■血管周围上皮样细胞肿瘤(PEComas)是间充质肿瘤家族,很少作为原发性骨肿瘤出现。
■我们报告一例原发性恶性骨PEComa。通过PubMed进行的文献综述,使用关键字\"PEComa\"和\"bone\"进行Embase和WebofScience数据库。
■我们报道了一名33岁女性患者,患有右肱骨远端原发性恶性骨PEComa。根据转录因子E3(TFE3)重排的阴性分子研究结果,患者接受了哺乳动物雷帕霉素靶蛋白(mTOR)抑制剂,和其他疗法,包括姑息性放疗,当检测到疾病进展时,抗血管生成素和免疫治疗。患者在术后23个月患有该疾病。共检索到19例相关文献。考虑到目前的情况,10名男性和10名女性,平均年龄为24岁(范围,3-93年)被确定,最常在胫骨受累。中位随访时间为24个月(范围,3-96个月)。一个病人死于这种疾病,6例患者出现转移。三名患者复发,其中两个经历了两次和三次,分别。
■据我们所知,这是第一例原发性恶性骨PEComa出现在肱骨。临床病理和放射学相关性对于正确诊断和确定其恶性是强制性的。需要更多的研究来了解分子测试和成像在选择合适的治疗方法和治疗抵抗机制中的作用。
UNASSIGNED: Perivascular epithelioid cell tumors (PEComas) are a family of mesenchymal tumors that rarely arise as a primary bone tumor.
UNASSIGNED: We report a case of primary malignant bone PEComa. A literature review via PubMed, Embase and Web of Science databases with the keyword \"PEComa\" and \"bone\" was performed.
UNASSIGNED: We reported a 33-year-old female with primary malignant bone PEComa in right distal humerus. The patient received an inhibitor of the mammalian target of rapamycin (mTOR) protein based on negative molecular investigation result of transcription factor E3 (TFE3) rearrangement, and additional therapies including palliative radiotherapy, anti-angiogenics and immunotherapy when the disease progression was detected. The patient was alive with the disease twenty-three months postoperatively. A total of nineteen related literature cases were retrieved and reviewed. Taking current case into account, ten males and ten females with median age of 24 years (range, 3-93 years) were identified, who were most frequently affected in tibia. The median follow-up duration of 24 months (range, 3-96 months). One patient died due to this disease, and six patients showed metastases. Three patients experienced recurrence, and two of them experienced twice and three times, respectively.
UNASSIGNED: To our knowledge, this is the first case of primary malignant bone PEComa arising in humerus. Clinicopathological and radiological correlation is mandatory to the correct diagnosis and to determine its malignancy. More studies are required to understand the role of molecular test and imaging in selecting suitable treatment and mechanisms of treatment resistance.