硬化性上皮样纤维肉瘤和低度恶性纤维黏液样肉瘤的临床病理学特征  

Clinicopathological features of sclerosing epithelioid fibrosarcoma andlow-grade fibromyxoid sarcoma

作　　者：张彤 陆丽平 王丽华 杨邵敏[3] 任玉波[1] ZHANG Tong;LU Liping;WANG Lihua;YANG Shaomin;REN Yubo(Department of Pathology,Peking University International Hospital,Beijing 102206,China;Department of Pathology,Peking University People’s Hospital,Beijing 100044,China;Department of Pathology,Peking University Third Hospital,Beijing 100191,China)

机构地区：[1]北京大学国际医院病理科,北京102206 [2]北京大学人民医院病理科,北京100044 [3]北京大学第三医院病理科,北京100191

出　　处：《临床与实验病理学杂志》2023年第10期1197-1201,共5页Chinese Journal of Clinical and Experimental Pathology

摘　　要：目的探讨硬化性上皮样纤维肉瘤(sclerosing epithelioid fibrosarcoma,SEF)及其密切相关的低度恶性纤维黏液样肉瘤(low-grade fibromyxoid sarcoma,LGFMS)的临床病理学特征、长期预后、免疫表型和分子表型。方法回顾性分析11例SEF和5例LGFMS的临床病理资料,行HE及免疫组化染色,分别行FISH检测或高通量测序检测其基因改变,并复习相关文献。结果11例SEF肿瘤细胞呈圆形、卵圆形,细胞形态较为一致,间质可见大量深嗜伊红色的胶原纤维,部分区域细胞稀疏,肿瘤细胞呈条索状或单个夹杂在硬化性间质中,其中1例为杂合性SEF/LGFMS;5例LGFMS镜下由稀疏区和致密区构成,稀疏区间质呈黏液样,可见大量弓形血管,致密区细胞外胶原丰富,两种区域掺杂或交替分布;免疫表型:SEF和LGFMS中MUC4和vimentin均阳性;分子检测显示单纯SEF中90%(9/10)发生EWSR1基因断裂分离,10%(1/10)发生FUS基因断裂分离;1例杂合性SEF/LGFMS伴有FUS-CREB3L2基因融合;LGFMS中均检测到FUS基因断裂分离(5/5)。结论SEF和LGFMS均为低-中度恶性的纤维肉瘤,具有局部侵袭性;MUC4是其特异性标志物;SEF和LGFMS相关的基因突变常为EWSR1或FUS基因,但在发生频率上差异较大;LGFMS、杂合性SEF/LGFMS和SEF可能为一个疾病谱系,而SEF位于谱系的恶性一端,更具侵袭性。Purpose To investigate the clinicopathological features,long-term prognosis,and characteristic immunophenotypes of sclerosing epithelioid fibrosarcoma(SEF)and its closely related low-grade fibromyxoid sarcoma(LGFMS).Methods Eleven cases of SEF and 5 cases of LGFMS were selected as study subjects.HE and immunohistochemical staining were performed to analyze the pathological features,FISH test or high-throughput sequencing were performed to detect the genetic changes,and relevant literatures were reviewed.Results In the 11 cases of SEF,the tumor cells were round and oval,and the cell morphology was relatively uniform.There were a large number of deep eosinophilic collagen fibers in the stroma,and the cells were sparse in some areas.The tumor cells were in the shape of cords or single interspersed in the sclerotic stroma,and one of them was hybrid SEF/LGFMS.5 cases of LGFMS were microscopically composed of sparse area and dense area.The sparse area was myxoid in quality,with a large number of arcuate vessels.The dense area was rich in extracellular collagen,and the two areas were intermixed or distributed alternately.MUC4 and vimentin were positive in SEF and LGFMS.Molecular analysis showed that 90%(9/10)of pure SEF had EWSR1 gene breakage and 10%(1/10)FUS gene breakage.A case of hybrid SEF/LGFMS presented with FUS-CREB3L2 gene fusion.The FUS gene breakage(5/5)was detected in all cases of LGFMS.Conclusion Both SEF and LGFMS are low-to moderate-grade fibrosarcomas with local aggressivity;MUC4 is a specific marker.The gene mutations associated with SEF and LGFMS are usually EWSR1 or FUS genes,but they vary greatly in frequency.LGFMS,hybrid SEF/LGFMS and SEF may be on the same disease spectrum,while SEF is at the malignant end of the spectrum and is more aggressive.

关 键 词：硬化性上皮样纤维肉瘤 低度恶性纤维黏液样肉瘤 MUC4 EWSR1 FUS 

分 类 号：R739.9[医药卫生—肿瘤]