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Primary Renal Sclerosing Epithelioid Fibrosarcoma: Report of 2 Cases With EWSR1-CREB3L1 Gene Fusion.

原发肾脏硬化性上皮样纤维肉瘤:伴EWSR1-CREB3L1基因融合2例报道

Argani P,Lewin JR,Edmonds P,Netto GJ,Prieto-Granada C,Zhang L,Jungbluth AA,Antonescu CR

Abstract

We report the first 2 genetically confirmed cases of primary renal sclerosing epithelioid fibrosarcoma (SEF), occurring in a 17-year-old boy and a 61-year-old woman. In both cases, the tumors demonstrated the typical epithelioid clear cell morphology associated with extensive hyalinizing fibrosis, raising the differential diagnosis of solitary fibrous tumor, metanephric stromal tumor, and the sclerosing variant of clear cell sarcoma of the kidney. Both neoplasms demonstrated diffuse immunoreactivity for MUC4, a highly specific marker for SEF, and both demonstrated evidence of rearrangement of both the EWSR1 and CREB3L1 genes, which have recently been shown to be fused in this entity. Both neoplasms presented with metastatic disease. Primary renal SEF represents yet another translocation-associated sarcoma now shown to arise primarily in the kidney.

摘要

我们首次报道两例基因确诊的原发肾硬化性上皮样纤维肉瘤(SEF),一例为17岁男孩,另一例为61岁女性。两例均显示为典型的上皮样透明细胞伴有广泛的透明变性纤维化,组织形态上需要与孤立性纤维性肿瘤、肾源性间质肿瘤及肾透明细胞肉瘤硬化亚型鉴别。两例都对SEF的特异性标记MUC-4弥漫强表达,并且都有EWSR1及CREB3L1基因重排的证据,而这两个基因近期被证实在肿瘤中有融合。两例都有肿瘤转移。原发性肾SEF可能是另一种基因异位相关的原发于肾的肿瘤。

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