследственной ретинобластомой (двусторонними и односторонними опухолями пациентов с Роль генетических нарушений гена RB1 в патогенезе ретинобластомы К содержанию   семейным анамнезом или с патогенным герминальным генетическим нарушением в гене RB1) и 2,9% среди пациентов с двусторонней ретинобластомой [27].…”

Section: клинические особенности ретинобластомыunclassified

Роль Генетических Нарушений Гена RB1 В Патогенезе Ретинобластомы

Гурьянова¹,

Makarevich²,

Литвинова³

et al. 2021

Евразийский Онкологический Журнал

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Введение. Ретинобластома - это злокачественная внутриглазная нейроэктодермальная опухоль (внутренней оболочки глаза), чаще поражающая детей в возрасте от 0 до 9 лет. 90% случаев диагностируются в возрасте до 5 лет, из них две трети - в возрасте до 2 лет. Ретинобластома представлена двумя различными клиническими формами: наследственной формой (40% случаев), при которой опухоли двусторонние и мультифокальные, проявляющиеся вболее раннем возрасте; и ненаследственной формой (60% случаев), при которой опухоли односторонние и унифокальные, проявляющиеся в более позднем возрасте. Этиология формирования ретинобластомы обусловлена возникновением мутаций в онкосупрессорном гене RB1. Ген RB1 кодирует ядерный фосфопротеин pRb, который играет важную роль в регуляции клеточного цикла. Целью написания данной статьи было повышение осведомленности о клинической картине ретинобластомы и обоснование важности внедрения молекулярно-генетического исследования гена RB1 в диагностический процесс. Заключение. Своевременная клиническая диагностика позволяет раньше начать лечение, снизить риск развития тяжелого течения заболевания и сохранить глазное яблоко и зрительные функции пациентов с ретинобластомой. Молекулярная диагностика генетических нарушений гена RB1 помогает дифференцировать врожденную и соматическую формы ретинобластомы, дает возможность пациентам и их кровным родственникам принимать информированные решения в области планирования семьи, проводить прогностическую оценку в семьях с низкой пенетрантностью. Introduction. Retinoblastoma is a malignant intraocular neuroectodermal tumor (inner lining of the eye) that most commonly affects children aged from 0 to 9 years. Two-thirds of cases are diagnosed before the age of 2 years, and 90% of cases are diagnosed before the age of 5 years. Retinoblastoma presents in two distinct clinical forms: a heritable form (40% of cases), in which tumors are bilateral and multifocal, presenting at an earlier age; a non-heritable form (60% of cases), in which tumors are unilateral and unifocal, presenting at a later age. The etiology of retinoblastoma formation is caused by the occurrence of mutations in the tumor suppressor gene (RB1). The RB1 gene encodes a nuclear phosphoprotein (pRB) that is found in a mutated form in a wide range of human tumors. Purpose. To raise awareness of the clinical picture of retinoblastoma and demonstrate the importance of including molecular genetic analysis into the diagnostic process. Conclusion. Timely clinical diagnostics lets to conduct early treatment, reduces the risk of development of severe course of disease, and improves eyeball condition in patients with retinoblastoma. Genetic diagnostics helps to distinguish hereditary and somatic forms of retinoblastoma, enables patients and their relatives to make informed reproductive choices regarding subsequent pregnancies and to conduct prognostic assessment in families with low penetrance.

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“… 3 The early detection and effective therapeutic strategies are critical for improving the survival rates. 4 As is known, the biallelic mutation and inactivation located in the chromosome 13q14 tumor suppressor gene Rb1 lead to the occurrence of hereditary RB; approximately 1% of RB (usually unilateral) is caused by somatic MYCN amplification, rather than the loss of RB1 function. 5 , 6 However, with further research, diverse genomic alterations and epigenetic modifications like microRNAs, DNA methylation, and lncRNAs are also involved in tumorigenesis, many of which mechanisms are still unclear.…”

Section: Introductionmentioning

confidence: 99%

Four Autophagy-Related Long Noncoding RNAs Provide Coexpression and ceRNA Mechanisms in Retinoblastoma through Bioinformatics and Experimental Evidence

Ren

Guo

et al. 2021

ACS Omega

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Retinoblastoma (RB) is the most common type of intraocular malignant tumor that lowers the quality of life among children worldwide. Long noncoding RNAs (lncRNAs) are reported to play a dual role in tumorigenesis and development of RB. Autophagy is also reported to be involved in RB occurrence. Although several studies of autophagy-related lncRNAs in RB have been explored before, there are still unknown potential mechanisms in RB. In the present study, we mined dataset GSE110811 from the Gene Expression Omnibus database and downloaded autophagy-related genes from the Human Autophagy Database for further bioinformatic analysis. By implementing the differential expression analysis and Pearson correlation analysis on the lncRNA expression matrix and autophagy-related genes expression matrix, we identified four autophagy-related lncRNAs (namely, N4BP2L2-IT2, SH3BP5-AS1, CDKN2B-AS1, and LINC-PINT) associated with RB. We then performed differential expression analysis on microRNA (miRNA) from dataset GSE39105 for further analyses of lncRNA–miRNA–mRNA regulatory mechanisms. With the miRNA–lncRNA module on the StarBase 3.0 website, we predicted the differentially expressed miRNAs that could target the autophagy-related lncRNAs and constructed a potential lncRNA–miRNA–mRNA regulatory network. Furthermore, the functional annotations of these target genes in regulatory networks were presented using the Cytoscape and the Metascape annotation tool. Finally, the expression pattern of the four autophagy-related lncRNAs was evaluated via qRT-PCR. In conclusion, our findings suggest that the four autophagy-related lncRNAs could be critical molecules associated with the development of RB and affect the occurrence and development of RB through the lncRNA–miRNA–mRNA regulatory network. Genes (GRP13B, IFT88, EPHA3, GABARAPL1, and EIF4EBP1) may serve as potential novel therapeutic targets and biomarkers in RB.

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Clinical Features and Survival of Chinese Children With Trilateral Retinoblastoma During 2006-2019: A Retrospective Multicenter Study

Cited by 6 publications

References 25 publications

At What Age Could Screening for Familial Retinoblastoma Be Discontinued? A Systematic Review

At What Age Could Screening for Familial Retinoblastoma Be Discontinued? A Systematic Review

Роль Генетических Нарушений Гена RB1 В Патогенезе Ретинобластомы

Four Autophagy-Related Long Noncoding RNAs Provide Coexpression and ceRNA Mechanisms in Retinoblastoma through Bioinformatics and Experimental Evidence

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