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Abstract：
Primary pulmonary myxoid sarcoma (PPMS) is a recently defined rare neoplasm with histological and molecular similarity to extraskeletal myxoid chondrosarcoma. To date, 20 cases have been reported. A 48-year-old man presented with a huge mass filling the right hemithorax and extending into the tracheobronchial system. Histological findings were consistent with PPMS. Immunohistochemistry was positive for vimentin, CD10, and EMA, but other lineage-specific markers were negative. SMARCB1 (INI1) expression was lost in the tumour cells. FISH analysis (EWSR1, FUS, NR4A3, and SMARCB1) revealed no abnormalities. This case suggests SMARCB1 loss as a possible alternative molecular event driving EWSR1-negative PPMS.
摘要：
原发性肺粘液样肉瘤（PPMS）是一种最近定义的罕见肿瘤，与骨外粘液样软骨肉瘤具有组织学和分子相似性。迄今为止,已报告20例。一名48岁的男子表现出巨大的肿块，充满了右半胸部并延伸到气管支气管系统。组织学发现与PPMS一致。免疫组织化学波形蛋白阳性，CD10和EMA,但其他谱系特异性标记均为阴性。SMARCB1(INI1)表达在肿瘤细胞中丢失。FISH分析(EWSR1，FUS，NR4A3和SMARCB1）未见异常。这种情况表明SMARCB1损失是驱动EWSR1-负PPMS的可能替代分子事件。
