Spindle and Round Cell Sarcoma With EWSR1-PATZ1 Gene Fusion: A Sarcoma With Polyphenotypic Differentiation.
Spindle and Round Cell Sarcoma With EWSR1-PATZ1 Gene Fusion: A Sarcoma With Polyphenotypic Differentiation.
复制标题
DOI：
10.1097/pas.0000000000001183
复制
发表时间：
2019-03
期刊：
影响因子：
--
通讯作者：
Deshpande V
中科院分区：
文献类型：
--
作者：
Chougule A;Taylor MS;Nardi V;Chebib I;Cote GM;Choy E;Nielsen GP;Deshpande V
圆形细胞肉瘤的分类不断演变是由分子改变驱动的。 EWSR1-PATZ1融合阳性纺锤形和圆形细胞肉瘤就是这样一种新的肿瘤实体。在此，我们报告了两种 EWSR1-PATZ1 融合阳性纺锤形和圆形细胞肉瘤，具有重叠的组织学特征和多表型分化。腹内肿瘤影响女性患者，年龄分别为 31 岁和 53 岁。两种肿瘤均显示圆形至梭形细胞的片状和巢状、精细的染色质、微小的明显核仁、中等的细胞质和粗的瘤内纤维化带。免疫组织化学显示，两个肿瘤均显示 CD99、结蛋白、肌细胞生成素、myoD1、S100、Sox10、CD34 和 GFAP 阳性，角蛋白阴性。荧光原位杂交揭示了 EWSR1 基因座的重排。基于下一代测序的 RNA 融合测定显示两种情况下都有 EWSR1-PATZ1 融合。 EWSR1-PATZ1融合阳性纺锤形和圆形细胞肉瘤表现出丰富的瘤内纤维化和多表型分化，从而模仿一系列肿瘤，包括促结缔组织增生性小圆形细胞肿瘤。这种梭形和圆形细胞肉瘤的精确分类及其与尤文肉瘤家族肿瘤的关系仍有待确定。
The evolving classification of round cell sarcomas is driven by molecular alterations. EWSR1-PATZ1 fusion positive spindle and round cell sarcoma is one such new tumor entity. Herein, we report two EWSR1-PATZ1 fusion positive spindle and round cell sarcomas with overlapping histological features and polyphenotypic differentiation. The intraabdominal tumors affected female patients, 31 and 53-year-old. Both tumors showed sheets and nests of round to spindle cells, fine chromatin, tiny conspicuous nucleoli, moderate cytoplasm and thick bands of intratumoral fibrosis. On immunohistochemistry, both tumors showed positivity for CD99, desmin, myogenin, myoD1, S100, Sox10, CD34 and GFAP and were negative for keratin. Fluorescence in-situ hybridization revealed rearrangement at EWSR1 locus. Next generation sequencing based RNA fusion assay revealed EWSR1-PATZ1 fusion in both cases. EWSR1-PATZ1 fusion positive spindle and round cell sarcomas show abundant intratumoral fibrosis and polyphenotypic differentiation, thus mimicking a range of tumors including desmoplastic small round cell tumor. The precise classification of this spindle and round cell sarcoma and its relationship to the Ewing sarcoma family of tumors remains to be determined.