伴FET-CREB融合的颅内间叶性肿瘤1例报告并文献复习

Intracranial mesenchymal tumor with FET-CREB fusion:report of one case and review of literature

目的探讨颅内间叶性肿瘤,FET-CREB融合阳性型的临床病理特征、免疫表型及鉴别诊断。方法回顾性分析1例颅内间叶性肿瘤,FET-CREB融合阳性型的临床病理特征及免疫表型。运用高通量测序检测其基因改变并复习相关文献。结果肿瘤呈漩涡状、结节状分布,肿瘤细胞疏密不等,部分区域瘤细胞稀疏,稀疏区间质黏液样变性;部分区域细胞致密,呈弥漫片状分布,间质可见胶原化改变,局灶可见血管瘤样结构区及带状淋巴细胞浸润灶。免疫组化:瘤细胞CD99、Desmin弥漫阳性,MUC-4部分阳性,INI-1表达未缺失。高通量测序检测出肿瘤EWSR1:CREB1基因融合。结论颅内间叶性肿瘤,FET-CREB融合阳性型组织形态多样,缺少特异性的免疫表型,需结合组织病理、免疫表型及分子病理综合诊断。

Objective To investigate the clinicopathological features,immunophenotype,and differential diagnosis of intracranial mesenchymal tumor with FET-CREB fusion.Methods Clinicopathological characteristics and immunophenotype of an intracranial mesenchymal tumor,FET-CREB fusion-positive were retrospectively analyzed.High-throughput sequencing was used for detecting changes in gene expression and the literature was reviewed.Results Histopathology showed the tumor cells were in the whirlpool and nodular distribution,with varying tumor cell density.In some areas,tumor cells were sparse,with interval mucoid degeneration.In certain regions,the stroma exhibited collagenous alterations,the cells were dense and distributed in a diffuse sheet-like pattern,and focally,hemangioma-like structures and bands of lymphocytic infiltration were seen.Immunohistochemistry showed that both CD99 and Desmin were strongly positive,and MUC-4 and INI-1 were positive.High throughput sequencing detection of tumor confirmend EWSR1::CREB1 fusion.Conclusion Intracranial mesenchymal tumor,with FET-CREB fusion,has morphologically diverse and lacks specific immunophenotypes,which needs to be diagnosed by a combination of histopathology,immunophenotype,and molecular pathology.