子宫内膜异位症相关性卵巢癌的研究进展

Research Progress on Endometriosis-Associated Ovarian Cancer

摘要: 子宫内膜异位症相关性卵巢癌(EAOC)是兼具病理连续性与分子演进特征的特殊卵巢肿瘤谱系，以卵巢透明细胞癌、子宫内膜样癌为核心病理亚型。本文围绕子宫内膜异位症相关性卵巢癌(Endometriosis-Associated Ovarian Cancer, EAOC)的概念、发病机制、临床特征、病理与预后及治疗进展进行系统综述，对EAOC的临床特征和预后进行探讨。明确EAOC并非内异症与卵巢癌的偶然并存，而是依托氧化应激、慢性炎症微环境，叠加ARID1A、PIK3CA等关键基因突变逐步进展的连续性病变；非典型内异症是良恶性转化的重要中间桥梁，年龄、囊肿大小、影像学壁结节等为核心高危预警因素。临床中EAOC症状缺乏特异性，单一血清CA125鉴别价值有限，需整合多模态影像、动态病情监测实现早期识别；其预后受病理亚型、手术减瘤效果、临床分期显著影响，透明细胞癌化疗敏感性偏弱，靶向、免疫及抗血管生成治疗成为新型探索方向，同时需结合患者生育需求推行个体化分层诊疗。当前EAOC研究仍存在病理诊断标准不统一、前瞻性临床证据不足等问题。未来应规范病理判定与取材标准，构建整合临床、影像、分子标志物的精准风险预警体系，深化不同病理亚型的机制研究与靶向治疗探索，推动EAOC实现早期筛查、精准诊断与个体化全程管理。

Abstract: Endometriosis-associated ovarian cancer (EAOC) constitutes a unique ovarian tumor spectrum characterized by pathological continuity and molecular progression, with ovarian clear cell carcinoma and endometrioid carcinoma as the predominant pathological subtypes. This article systematically reviews the concept, pathogenesis, clinical features, pathology, prognosis, and therapeutic advances of EAOC, with an emphasis on its clinical characteristics and prognostic implications. EAOC is confirmed not to represent incidental coexistence of endometriosis and ovarian cancer, but a continuous disease spectrum driven by oxidative stress and chronic inflammatory microenvironments, together with cumulative alterations in key genes including ARID1A and PIK3CA. Atypical endometriosis acts as a critical intermediate lesion in malignant transformation, while advanced age, enlarged cyst size, and imaging-detected mural nodules represent major high-risk warning factors. Clinically, EAOC often presents with nonspecific symptoms, and serum CA125 alone has limited differential diagnostic value; early identification relies on integrated multimodal imaging and dynamic surveillance. Patient prognosis is markedly influenced by histological subtype, quality of cytoreductive surgery, and clinical stage. Clear cell carcinoma generally exhibits poor chemosensitivity, making targeted therapy, immunotherapy, and antiangiogenic strategies important emerging research directions. Individualized stratified management is therefore recommended according to fertility requirements. Current research limitations include inconsistent pathological diagnostic criteria and insufficient prospective clinical evidence. Future efforts should standardize pathological evaluation and sampling protocols, establish precise risk prediction models combining clinical, radiological, and molecular biomarkers, deepen mechanistic investigations across different subtypes, and optimize targeted therapies, thereby facilitating early screening, accurate diagnosis, and personalized whole-course management of EAOC.