Liu Dong, Wu Yuke, Zhou Kunyan
Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu, China.
Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, China.
Reprod Sci. 2025 Jun 23. doi: 10.1007/s43032-025-01910-x.
Endometriosis describes the growth of extra-uterine endometrium, causing pain and inflammation, and the condition has been estimated to affect 10% of women of reproductive age. It remains under-diagnosed and has been linked to increased cancer risk. This study evaluated the correlation between endometriosis and cancer. The significance of specific loci to cancer was analyzed via Mendelian randomization (MR). Of the 4092 samples included, cancer diagnoses were self-reported by 326 women with endometriosis and 3766 women without endometriosis. Correlations between individual cancer types and endometriosis were analyzed by multivariable logistic regression models and odds ratios (OR) adjusted for confounders. Mortality was evaluated by Kaplan-Meier survival analysis. Genetic variants associated with endometriosis were linked to ovarian cancer by MR analysis. Women with endometriosis had a higher association of overall cancer (OR = 1.80, 95% CI: 1.19-2.72) and this was especially the case for ovarian cancer (OR = 11.40, 95% CI: 3.00-43.34). Subgroup and sensitivity analyses confirmed the robustness of these results. Kaplan-Meier analysis indicated lower survival from all causes in women with endometriosis (p = 0.022) but no significant difference in cancer survival. MR analysis supported a positive relationship between endometriosis and ovarian cancer (OR = 1.203, 95% CI: 1.011-1.433). The history of endometriosis was positively associated with the history of overall and ovarian cancer. Women with a history of endometriosis should have access to enhanced cancer surveillance and proactive management. Further research is needed to confirm these associations and to give mechanistic insights.
子宫内膜异位症是指子宫外的子宫内膜生长，会引起疼痛和炎症，据估计，该病症影响10%的育龄妇女。它仍然诊断不足，并且与癌症风险增加有关。本研究评估了子宫内膜异位症与癌症之间的相关性。通过孟德尔随机化（MR）分析特定基因座与癌症的关联性。在纳入的4092个样本中，326名患有子宫内膜异位症的女性和3766名没有子宫内膜异位症的女性自我报告了癌症诊断情况。通过多变量逻辑回归模型和调整混杂因素后的优势比（OR）分析了个体癌症类型与子宫内膜异位症之间的相关性。通过Kaplan-Meier生存分析评估死亡率。通过MR分析，与子宫内膜异位症相关的基因变异与卵巢癌有关。患有子宫内膜异位症的女性患总体癌症的关联性更高（OR = 1.80，95%置信区间：1.19 - 2.72），卵巢癌尤其如此（OR = 11.40，95%置信区间：3.00 - 43.34）。亚组分析和敏感性分析证实了这些结果的稳健性。Kaplan-Meier分析表明，患有子宫内膜异位症的女性全因生存率较低（p = 0.022），但癌症生存率无显著差异。MR分析支持子宫内膜异位症与卵巢癌之间存在正相关关系（OR = 1.203，95%置信区间：1.011 - 1.433）。子宫内膜异位症病史与总体癌症和卵巢癌病史呈正相关。有子宫内膜异位症病史的女性应接受强化癌症监测和积极管理。需要进一步研究来证实这些关联并提供机制性见解。
