The value of MEIS1 gene methylation assay in the noninvasive diagnosis of bladder cancer in urine

Objective To analyze the value of MEIS1 gene methylation in the early diagnosis of bladder cancer (BCa).Methods From August 2023 to May 2024, BCa patients and non-tumor patients in the Harbin Medical University Cancer Hospital were selected as the modeling cohort. Urine and tissue samples were used to analyze the difference of methylation genes in combination with the data in the Cancer Genome Atlas (TCGA) and the Gene Expression Omnibus (GEO) to determine the specific methylation markers of BCa. BCa patients and non-tumor patients from June 2024 to October 2024 were selected as the validation cohort, and the diagnostic value of MEIS1 was analyzed by comparing with the pathological gold standard.Results A total of 297 subjects were included, including 94 BCa patients and 83 non- tumor patients in the modeling cohort, 90 BCa patients and 30 non-tumor patients in the validation cohort. Analysis of the modeling cohort, TCGA, and GEO data screened out 5 methylation sites, including HOXA9, CRTR, TWIST1, MEIS1, and IFR8. MEIS1 gene was identified as the validation site after further screening conducted based on low methylation background and high degree of differential methylation between adjacent and cancerous tissues (AUC≥0.9). In the validation cohort, the accuracy, sensitivity and specificity of MEIS1 gene methylation in distinguishing BCa patients from normal patients were 89.2%, 91.1% and 83.3%, respectively, and there was no significant difference with the positive detection rate of the gold standard (P>0.05).Conclusion MEIS1 gene methylation in urine has important clinical value in non- invasive urine diagnosis of BCa.