Slice Gintare, Stulpinas Rokas, Poskus Tomas, Kryzauskas Marius
Faculty of Medicine, Vilnius University, 03101 Vilnius, Lithuania.
National Center of Pathology, Affiliate of Vilnius University Hospital Santaros Klinikos, 08406 Vilnius, Lithuania.
Curr Oncol. 2025 Jun 3;32(6):330. doi: 10.3390/curroncol32060330.
Perivascular epithelioid cell tumors (PEComas) are rare mesenchymal neoplasms characterized by perivascular epithelioid cell proliferation. They can occur in various organs, but colonic PEComas are exceptionally rare, showing diagnostic challenges due to their nonspecific clinical presentation and similar features to those of other colorectal tumors. We present a case of a 61-year-old female with defecation accompanied by blood clots, initially diagnosed with a suspected tumor in the sigmoid colon. Despite initial biopsy yielding non-informative material, repeat colonoscopy and imaging studies revealed a malignant tumor with multinucleated giant (osteoclast-like) cells and probable p53 mutation, most likely of mesenchymal origin. Robotic surgical resection was performed, and ultimately pathological examination refined the diagnosis as a malignant PEComa of the colon. This case demonstrates the importance of considering PEComa in the differential diagnosis of colonic tumors. Further research is needed to ascertain the clinical behavior and optimal treatment for colonic PEComas.
血管周上皮样细胞肿瘤(PEComas)是一种罕见的间叶性肿瘤,其特征为血管周上皮样细胞增殖。它们可发生于各种器官,但结肠PEComas极为罕见,因其临床表现不具特异性且与其他结直肠肿瘤特征相似,故诊断颇具挑战。我们报告一例61岁女性,排便伴有血凝块,最初诊断为乙状结肠疑似肿瘤。尽管初次活检未获有用材料,但重复结肠镜检查和影像学研究显示为一个伴有多核巨细胞(破骨细胞样)且可能存在p53突变的恶性肿瘤,最可能起源于间叶组织。实施了机器人手术切除,最终病理检查将诊断明确为结肠恶性PEComa。该病例表明在结肠肿瘤的鉴别诊断中考虑PEComa的重要性。需要进一步研究以确定结肠PEComas的临床行为和最佳治疗方法。