Impact of Tissue Sampling Strategy on the Diagnostic Accuracy of DNA Methylation Profiling in Central…

Cohort studyPathology international· Aug 2026

Impact of Tissue Sampling Strategy on the Diagnostic Accuracy of DNA Methylation Profiling in Central Nervous System Tumors.

Jyotsna Singh, Shabnam Mansoori, Bharathi Prabakaran N S … Vaishali Suri

NeuropathologyCohort studyQ1IF 1.4

Blind fresh-frozen sampling led to far more unclassifiable methylation results than histology-guided sampling.

Impact of Tissue Sampling Strategy on the Diagnostic Accuracy of DNA Methylation Profiling in Central Nervous System Tumors.

Jyotsna Singh … Vaishali Suri

Pathology international · Aug 2026 · Q1 in Pathology

Background

DNA methylation-based classification is a key adjunct to histopathology in CNS tumor diagnostics.

Methods

We analyzed 179 CNS specimens (162 tumors and 17 controls), including 42 FFPE and 137 fresh-frozen samples with ≥ 50% tumor cellularity.

n = 17 controls

Results

blind sampling left about 1 in 5 methylation results unclassifiable

2%

FFPE

22%

Blind sampling

More results

Although both fresh-frozen and FFPE tissues are used, the impact of sampling strategy on classifier performance remains insufficiently characterized.

Fresh-frozen cases were stratified into histology-validated and blind sampling groups.

FFPE samples showed high diagnostic yield with minimal unclassified results (2%).

More results

Methylation profiling confirmed or refined diagnoses in most cases and led to clinically relevant reclassification in a subset.

“

Conclusion

Classifier performance appeared to be influenced more by sampling strategy rather than preservation method, with histology-guided sampling associated with the most reliable diagnostic outcomes.

Impact of Tissue Sampling Strategy on the Diagnostic Accuracy of DNA Methylation Profiling in Central Nervous System Tumors.

Impact of Tissue Sampling Strategy on the Diagnostic Accuracy of DNA Methylation Profiling in Central Nervous System Tumors.

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