[1]谌媛媛,李 静.宫颈脱落细胞中PAX1 和SOX1 基因甲基化对宫颈癌实验诊断的临床研究[J].现代检验医学杂志,2022,37(06):46-51.[doi:10.3969/j.issn.1671-7414.2022.06.009]
　CHEN Yuan-yuan,LI Jing.Clinical Study of PAX1 and SOX1 Gene Methylation in Cervical Exfoliated Cells for Experimental Diagnosis of Cervical Cancer[J].Journal of Modern Laboratory Medicine,2022,37(06):46-51.[doi:10.3969/j.issn.1671-7414.2022.06.009]
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宫颈脱落细胞中PAX1 和SOX1 基因甲基化对宫颈癌实验诊断的临床研究()
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《现代检验医学杂志》[ISSN:/CN:]

卷:
第37卷
期数:
2022年06期
页码:
46-51
栏目:
论著
出版日期:
2022-11-15

文章信息/Info

Title:
Clinical Study of PAX1 and SOX1 Gene Methylation in Cervical Exfoliated Cells for Experimental Diagnosis of Cervical Cancer
文章编号:
1671-7414(2022)06-046-06
作者:
谌媛媛1; 李 静2
(1. 阜阳市临泉县人民医院妇产科，安徽阜阳 230022；2. 西安高新医院产科；西安 710075)
Author(s):
CHEN Yuan-yuan1;  LI Jing2
(1.Department of Obstetrics and Gynecology, Fuyang Linquan People’s Hospital, Anhui Fuyang 230022, China; 2. Department of Obstetrics, Xi’an High-Tech Hospital, Xi’an 710075, China)
关键词:
宫颈癌; 配对盒家族基因1; 性别决定区域Y 盒蛋白1; 基因甲基化
分类号:
R737.33；R730.43
DOI:
10.3969/j.issn.1671-7414.2022.06.009
文献标志码:
A
摘要:
目的 检测宫颈脱落细胞中配对盒家族基因1(paired box 1，PAX1)和性别决定区域Y 盒蛋白1(sexdetermining region Y box 1，SOX1)甲基化的状态及表达水平，并分析其对宫颈病变及宫颈癌(cervical cancer, CC)的诊断价值。方法 前瞻性选取2019 年1 月~ 2021 年12 月在阜阳市临泉县人民医院经病理检查确诊的58 例宫颈癌患者为宫颈癌(CC)组，35 例高级别鳞状上皮内病变(high-grade squamous intraepithelial lesions, H-SIL)患者为H-SIL组，33 例低级别鳞状上皮内病变(low-grade squamous intraepithelial lesions, L-SIL)患者为L-SIL 组，50 例同期行健康体检的正常人群为Control 组。分别取其宫颈脱落细胞，采用甲基化特异性实时定量PCR 检测所有研究对象宫颈细胞中PAX1 和SOX1 甲基化状态和甲基化水平，并分析其甲基化状态与宫颈癌患者临床病理参数之间的关系。根据甲基化水平绘制受试者工作特征(ROC)曲线，根据曲线下面积(area under curve，AUC)分析PAX1 和SOX1 甲基化水平对宫颈病变及宫颈癌的诊断价值。结果 L-SIL 组患者PAX1 和SOX1 基因甲基化发生率分别为27.3% 和21.2%，H-SIL组患者PAX1 和SOX1 基因甲基化发生率分别为34.3% 和25.7%，CC 组患者PAX1 和SOX1 基因甲基化发生率分别为82.8% 和77.6%，显著高于Control 组(0.0%, 4.0%)，差异均有统计学意义(F=53.805，46.228，均P ＜ 0.001)。Control 组、L-SIL 组、H-SIL 组和CC组患者PAX1基因甲基化水平分别为1.86±0.64，1.55±0.28，1.46±0.30 和0.98±0.21，SOX1 基因甲基化水平分别为1.57±0.35，1.22±0.39，1.13±0.22 和0.82±0.17，各组间差异均有统计学意义(F=5.230，4.764，均P ＜ 0.05)。PAX1 和SOX1 基因甲基化状态均与淋巴结转移有明显相关性，差异有统计学意义(χ2=4.125，5.428，均P ＜ 0.05)，与年龄、肿瘤大小、临床分期、组织学类型、分化程度及WHO 病理分级等无相关性，差异均无统计学意义(χ2=0.168~2.968，均P ＞ 0.05)。PAX1 甲基化水平诊断L-SIL，H-SIL 和CC 时对应AUC分别为0.645，0.703和0.917，SOX1 甲基化水平诊断L-SIL，H-SIL 和CC 时对应AUC 分别为0.604，0.689 和0.850。结论 宫颈脱落细胞中PAX1 和SOX1 基因甲基化状态与宫颈癌患者淋巴结转移有关，且其甲基化水平对宫颈癌具有较高的诊断价值。
Abstract:
