腹壁骨外黏液样软骨肉瘤1例报告并文献复习

<正>骨外黏液样软骨肉瘤（extraskeletal myxoid chondrosarcoma,EMC）是一种罕见的低度恶性间充质肿瘤，发生率约占所有软组织肉瘤（soft tissue sarcoma,STS）的3%[1]。EMC组织中含有丰富的黏液样基质，生长缓慢，局部复发和转移率高。目前尚没有证据表明EMC具有软骨分化特征，因此世界卫生组织将其归类为分化不明确的肿瘤[2]。由于EMC罕见，且临床表现缺乏特异性，

Extraskeletal myxoid chondrosarcoma of abdominal wall: a case report and literature review

Objective: To analyze the clinical and pathological features of extraskeletal myxoid chondrosarcoma (EMC) in order to improve the understanding of its clinical features, diagnosis and treatment. Methods: The clinical data of a case of EMC of abdominal wall confirmed by pathology and second-generation sequencing were analyzed retrospectively. Results: After two operations and recurrences, as well as chemotherapy and radiotherapy, the patient was gradually diagnosed. After the second-generation gene sequencing, it was found that EWSR1-NR4A3 gene fusion was diagnosed as EMC. The third time, combined organ resection was performed, and the last operation was followed up for 10 months. There was no local recurrence of the tumor. Conclusion: EMC progresses slowly, with local recurrence and distant metastasis. Resection is the first choice of treatment, the curative effect of reoperation is reliable, and the curative effect of local radiotherapy and systemic chemotherapy is limited. Next generation sequencing indicates that the fusion of EWSR1-NR4A3 gene is helpful for definite diagnosis.