Rhabdoid Variant of Myoepithelial Carcinoma, with EWSR1 Rearrangement: Expanding the Spectrum of EWSR1-Rearranged Myoepithelial Tumors
Rhabdoid Variant of Myoepithelial Carcinoma, with EWSR1 Rearrangement: Expanding the Spectrum of EWSR1-Rearranged Myoepithelial Tumors
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DOI：
10.1007/s12105-014-0556-2
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发表时间：
2015-06-01
影响因子：
2.1
通讯作者：
Fisher, Cyril
中科院分区：
文献类型：
--
作者：
Thway, Khin;Bown, Nick;Fisher, Cyril
肌上皮瘤和混合瘤代表了一组异质性肿瘤，其分类是不完整的，并继续发展。那些出现在软组织似乎代表亚群，从遗传上不同于那些发生在唾液腺。我们描述了一例横纹肌样形态的软组织肌上皮癌，表现为一个40岁男性的颈部肿块，其中EWSR 1重排被荧光原位杂交证实。这种肿瘤表现为弥漫性INI1丢失，使得与其他INI1阴性横纹肌样肿瘤难以区分。这扩大了EWSR1重排的肌上皮肿瘤的组织学特征的报道范围，并突出了这种肿瘤与其他INI1阴性的恶性横纹肌样肿瘤之间的显著形态学和免疫组化重叠。
Myoepithelial and mixed tumors represent a heterogeneous group of neoplasms for which classification is incomplete and continues to evolve. Those arising in the soft tissues appear to represent subgroups that are genetically distinct from those that occur within salivary glands. We describe a case of soft tissue myoepithelial carcinoma with rhabdoid morphology, which presented as an enlarging neck mass in a 40 year old male, and in which EWSR1 rearrangement was demonstrated by fluorescence in situ hybridization. This neoplasm showed diffuse INI1 loss, making distinction from other INI1-negative rhabdoid tumors difficult. This expands the range of reported histologic features of EWSR1-rearranged myoepithelial neoplasms, and highlights the significant morphologic and immunohistochemical overlap between this and other INI1-negative malignant rhabdoid neoplasms.