Objective To detect the methylation status and expression level of paired box 1 (PAX1) and sex determining region Y box 1 (SOX1) in cervical exfoliated cells, and analyze their diagnostic value for cervical lesions and cervical cancer(CC). Methods A total of 58 patients with cervical cancer diagnosed by pathological examination in Linquan County People’s Hospital from January 2019 to December 2021were prospectively selected as cervical cancer (CC) group, 35 patients with highgrade squamous intraepithelial lesions were selected as the H-SIL group, and 33 patients with low-grade squamous intraepithelial lesions were in the L-SIL group, and 50 patients who underwent physical examination during the same period were in the control group. Methylation-specific real-time quantitative PCR was used to detect the methylation status and methylation level of PAX1 and SOX1 in cervical cells of all subjects. Analyzed the relationship between its methylation status and clinicopathological parameters of cervical cancer patients, and used COX risk regression model to determine the independent risk factors for prognosis. Draw receiver operating characteristic curve (ROC curve) according to methylation levels, and analyzed the diagnostic value of PAX1 and SOX1 methylation levels in cervical lesions and cervical cancer according to the area under the curve AUC. Results The methylation rates of PAX1 and SOX1 genes were 27.3% and 21.2% in the L-SIL group, 34.3% and 25.7% in the H-SIL group, and 82.8%, 77.6% in the CC group, which were significantly higher than those in the control groups(0.0%，4.0%), the differences were statistically significant(F=53.805, 46.228, all P ＜ 0.001). The methylation levels of PAX1 gene in the control group, L-SIL group, H-SIL group and CC group were 1.86±0.64, 1.55±0.28, 1.46±0.30 and 0.98±0.21, respectively. SOX1 gene methylation levels were 1.57±0.35, 1.22±0.39, 1.13±0.22 and 0.82±0.17, and the difference between the groups were statistically significant(F=5.230, 4.764, all P ＜ 0.05). The methylation status of PAX1 and SOX1genes were significantly correlated with lymph node metastasis (χ2=4.125, 5.428, P<0.05), but there was no significant difference with age, tumor size, clinical stage, histological type, degree of differentiation and WHO pathological grade (χ2=0.168~2.968, all P>0.05). The results of the ROC curve showed that The corresponding AUCs of PAX1 methylation levels in the diagnosis of L-SIL, H-SIL and CC were 0.645, 0.703 and 0.917, respectively, and the corresponding AUCs of SOX1 methylation levels in the diagnosis of L-SIL, H-SIL and CC were 0.604, 0.689 and 0.850, respectively. Conclusion The methylation status of PAX1 and SOX1 genes in cervical exfoliated cells was related to lymph node metastasis in cervical cancer patients, and their methylation levels have high diagnostic sensitivity and specificity for cervical cancer.

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备注/Memo

备注/Memo:
作者简介：谌媛媛(1979-)，女，本科，副主任医师，研究方向：临床医学、妇产科学；E-mail：jim652kbl@163.com。
通讯作者：李静(1978-)，女，本科，主治医师，研究方向：妇产科学，E-mail:super_jing1978@yeah.net。
更新日期/Last Update: 2022-11-15