女性生殖系统血管周上皮样细胞肿瘤的研究进展

The Progress of Perivascular Epithelioid Cell Tumors Occurring in the Female Genital System

血管周上皮样细胞肿瘤(perivascular epithelioid cell tumors,PEComas)是一组少见的间叶组织来源肿瘤,由组织学及免疫组织化学上具有独特性的血管周上皮样细胞组成,可发生在身体的任何部位,被认为是无处不在的肿瘤。其生物学行为分为良性、恶性和恶性潜能未定。由于病例数较少,目前尚未制定恶性PEComas的具体诊断标准。女性生殖系统PEComas多发生于宫体,其生物学特性大多呈良性经过,且具体发病机制不明,部分病例与结节性硬化症的基因突变有关。该病在临床表现、影像学上缺乏特异性改变,明确诊断主要依靠组织病理学。手术切除是目前认为最直接有效的治疗手段,术后可辅助放疗和化疗,但其疗效并不确定。近年有关恶性PEComas复发和转移的报道逐渐增多,预后较差。综述女性生殖系统PEComas的临床病理学特征、诊断及鉴别诊断、治疗及预后。

Perivascular epithelioid cell tumors（PEComas） are very rare mesenchymal neoplasms composed of histologically and immunohistochemically distinctive perivascular epithelioid cells. They have been described in different organs and are considered as an ubiquitous tumors. Its biological behaviour can be divided into benign, malignant and uncertain malignant potential, but the criteria for diagnosis of malignancy have not been fully established due to the rarity of the tumor. The uterus is the most common anatomic site for PEComas occuring in the gynecological tract. Most cases behave in a benign fashion,and the precise etiopathogenesis of PEComas is unclear, some cases are related to the genetic alterations of tuberous sclerosis complex. For the disease is lack of specificity in clinical manifestation and imaging changes,the diagnosis relies mainly on histopathology. At present, surgical excision is thought to be the most direct and effective treatment, then followed by adjuvant radiotherapy and chemotherapy, but its efficacy is uncertain. Recently,reports on recurrence and metastasis of malignant PEComas are gradually increasing, and the prognosis is poorer. In this review,we carry out a comprehensive survey based on published data and discuss our current understanding of the clinicopathologic features,diagnosis and differential diagnosis,treatment and prognosis of PEComas occurring in the female genital system.