The significance of hypermethylation level of CDO1 gene and HOXA9 gene in serum in the diagnosis of ovarian cancer
10.3760/cma.j.cn114452-20231115-00287
- VernacularTitle:血清中CDO1基因与HOXA9基因启动子甲基化高表达在卵巢癌诊断中的意义
- Author:
Qiannan HOU
1
;
Yu YUAN
;
Yan LI
;
Zhaolin GONG
;
Qiang ZHANG
;
Dan FENG
;
Yuanfu GONG
;
Linhai WANG
;
Pei LIU
;
Xiaobing XIE
;
Li HE
Author Information
1. 成都市妇女儿童中心医院妇科，成都 610073
- Keywords:
Ovarian neoplasms;
DNA methylation;
Screening
- From:
Chinese Journal of Laboratory Medicine
2024;47(4):401-406
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the clinical application and triage management value of using blood circulating cell-free DNA (cfDNA) (cysteine dioxygenase type 1 gene, CDO1, and Homeobox protein A9 gene, HOXA9) hypermethylation level to detect and diagnose ovarian cancer.Methods:A case-control study was conducted on patients who went for surgery at Chengdu Womens and Childrens Central Hospital from November 2022 to October 2023. Blood samples were collected before surgery for evaluation of cancer antigen 125 (CA125), human epididymis protein 4 (HE4), risk of ovarian malignancy algorithm (ROMA) score, and DNA methylation testing. The basic clinical information, biomarkers, and transvaginal ultrasound (TVS) information were collected simultaneously. Information from a total of 151 patients was collected, including 122 cases with benign pathology and 29 ovarian cancer cases. The pathologic diagnosis of ovarian tissue was defined as the gold standard. The multivariate logistic regression analysis was used to identify high-risk factors for ovarian cancer. The clinical efficacy of DNA methylation detection for ovarian cancer was analyzed using the area under curve (AUC).Results:The results showed that the age, menopausal status, CA125 and HE4 detection, ROMA score, positivity rate of CDO1 gene and HOXA9 gene single or combined testing in ovarian cancer patients were higher than those in the benign group and showed significant differences ( P<0.05). Among these detection protocols, the AUC of CDO1 and HOXA9 dual gene methylation testing for ovarian cancer was the highest at 0.936 (95% CI, 0.878-0.994), with 89.7% (95% CI 73.6%-96.4%) sensitivity and 97.5% (95% CI 93.0%-99.2%) specificity, respectively. The positive detection rate of CDO1 and HOXA9 dual gene methylation in early ovarian cancer FOGO I-II stage is 12/14 higher than other tests. Conclusion:Blood cfDNA methylation detection, a simple, non-invasive, and highly sensitive detection method, is superior to the current ovarian cancer testing in the risk assessment and early detection.
