Post

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
Read paper
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.

Read paper
0 comments

No comments yet. Be the first.

Related papers

LatestFoundational
AI / Informatics
0·962 for OCT
MerMED-FM was very accurate at diagnosing diseases using eye scans
AI / Informatics
0.98
Artificial intelligence's eyelid-height measurements matched doctors' manual measurements almost perfectly
AI / Informatics
92.1%
combining eye scans and photos correctly told benign from cancerous lesions apart nearly every time
Cohort Study
28.6%
recurred locally in more than 1 in 4 patients over years of follow-up
Cohort Study
-0.395
excision group's post-op eyelid fullness score was lower - greater improvement
Cohort Study
86.7%
of infants probed after 12 months still had unresolved tear duct blockage
Observational
16%
eyelid tissue in rosacea patients showed less of this key repair-signaling protein inside cell nuclei
Cohort Study
25%
about 1 in 4 treated cases had symptoms return after improving