Dhanesar Gurneel K, Rengarajan Harish, Chakraborty Baidarbhi
Internal Medicine, New York Medical College, Denville, USA.
Internal Medicine, New York Medical College, Saint Mary's General Hospital, Passaic, USA.
Cureus. 2023 Jul 11;15(7):e41685. doi: 10.7759/cureus.41685. eCollection 2023 Jul.
Perivascular epithelioid cell tumors (PEComa) are soft tissue tumors. They belong to the family of mesenchymal tumors and include angiomyolipomas, clear cell sugar tumors of the lung, and PEComas not otherwise specified (NOS). Tuberous sclerosis complex 1 (TSC1) and tuberous sclerosis complex 2 (TSC2) gene mutation is associated with PEComa, which causes hyperactivation of the mammalian target of rapamycin (mTOR) signaling pathway. In some cases, transcription factor E3 (TFE3) gene fusion is also observed. They are usually found in middle-aged women with clinical symptoms of abnormal uterine bleeding and pelvic pain. Radical surgical resection with clear margins is the mainstay of the treatment. We encountered a 54-year-old woman who had postmenopausal abnormal uterine bleeding. A hysterectomy was planned, but pelvic adhesions were discovered during the procedure. As a result, she underwent an exploratory laparotomy with hysterectomy, appendectomy, and total omentectomy. The biopsy of the uterus, left ovary, and a small bowel nodule revealed diffuse growth of epithelioid cells with eosinophilic granular cytoplasm with HMB45 staining, which indicated PEComa. A treatment plan with an mTOR inhibitor nab-sirolimus was proposed for the patient. Early detection, a multidisciplinary approach, and timely treatment are crucial for better disease prognosis.
血管周上皮样细胞瘤(PEComa)是软组织肿瘤。它们属于间叶组织肿瘤家族,包括血管平滑肌脂肪瘤、肺透明细胞糖瘤和未另行指定的PEComa(NOS)。结节性硬化复合物1(TSC1)和结节性硬化复合物2(TSC2)基因突变与PEComa相关,这会导致雷帕霉素哺乳动物靶点(mTOR)信号通路的过度激活。在某些情况下,还会观察到转录因子E3(TFE3)基因融合。它们通常在出现子宫异常出血和盆腔疼痛临床症状的中年女性中发现。切缘清晰的根治性手术切除是主要治疗方法。我们遇到一名54岁绝经后子宫异常出血的女性。计划进行子宫切除术,但术中发现盆腔粘连。因此,她接受了剖腹探查术,同时进行子宫切除术、阑尾切除术和网膜全切除术。对子宫、左侧卵巢和一个小肠结节的活检显示,上皮样细胞弥漫性生长,胞质呈嗜酸性颗粒状,HMB45染色阳性,提示为PEComa。为该患者提出了使用mTOR抑制剂纳巴罗汀的治疗方案。早期检测、多学科方法和及时治疗对改善疾病预后至关重要。