The promising role of PAX1 (aliases: HUP48, OFC2) gene methylation in cancer screening

Abstract

Background Paired‐box gene 1 ( PAX1 ), a member of the PAX family, plays a role in pattern formation during embryogenesis, and might be essential for development of the vertebral column. Methods PAX1 is silenced by methylation in several cancers and is considered a tumor suppressor gene. Our previous studies reported PAX1 as hypermethylated in cervical cancer tissues, thereby suggesting it as a potential screening marker. Recently, an increasing number of studies have confirmed PAX1 methylation as a promising biomarker in cervical cancer based on its excellent discriminatory ability between high‐grade cervical lesions and normal tissues, resulting in a reduced necessity for referral for colposcopy and biopsy. Additionally, PAX1 is also hypermethylated in other tumors, including those associated with epithelial ovarian cancer, esophageal squamous cell carcinoma, head and neck squamous cell carcinoma, and endometrial carcinoma, and shows relatively good sensitivity and specificity for the detection of these tumors. Results This review summarizes reports of PAX1 methylation and its promising role in cancer screening, especially that associated with cervical cancer. Conclusion According to current evidence, combined testing for human papillomavirus and PAX1 methylation analysis represents an efficacious cervical cancer‐screening protocol.

Endometrial Cancer Detection by DNA Methylation Analysis in Cervical Papanicolaou Brush Samples

“…In previous studies and our work, 14 – 20 hypermethylation of RASSF1A, HIST1H4F, Septin 9, and PAX1 has been found in tissue samples from patients with EC and other malignancies including colorectal cancer, and cervical cancer. However, the feasibility of DNA methylation testing in cervical Pap brush samples and its value for EC detection remains largely undetermined.…”

DNA Methylation and Hydroxymethylation in Cervical Cancer: Diagnosis, Prognosis and Treatment

“…Mersakova et al (2018) and Rong et al (2019) have recently shown that CADM1 is a potential biomarker for cervical cancer. There was a significant difference in the promoter Kan et al, 2014;Lai et al, 2014;Kong et al, 2015;Nikolaidis et al, 2015;Xu et al, 2015Xu et al, , 2018Chen et al, 2016;Liou et al, 2016;Huang et al, 2017;Fang et al, Lee et al, 2006;Yeon et al, 2018 methylation of plasma CADM1 and its D-dimer between healthy individuals and those with cervical cancer. Combining these factors to predict metastasis revealed high specificity (90.5%) and sensitivity (80.4%) (Rong et al, 2019).…”

“…Hypermethylated PAX1 is important in cancer progression (Huang et al, 2017) that functions in regulating cellular differentiation and proliferation (Fang et al, 2019). PAX1 can be used to detect cervical squamous cell carcinoma (CSCC) in 121 patients from eastern China with 80.9, 83.7, and 79.0% accuracy, specificity, and sensitivity, respectively (Xu et al, 2018).…”

The role of PAX1 methylation in predicting the pathological upgrade of cervical intraepithelial neoplasia before cold knife conization

“…It has been reported that the disruption between kinases and phosphatases caused by PAX1 methylation is involved in cervical carcinogenesis ( 33 ). An increasing number of studies have confirmed PAX1 methylation as a promising biomarker for cervical cancer based on its ability to discriminate between high‐grade cervical lesions and normal tissues, resulting in a reduced necessity for colposcopy referral and biopsy ( 9 , 10 , 34 ). The current study demonstrated that the ΔCp PAX1 level of CIN3 determined by CDB was lower than that of CIN2 and the ΔCp PAX1 level of ESCC was lower than that of both CIN2 and CIN3.…”