Yan Hui, Zhang Shuhui, Ba Ying, Li Kun, Gao Guoling, Li Yanmin, Zhang Yan, Liu Chengxia, Shi Ning
Department of Gastroenterology, Binzhou Medical University Hospital, Binzhou, Shandong, China.
Department of Pathology, Binzhou Medical University Hospital, Binzhou, Shandong, China.
Front Oncol. 2023 Jan 16;12:1026825. doi: 10.3389/fonc.2022.1026825. eCollection 2022.
Perivascular epithelioid cell tumor of the gastrointestinal tract (GI PEComa) is a rare mesenchymal neoplasm. GI PEComa is mostly observed in the colon and has a marked middle-aged female predominance. PEComa has no typical clinical or imaging manifestations or endoscopic characteristics. Therefore, the diagnosis of this disease mostly relies on pathological findings. HMB-45 is a sensitive immune marker of PEComa.
We reported a case of a middle-aged female with sigmoid colon PEComa. To exclude carcinogenesis, the large basal polyp in the sigmoid colon was removed by endoscopic mucosal resection (EMR). Immunohistochemistry analysis results showed that this lesion expressed HMB-45, which is a characteristic melanin marker of PEComa. Finally, the lesion was diagnosed as sigmoid colon PEComa. At the time of submission of this report, surgical resection was the primary treatment for PEComa. Though the characteristics of tumor biology and clinical behavior in PEComa are not clear, the boundary is clear, and the tumor can be completely removed. However, close follow-up is required after the surgery because of the lesion's undetermined benign and malignant nature.
The present case study emphasizes the importance of pathological diagnosis. Therefore, upon finding gastrointestinal polyps with a mucosal ulcer under endoscopy, the GI PEComa diagnosis should be considered. It is necessary to detect the characteristic melanin markers of PEComa. Due to the rarity of these cases, challenges are faced in diagnosing and treating PEComa.
胃肠道血管周上皮样细胞瘤（GI PEComa）是一种罕见的间叶性肿瘤。GI PEComa多发生于结肠，以中年女性为主。PEComa没有典型的临床、影像学表现或内镜特征。因此，该病的诊断主要依靠病理检查结果。HMB-45是PEComa的一种敏感免疫标志物。
我们报告了1例患有乙状结肠PEComa的中年女性病例。为排除癌变，通过内镜黏膜切除术（EMR）切除了乙状结肠的巨大基底息肉。免疫组化分析结果显示，该病变表达HMB-45，这是PEComa的一种特征性黑色素标志物。最终，该病变被诊断为乙状结肠PEComa。在撰写本报告时，手术切除是PEComa的主要治疗方法。虽然PEComa的肿瘤生物学特性和临床行为尚不清楚，但边界清晰，肿瘤可以完全切除。然而，由于病变的良恶性性质不确定，术后需要密切随访。
本病例研究强调了病理诊断的重要性。因此，在内镜检查发现有黏膜溃疡的胃肠道息肉时，应考虑GI PEComa的诊断。检测PEComa的特征性黑色素标志物很有必要。由于这些病例罕见，PEComa的诊断和治疗面临挑战。
