5-Hydroxymethylcytosine profiles in circulating cell-free DNA serve as potential biomarkers for diagnosis and classification of adenomyosis - PubMed

4 hours ago

5-Hydroxymethylcytosine (5hmC) profiles in circulating cell-free DNA (cfDNA) are potential biomarkers for adenomyosis diagnosis and classification.
Current adenomyosis diagnosis relies on MRI or pathological examination, but liquid biopsy is underexplored for this condition.
The study used genome-wide 5hmC profiling from plasma cfDNA (51 adenomyosis, 46 controls) and tissue DNA (26 adenomyosis, 21 controls).
A machine learning model identified 10 5hmC markers, achieving a sensitivity of 0.88 and specificity of 0.87 (AUC = 0.91) in validation.
5hmC signatures could differentiate intrinsic from extrinsic adenomyosis subtypes.
Amyloid precursor protein (APP) was functionally linked to epithelial cell migration and fibrosis, suggesting its role in adenomyosis pathophysiology.
The findings suggest plasma cfDNA 5hmC markers could aid adenomyosis diagnosis and molecular classification, with APP-HOXD9 as a potential therapeutic target.
Funding was provided by the National Natural Science Foundation of China and other Chinese research programs.

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