DNA methylation analysis of peripheral blood mononuclear cells in diagnosing breast cancer from benign breast lesions

Autor: Ying Zhang, Lei Cheng
Jazyk: angličtina
Rok vydání: 2024
Předmět:
Zdroj: Journal of Translational Medicine, Vol 22, Iss 1, Pp 1-19 (2024)
Druh dokumentu: article
ISSN: 1479-5876
DOI: 10.1186/s12967-024-05842-z
Popis: Abstract Background With the increasing incidence of breast lesions, the differential diagnosis between benign lesions and breast cancer (BCa) has become a big challenge. Host peripheral blood mononuclear cells (PBMCs) could undergo changes in DNA methylation upon disease progression. However, the clinical value of DNA methylation of PBMCs in differentiating benign lesions and BCa is still unclear. Methods DNA of PBMCs was isolated and the methylation status of PBMCs in patients with BCa and benign breast nodules was detected by using Illumina Infinium methylation EPIC array. The specific methylation targets were validated by pyrosequencing, Targeted Bisulfite Sequencing Assay, and Multiplex Methylation PCR Assay(MMPA). Results cg26977936, cg23351954, and cg27209741 were validated as differentially methylated and showed the potential diagnostic values (sensitivity and specificity were 90.0%/53.3%, 43.3%/90.0%, 90.0%/43.3%, respectively). Moreover, a diagnostic model was established using these 3 CGs through logistic regression analysis, and the AUC reached 0.837. Next, this diagnostic model was validated in another, independent cohort with Targeted Bisulfite Sequencing Assay, and the clinical value in distinguishing benign and malignant breast disease was also confirmed (AUC = 0.827, P
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