Retinoblastoma in Asia

Jain, Mukesh; Rojanaporn, Duangnate; Chawla, Bhavna; Sundar, Gangadhar; Gopal, Lingam; Khetan, Vikas

doi:10.1038/s41433-018-0244-7

Cited by 76 publications

(71 citation statements)

References 48 publications

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“…e incidence of RB is similar worldwide at 1 in 15000-20000 live births, which corresponds to approximately 9000 new cases every year [1,2]. Based on the 2013 population estimates, 43% of the individuals with RB live in Asia, and the prevalence in China was only second to that in India [3]. As modern medicine techniques have advanced, the survival rate is higher than 95%, especially in Europe and America [4][5][6], and the long-term complications in the treatment of RB and the well-being of RB survivors have received increasingly more attention [7,8].…”

Section: Introductionmentioning

confidence: 99%

Quality of Life (QoL) and Psychosocial Outcomes in Adult Survivors of Unilateral Retinoblastoma (RB) in China

Feng

Zhou

Jia

et al. 2020

Journal of Ophthalmology

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Purpose. To assess the quality of life (QoL) and the long-term psychosocial outcomes in adult survivors of unilateral retinoblastoma (RB). Methods. This is a cross-sectional study. Enrolment was offered to all adult survivors of unilateral RB who were treated by enucleation and were followed up in the Ninth People’s Hospital of Shanghai Jiao Tong University School of Medicine; noncancer healthy adults served as a control group. All participants completed a series of questionnaires consisting of two aspects, QoL and psychosocial status. The psychosocial outcomes included anxiety, depression, fear of cancer, and satisfaction with facial appearance. Results. A total of 66 RB survivors (43.0% male) and 66 healthy adults (33.3% male) were aged 27.94 ± 7.63 and 29.18 ± 8.37 at the time of the study, respectively. Adult RB survivors did not have significantly higher rates of depression and anxiety compared with the control group, and they experienced a relatively good QoL. RB survivors were more likely to worry about their facial appearance (median, 1.59 [inter-quartile range, IQR, 1.27 to 2.16] v median, 0.36 [IQR, 0.09 to 1.18]; p<0.001). Radiotherapy was not the factor affecting satisfaction with facial appearance (β, −0.27 [confidence interval, CI, −0.69 to 0.16]; p=0.214). Females were more likely to be influenced by the disease (mean, 29.59 ± 8.89 v mean, 24.37 ± 6.92; p=0.031) and worry about their appearance (mean, 1.88 ± 0.84 v mean, 1.46 ± 0.77; p=0.041). Conclusions. Unilateral RB survivors are a fairly healthy and resilient group. Most unilateral RB survivors experience a relatively good QoL, and they do not have poorer psychosocial functioning compared with a noncancer sample. Females may need more specific psychosocial care.

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Section: Introductionmentioning

confidence: 99%

Quality of Life (QoL) and Psychosocial Outcomes in Adult Survivors of Unilateral Retinoblastoma (RB) in China

Feng

Zhou

Jia

et al. 2020

Journal of Ophthalmology

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“…The incidence of retinoblastoma is approximately 1/15-20000 live births [19,20]. While no gender or ethnic disparities have been identified, a disproportionately greater number of cases are observed in populations with high birthrates [20,21]. Outcomes of retinoblastoma treatment also vary with geographical location.…”

Section: Retinoblastomamentioning

confidence: 99%

Next-Generation Technologies and Strategies for the Management of Retinoblastoma

Gudiseva

Berry

Tummina

et al. 2019

Genes

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Retinoblastoma (RB) is an inherited retinal disorder (IRD) caused by the mutation in the RB1 gene or, rarely, by alterations in the MYCN gene. In recent years, new treatment advances have increased ocular and visual preservation in the developed world. The management of RB has improved significantly in recent decades, from the use of external beam radiation to recently, more localized treatments. Determining the underlying genetic cause of RB is critical for timely management decisions. The advent of next-generation sequencing technologies have assisted in understanding the molecular pathology of RB. Liquid biopsy of the aqueous humor has also had significant potential implications for tumor management. Currently, patients' genotypic information, along with RB phenotypic presentation, are considered carefully when making treatment decisions aimed at globe preservation. Advances in molecular testing that improve our understanding of the molecular pathology of RB, together with multiple directed treatment options, are critical for developing precision medicine strategies to treat this disease. Author Contributions: Conceptualization, J.L.B., S.J.T. and J.M.O.; investigation, H.V.G., J.L.B., A.P.; Data curation H.V.G., J.L.B., A.P.; writing-original draft preparation H.V.G., J.L.B.; writing-review and editing A.P., J.L.B., S.J.T. and J.M.O.; Visualization J.L.B. and J.M.O.; supervision, J.M.O.; funding acquisition, J.L.B. and J.M.O.

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“…Additional chemotherapy before or after enucleation is necessary to prevent cases of hematogenous spreading or involvement of the central nervous system [5,7]. Recurrence and metastasis of high-risk advanced RB is still a major obstacle for successful therapy in China [5,8].…”

Section: Introductionmentioning

confidence: 99%

Different transcriptome profiles between human retinoblastoma Y79 cells and an etoposide-resistant subline reveal a chemoresistance mechanism

et al. 2020

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Background: Retinoblastoma (RB) is the most frequent pediatric retinal tumor. In the present study, to elucidate chemoresistance mechanisms and identify potential biomarkers in RB, we utilized RNA sequencing (RNAseq) technological platforms to reveal transcriptome profiles and identify any differentially expressed genes (DEGs) between an etoposide drugresistant subline (Y79/EDR) and parental Y79 cells. Methods: To test whether Y79/EDR cells showed resistance to antineoplastic agents for RB, we treated the cells with etoposide, carboplatin and vincristine and analyzed them with a Cell Counting Kit-8 (CCK-8). Y79/EDR and parental Y79 cells were used for RNAseq and bioinformatics analysis to enable a genome-wide review of DEGs between the two lines using the DESeq R package (1.10.1). Then, DEG enrichment in Kyoto Encyclopedia of Genes and Genomes (KEGG) pathways was analyzed with KOBAS software. Next, real-time quantitative reverse transcription polymerase chain reaction (real time QRT-PCR) and cytotoxicity assays were performed to experimentally and functionally validate the identified candidate biomarkers. Results: Y79/EDR cells showed resistance to etoposide, carboplatin and vincristine at different concentrations. In total, 524 transcripts were differentially expressed in Y79/EDR cells based on analysis of fragments per kilobase of transcript per million fragments mapped (FPKM); among these, 57 genes were downregulated and 467 genes were upregulated in Y79/EDR cells compared to parental Y79 cells. We selected candidate DEGs, including ARHGAP9, HIST1H4H, RELN, DDIT4, HK2, STC1 and PFKFB4, for mRNA expression validation with real time QRT-PCR assays and found that the expression levels determined by real time QRT-PCR were consistent with the RNAseq data. Further studies involving downregulation of ARHGAP9 with a specific siRNA showed that ARHGAP9 altered the cellular sensitivity of Y79 cells to etoposide and carboplatin.

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Retinoblastoma in Asia

Cited by 76 publications

References 48 publications

Quality of Life (QoL) and Psychosocial Outcomes in Adult Survivors of Unilateral Retinoblastoma (RB) in China

Quality of Life (QoL) and Psychosocial Outcomes in Adult Survivors of Unilateral Retinoblastoma (RB) in China

Next-Generation Technologies and Strategies for the Management of Retinoblastoma

Different transcriptome profiles between human retinoblastoma Y79 cells and an etoposide-resistant subline reveal a chemoresistance mechanism

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