PAX1 and SOX1 Gene Methylation as a Detection and Triage Method for Cervical Intraepithelial Neoplasia Diagnosis.

IF 1.6 4区 医学 Q3 PATHOLOGY
Acta Cytologica Pub Date : 2024-01-01 Epub Date: 2024-03-25 DOI:10.1159/000538464
Yan Gao, Dan Zi, Wentong Liang, Fang Qiu, Jie Zheng, Xuelian Xiao, Engli Jiang, Yuwei Xu
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引用次数: 0

Abstract

Introduction: Methylation assays have demonstrated potential as dependable and high-precision approaches for identifying or triaging individuals with cervical cancer (CA) or cervical intraepithelial neoplasia (CIN). Our investigation aimed to assess the efficacy of the diagnosis and triage of the PAX1/SOX1 methylation panel in detecting CIN or CA.

Methods: A total of 461 patients with abnormal high-risk human papillomavirus (hrHPV) or cytology test results were recruited for this study. Each patient underwent an assortment of assessments, comprising a cytology test, hrHPV test, colposcopy examination, and PAX1 and SOX1 methylation tests.

Results: The extent of methylation of both genes demonstrates a positive correlation with the severity of CIN lesions and CA. To determine the correlation for patients with CIN2 or worse (CIN2+), the area under curve was 0.821 (95% CI: 0.782-0.853) for PAX1 and 0.800 (95% CI: 0.766-0.838) for SOX1, while for CIN3 or worse (CIN3+), 0.881 (95% CI: 0.839-0.908) for PAX1 and 0.867 (95% CI: 0.830-0.901) for SOX1. The PAX1/SOX1 methylation marker panel performed sensitivity and specificity of 77.16% and 91.67% for CIN2+, 84.76% and 90.50% for CIN3+, respectively. Regarding triaging hrHPV+ patients, the PAX1/SOX1 methylation test only referred 11.83% of the patients who are unnecessary for colonoscopy examination, which is comparatively lower than cytology, thereby signifying a promising triage strategy for hrHPV-positive women. Furthermore, we observed that the positive PAX1/SOX1 methylation test result for untreated CIN1 or fewer patients would result in a higher likelihood of progression upon a 24-month follow-up visit.

Conclusion: The present investigation demonstrates that the PAX1/SOX1 methylation marker panel exhibits favorable diagnostic performance in CIN detection and holds the potential to be employed for individual CIN tests or hrHPV-positive triage.

将 PAX1 和 SOX1 基因甲基化作为宫颈上皮内瘤变诊断的检测和分流方法。
导言:甲基化检测已被证明是一种可靠、高精度的方法,可用于识别或分流宫颈癌(CA)或宫颈上皮内瘤变(CIN)患者。我们的调查旨在评估 PAX1/SOX1 甲基化面板在检测 CIN 或 CA 方面的诊断和分流效果:本研究共招募了461名高危人乳头瘤病毒(hrHPV)或细胞学检测结果异常的患者。每位患者都接受了包括细胞学检测、hrHPV 检测、阴道镜检查以及 PAX1 和 SOX1 甲基化检测在内的各种评估:结果:这两个基因的甲基化程度与 CIN 病变和 CA 的严重程度呈正相关。在确定CIN2或更严重(CIN2+)患者的相关性时,PAX1的曲线下面积(AUC)为0.821(95%CI 0.782-0.853),SOX1为0.800(95%CI 0.766-0.838);而在CIN3或更严重(CIN3+)患者中,PAX1为0.881(95%CI 0.839-0.908),SOX1为0.867(95% 0.830-0.901)。PAX1/SOX1甲基化标记面板对CIN2+的敏感性和特异性分别为77.16%和91.67%,对CIN3+的敏感性和特异性分别为84.76%和90.50%。在分流 hrHPV+ 患者方面,PAX1/SOX1 甲基化检测仅分流了 11.83% 无需进行结肠镜检查的患者,这一比例相对低于细胞学检查,因此对于 hr-HPV 阳性女性来说,这是一种很有前景的分流策略。此外,我们还观察到,未经治疗的 CIN1 或以下患者的 PAX1/SOX1 甲基化检测结果呈阳性,在 24 个月的随访中病情恶化的可能性较高:本研究表明,PAX1/SOX1 甲基化标记物面板在 CIN 检测中表现出良好的诊断性能,有望用于单个 CIN 检测或 hrHPV 阳性患者的分流。
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来源期刊
Acta Cytologica
Acta Cytologica 生物-病理学
CiteScore
3.70
自引率
11.10%
发文量
46
审稿时长
4-8 weeks
期刊介绍: With articles offering an excellent balance between clinical cytology and cytopathology, ''Acta Cytologica'' fosters the understanding of the pathogenetic mechanisms behind cytomorphology and thus facilitates the translation of frontline research into clinical practice. As the official journal of the International Academy of Cytology and affiliated to over 50 national cytology societies around the world, ''Acta Cytologica'' evaluates new and existing diagnostic applications of scientific advances as well as their clinical correlations. Original papers, review articles, meta-analyses, novel insights from clinical practice, and letters to the editor cover topics from diagnostic cytopathology, gynecologic and non-gynecologic cytopathology to fine needle aspiration, molecular techniques and their diagnostic applications. As the perfect reference for practical use, ''Acta Cytologica'' addresses a multidisciplinary audience practicing clinical cytopathology, cell biology, oncology, interventional radiology, otorhinolaryngology, gastroenterology, urology, pulmonology and preventive medicine.
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