PAX1 and SOX1 methylation as an initial screening method for cervical cancer: a meta-analysis of individual studies in Asians

Chen, Yan; Cui, Zhaolei; Xiao, Zhenzhou; Hu, Minhua; Jiang, Chuanhui; Lin, Yingying

doi:10.21037/atm.2016.09.30

Cited by 33 publications

(33 citation statements)

References 35 publications

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“…Another study reported PAX1 expression‐inducing tumor formation following subcutaneous injection of cultured cells expressing PAX1 into nude mice (Maulbecker & Gruss, ). Additionally, other studies showed that methylation of CpG islands in the PAX1 promoter region regulates cervical neoplasia (Chen et al, ; Kan et al, ), resulting in their characterization of PAX1 as a tumor suppressor gene. Although PAX1 functions have been hypothesized based on phenotypic outcomes associated with knockout models, PAX1 molecular functions and target genes remain largely unknown.…”

Section: Potential Mechanisms Of Pax1 Methylationmentioning

confidence: 99%

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

Fang

Wang

Liou

et al. 2019

Molec Gen & Gen Med

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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.

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Section: Potential Mechanisms Of Pax1 Methylationmentioning

confidence: 99%

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

Fang

Wang

Liou

et al. 2019

Molec Gen & Gen Med

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“…13 The genes SOX1 and PAX1 have been reported as potential methylation biomarkers and studies have demonstrated their promise in the detection of cervical intraepithelial neoplasms (CIN) grade 3 and worse lesions (CIN3+). [15][16][17][18] However, the published data were highly heterogeneous. No methylation markers can yet be utilized in cervical cancer screening or triage settings.…”

Section: Introductionmentioning

confidence: 99%

<p>A Sensitive and Simplified Classifier of Cervical Lesions Based on a Methylation-Specific PCR Assay: A Chinese Cohort Study</p>

Zhang¹,

Yu²,

Huang³

et al. 2020

CMAR

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These authors contributed equally to this workObjective: The aim of this study is to assess the diagnostic and screening performance of a standardized methylation-specific real-time PCR assay targeting SOX1 and PAX1 genes for cervical cancer in a Chinese cohort. Methods: Genomic DNA was extracted from cervical exfoliated cells and converted by sodium bisulfite and then analyzed by qMSP assay. Ct values were collected for PAX1 and SOX1 as target genes and β-actin as an endogenous reference gene. The samples included 295 cervicitis, 111 LSIL (low-grade squamous intraepithelial lesion), 51 HSIL (high-grade squamous intraepithelial lesion) and 30 cervical cancer. Results: The Ct values decreased with the progression of cervical cancer from cervicitis, through LSIL and HSIL to cancer. The difference in Ct values between cytological grades was highly significant (p≤0.01) between grades either for PAX1 or for SOX1 except the difference between cervicitis and LSIL of SOX1. With the Ct cut-off values of PAX1 gene and SOX1 gene 38.6 and 38 and with the PAX1/SOX1 in combination, the positive rate of methylation in invasive cancer tissues was 100%, in contrast to 11.5% (95% CI: 8.67%-14.33%) in cervicitis tissues, 45.1% (95% CI: 40.68%-49.52%) in LSIL tissues, and 68.5% (95% CI: 64.37%-72.63%) in HSIL tissues. The specificity and sensitivity of differentiating tumors from cervicitis were 0.957 (95% CI: 0.939-0.975) and 1.00, respectively. The specificity and sensitivity of differentiation between cervicitis+LSIL and HSIL+cervical cancer were 0.881 (95% CI: 0.852-0.91) and 0.748 (95% CI: 0.709-0.787), respectively. Conclusion: PAX1/SOX1 methylation could be translated into clinical practice for cervical neoplasia detection.

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“…18 Related studies show that methylation of PAX1 promoter region CpG islands may lead to or promote the occurrence of cervical cancer. 18,25 Current meta-analysis studies of PAX1 gene methylation mainly focused on normal and cervical cancer, and little analysis was available, regarding PAX1 gene methylation in progression of CIN. This meta-analysis, which combined results from 7 studies of 1055 patients, explores the association of PAX1 methylation with the progression of CIN.…”

Section: Discussionmentioning

confidence: 99%

PAX1 Methylation as a Potential Biomarker to Predict the Progression of Cervical Intraepithelial Neoplasia: A Meta-analysis of Related Studies

Luan

Quan

Liu

et al. 2017

Int J Gynecol Cancer

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PAX1 and SOX1 methylation as an initial screening method for cervical cancer: a meta-analysis of individual studies in Asians

Cited by 33 publications

References 35 publications

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

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

<p>A Sensitive and Simplified Classifier of Cervical Lesions Based on a Methylation-Specific PCR Assay: A Chinese Cohort Study</p>

PAX1 Methylation as a Potential Biomarker to Predict the Progression of Cervical Intraepithelial Neoplasia: A Meta-analysis of Related Studies

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