摘要：肾血管周上皮样细胞瘤(renal perivascular epithelioid cell tumor,PEComa)是起源于间质的罕见肿瘤,由独特的血管周上皮细胞组成,可累及身体多部位。诊断肾PEComa主要依靠病理学免疫组化,通过黑素细胞标记物和肌源性标记物的独特表达进行识别。其主要治疗方式为手术切除,预后良好。本文对肾PEComa的细胞组织来源、临床病理特点、诊断与治疗相关进展作一综述,旨在提供对这一罕见疾病的深入了解。

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肾血管周上皮样细胞瘤(renal perivascularepithelioid cell tumor,PEComa)属PEComa家族罕见肿瘤之一，具有潜在恶性性质，主要由周围上皮细胞(perivascular epithelioid cells,PECs)构成，可累及身体多部位，如肾脏、肝脏、肺部、胰腺和软组织等。1996年ZAMBONI等叫报道1例透明细胞糖瘤(clear cell sugar tumor,CCST),首次定义PEComa为将各个部位的肿瘤根据其组织学特点及其特殊的免疫表型特点。2002年世界卫生组织(World Health Organization,WHO)对软组织肿瘤的新分类中，将PEComa定义为一类源于间叶组织的肿瘤，这类肿瘤在组织学和免疫化学上明确展现出血管周围上皮样细胞的特点。本文对PEComa的细胞组织来源、临床病理特点、诊断与治疗相关进展作一综述。

1 临床特性

2 病理学特点

2.1 组织形态学特点

2.2 特异性免疫组化  

2.2.1 TSC  

2.2.2 转录因子结合IGHM增强子3

2.2.3 组织蛋白酶K

3 影像学特征

4 诊断

5 治疗

5.1 监测策略  

5.2 手术治疗

5.3 肾动脉栓塞术(renal artery embolism,RAE)

5.4 mTOR通路抑制剂

5.5 射频消融

6 总结

PEComa是一种罕见的、具有潜在恶性的肿瘤，主要由周围上皮细胞构成，这些细胞具有独特的免疫表型，可表达黑素细胞和肌源性标记物。尽管PEComa在影像学和临床表现上缺乏特异性，但免疫组化和病理学检查仍是确诊的关键。进一步研究探索PEComa的分子生物学机制，特别是与TSC复合体和TEF3基因表达的相关性，将有助于揭示PEComa的发病机制，为靶向治疗提供新的策略。此外，随着影像技术的不断进步，临床医师提高对PEComa影像学特征的认识将有助于提高诊断的准确性和及时性。在临床应用方面，推动个性化治疗策略的开发是未来的重要方向。例如，对于表现出TEF3基因重排的PEComa患者，探索特异性抑制剂的应用可能会改善治疗效果。同时，随着基因编辑技术的成熟，针对特定遗传变异的治疗策略也将逐渐成熟，其对提高PEComa患者的生存率和生活质量具有重要意义。尽管有关PEComa的研究已取得了进展，但仍存在多个未解决的问题，如疾病的早期诊断、恶性与良性PEComa的准确区分及复发和转移的有效监控，需更多的基础研究和临床试验。

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