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New research · Ophthalmology
International journal of ophthalmology · 16h
StudyInternational journal of ophthalmology · 2025

MSH6 gene methylation on clinical pathology and diagnosis in retinoblastoma: a bioinformatics analysis.

Cheng-Fang Zhang, Liang Zhao, Tian-Ming Jian, Yu-Feng Guo
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OphthalmologyStudy

MSH6 gene hypermethylation distinguishes retinoblastoma tissue from normal retina

MSH6 gene methylation on clinical pathology and diagnosis in retinoblastoma: a bioinformatics analysis.

Cheng-Fang Zhang … Yu-Feng Guo
International journal of ophthalmology · 2025
Purpose

To explore the methylation status of MSH6 in retinoblastoma (retinoblastoma) and its impact on clinicopathological features and diagnosis.

Methods

A total of 102 retinoblastoma patients and 62 trauma-enucleated controls between January 2018 and December 2023 were enrolled, with their clinicopathological data and retinal tissues collected.

Results

test for spotting retinoblastoma vs normal retina was highly accurate

78.43%
Sensitivity
80.65%
Specificity
More results

Bioinformatics analysis of public datasets revealed that MSH6 expression was downregulated across multiple cancers, retinoblastoma.

More results

Consistently, in clinical retinoblastoma tissues, MSH6 mRNA expression was significantly lower than that in control retinal tissues, whereas the promoter methylation level of MSH6 was markedly higher (both P <0.001), indicating that promoter hypermethylation may contribute to transcriptional silencing of MSH6 in retinoblastoma.

“
Conclusion

The methylation level of the MSH6 gene may be a key factor in retinoblastoma pathogenesis. The methylation status of the MSH6 gene is closely associated with clinicopathological features and shows diagnostic potential.

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