Seharada Kai, Kitazawa Masato, Nakamura Satoshi, Yamamoto Yuta, Soejima Yuji
Surgery, Shinshu University School of Medicine, Matsumoto, JPN.
Cureus. 2025 Feb 15;17(2):e79061. doi: 10.7759/cureus.79061. eCollection 2025 Feb.
Tuberous sclerosis (TSC) is a genetic disorder characterized by the development of benign tumors in various organs such as the brain, heart, lungs, kidneys, skin, and gastrointestinal tract. Perivascular epithelioid cell tumors (PEComas) are rare mesenchymal tumors associated with TSC. Primary gastrointestinal PEComas are uncommon. This report describes a PEComa in the ascending colon of a patient with TSC and presents a review of the relevant literature. A 33-year-old female patient with a history of TSC presented with a 30-mm mass in the ascending colon that had remained stable for two years. A colonoscopy revealed a 30-mm submucosal tumor in the ascending colon, and non-neoplastic biopsy results were observed. Contrast-enhanced computed tomography revealed a 30-mm mass in the ascending colon with early contrast enhancement. After considering the differential diagnoses of PEComas, gastrointestinal stromal tumors, and leiomyomas/leiomyosarcomas, laparoscopic ileocecal resection was performed. A white extramural tumor that was covered with a capsule was observed in the ascending colon intraoperatively. The histopathological analysis results suggested a complex array of spindle cells. The immunohistochemistry results for alpha-smooth muscle actin, desmin, and human melanoma black (HMB)-45 were positive, and those for c-kit and S100 were negative, thus confirming the diagnosis of a PEComa. This case highlights the importance of considering PEComas when patients with TSC present with submucosal gastrointestinal tumors and the need for careful diagnostic evaluations of such cases.
结节性硬化症（TSC）是一种遗传性疾病，其特征是在脑、心脏、肺、肾脏、皮肤和胃肠道等各种器官中形成良性肿瘤。血管周上皮样细胞瘤（PEComas）是与TSC相关的罕见间叶性肿瘤。原发性胃肠道PEComas并不常见。本报告描述了一名患有TSC的患者升结肠中的PEComa，并对相关文献进行了综述。一名有TSC病史的33岁女性患者，升结肠有一个30毫米的肿块，已稳定两年。结肠镜检查发现升结肠有一个30毫米的黏膜下肿瘤，活检结果为非肿瘤性。增强计算机断层扫描显示升结肠有一个30毫米的肿块，早期有对比增强。在考虑了PEComas、胃肠道间质瘤和平滑肌瘤/平滑肌肉瘤的鉴别诊断后，进行了腹腔镜回盲部切除术。术中在升结肠观察到一个有包膜的白色壁外肿瘤。组织病理学分析结果显示有一系列复杂的梭形细胞。α-平滑肌肌动蛋白、结蛋白和人黑素瘤黑色（HMB）-45的免疫组织化学结果为阳性，c-kit和S100的结果为阴性，从而确诊为PEComa。该病例强调了TSC患者出现胃肠道黏膜下肿瘤时考虑PEComas的重要性，以及对此类病例进行仔细诊断评估的必要性。
