文章：

子宫恶性血管周上皮样细胞瘤（PEComa）：一种罕见的间叶性肿瘤及其治疗挑战

Malignant Perivascular Epithelioid Cell Tumor (PEComa) of the Uterus: A Rare Type of Mesenchymal Tumors and a Management Challenge

原文发布日期：28 June 2025

DOI: 10.3390/cancers17132185

类型: Article

开放获取: 是

英文摘要：

Gynecologic perivascular epithelioid cell tumors (PEComas) are rare mesenchymal neoplasms characterized by the co-expression of melanocytic markers (HMB-45 and Melan-A) and smooth muscle markers (SMA, desmin, and caldesmon). The uterus is the most common organ affected, with approximately 110 cases reported worldwide, while occurrences in the cervix, vagina, ovary, and other gynecologic locations are exceptionally rare. These tumors typically present with nonspecific symptoms such as abnormal uterine bleeding and pelvic pain, often mimicking other uterine neoplasms. Histopathologically, PEComas exhibit epithelioid and spindle cell morphology with variable nuclear atypia, mitotic activity, and characteristic immunohistochemical profiles. Although most PEComas behave benignly, a subset demonstrates malignant potential, associated with larger tumor sizes, an increased mitotic index, necrosis, and vascular invasion; however, standardized diagnostic criteria remain scarce. Molecular alterations frequently involve the mTOR signaling pathway through tuberous sclerosis complex (TSC) 1 and TSC2 gene mutations, offering potential targets for therapy. Surgical resection with clear margins remains the cornerstone of treatment. For advanced or metastatic cases, mTOR inhibitors have shown promising efficacy, whereas the role of radiotherapy remains uncertain. This review aims to synthesize current knowledge regarding the epidemiology, clinical presentation, histologic features, malignant potential, and treatment of uterine PEComas, emphasizing the importance of accurate histopathological classification and molecular profiling to guide individualized therapeutic strategies.

摘要翻译： 

妇科血管周上皮样细胞肿瘤（PEComas）是一种罕见的间叶源性肿瘤，其特征为同时表达黑色素细胞标志物（HMB-45和Melan-A）和平滑肌标志物（SMA、结蛋白和钙调蛋白）。子宫是最常受累的器官，全球约报道110例，而发生于宫颈、阴道、卵巢及其他妇科部位的病例极为罕见。此类肿瘤通常表现为非特异性症状，如异常子宫出血和盆腔疼痛，常与其他子宫肿瘤相似。组织病理学上，PEComas呈现上皮样和梭形细胞形态，伴有不同程度的核异型性、核分裂活性及特征性免疫组化谱。尽管大多数PEComas呈良性行为，但部分病例具有恶性潜能，与肿瘤体积较大、核分裂指数增高、坏死及血管侵犯相关；然而，目前仍缺乏标准化的诊断标准。分子改变常涉及mTOR信号通路，通过结节性硬化复合物（TSC）1和TSC2基因突变实现，这为治疗提供了潜在靶点。手术切除并确保切缘阴性仍是治疗的基石。对于晚期或转移性病例，mTOR抑制剂已显示出良好的疗效，而放疗的作用尚不明确。本文旨在综述当前关于子宫PEComas的流行病学、临床表现、组织学特征、恶性潜能及治疗的知识，强调准确的组织病理学分类和分子谱分析对于指导个体化治疗策略的重要性。

原文链接：

Malignant Perivascular Epithelioid Cell Tumor (PEComa) of the Uterus: A Rare Type of Mesenchymal Tumors and a Management Challenge