Kou Luan, Zheng Wen-Wen, Jia Li, Wang Xiao-Li, Zhou Ji-Hai, Hao Jiao-Rong, Liu Zhu, Gao Feng-Yu
Department of Gastroenterology, Shandong Provincial Maternal and Child Health Care Hospital, Jinan 250014, Shandong Province, China.
World J Gastrointest Oncol. 2022 Jul 15;14(7):1348-1355. doi: 10.4251/wjgo.v14.i7.1348.
Perivascular epithelioid cell tumor (PEComa) represents a group of rare mesenchymal tumors. PEComa can occur in many organs but is rare in the colorectum, especially in children. Furthermore, PEComa is a rare cause of intussusception, the telescoping of a segment of the gastrointestinal tract into an adjacent one. We describe a rare case of pediatric PEComa complicated with intussusception and anal incarceration, and conduct a review of the current literature.
A 12-year-old girl presented with abdominal pain and abdominal ultrasound suggested intussusception. Endoscopic direct-vision intussusception treatment and colonoscopy was performed. A spherical tumor was discovered in the transverse colon and removed by surgery. Postoperative pathologic analyses revealed that the tumor volume was 5.0 cm × 4.5 cm × 3.0 cm and the tumor tissue was located in the submucosa of the colon, arranged in an alveolar pattern. The cell morphology was regular, no neoplastic necrosis was observed, and nuclear fission was rare. The immunohistochemical staining results were as follows: Human melanoma black 45 (HMB 45) (+), cluster of differentiation 31 (CD31) (+), cytokeratin (-), melanoma-associated antigen recognized by T cells (-), smooth muscle actin (-), molleya (-), desmin (-), S-100 (-), CD117 (-), and Ki67 (positive rate in hot spot < 5%). Combined with the results of pathology and immunohistochemistry, we diagnosed the tumor as PEComa. Postoperative recovery was good at the 4 mo follow-up.
The diagnosis of PEComa mainly depends on pathology and immunohistochemistry. Radical resection is the preferred treatment method.
血管周上皮样细胞瘤（PEComa）是一组罕见的间叶组织肿瘤。PEComa可发生于多个器官，但在结直肠中罕见，尤其是在儿童中。此外，PEComa是肠套叠（一段胃肠道套入相邻段）的罕见病因。我们描述了1例小儿PEComa合并肠套叠及肛门嵌顿的罕见病例，并对当前文献进行综述。
一名12岁女孩因腹痛就诊，腹部超声提示肠套叠。行内镜直视下肠套叠治疗及结肠镜检查。在横结肠发现一个球形肿瘤，手术切除。术后病理分析显示肿瘤体积为5.0 cm×4.5 cm×3.0 cm，肿瘤组织位于结肠黏膜下层，呈肺泡状排列。细胞形态规则，未见肿瘤坏死，核分裂罕见。免疫组化染色结果如下：人黑色素瘤黑色45（HMB 45）（+），分化簇31（CD31）（+），细胞角蛋白（-），T细胞识别的黑色素瘤相关抗原（-），平滑肌肌动蛋白（-），莫雷亚（-），结蛋白（-），S-100（-），CD117（-），Ki67（热点阳性率<5%）。结合病理及免疫组化结果，诊断该肿瘤为PEComa。术后4个月随访恢复良好。
PEComa的诊断主要依靠病理及免疫组化。根治性切除是首选治疗方法。
