Department of Orthopedics, Hadassah University Medical Hospital, Jerusalem, Israel
Department of Orthopedics, Hadassah University Medical Hospital, Jerusalem, Israel.
BMJ Case Rep. 2022 Dec 7;15(12):e250946. doi: 10.1136/bcr-2022-250946.
A woman in her 70s presented with a small subcutaneous retrosacrococcygeal mass and a history of elevated erythrocyte sedimentation rate present for several years. It was misdiagnosed as an inflammatory process of unclear origin. She underwent further investigation with the appearance of weight loss and weakness. A sacrococcygeal mass was noted on CT scan. A core needle biopsy was inconclusive for chordoma versus myoepithelioma. Wide surgical resection of the tumour including the coccygeal bone was performed. Following surgery, all the systemic symptoms resolved with normalisation of inflammatory markers. The pathological examination showed a relatively circumscribed multinodular myxoid tumour with lymphatic tissue cuff. Pan-sarcoma fusion analysis detected an EWSR1 (Exon7)-CREB1 (Exon7) fusion gene. The lesion was diagnosed as angiomatoid fibrous histiocytoma with paraneoplastic syndrome presentation of several years' duration.
一位 70 多岁的女性因几年前出现的小的骶尾部皮下肿块和红细胞沉降率升高而就诊。最初被误诊为不明来源的炎症过程。后来,由于体重减轻和乏力,她进一步接受了检查。CT 扫描显示骶尾部有一肿块。经皮穿刺活检不能明确诊断为脊索瘤还是肌上皮瘤。进行了广泛的肿瘤切除术,包括尾骨。手术后,所有的全身症状均得到缓解,炎症标志物恢复正常。病理检查显示一个相对边界清楚的多结节黏液样肿瘤,伴有淋巴组织袖套。泛肉瘤融合分析检测到 EWSR1(外显子 7)-CREB1(外显子 7)融合基因。该病变被诊断为伴副肿瘤综合征表现的血管瘤样纤维组织细胞瘤,病史已有数年。