伴有EWSR1重排的肌上皮癌横纹肌样变异型：扩展EWSR1重排的肌上皮肿瘤谱
Rhabdoid Variant of Myoepithelial Carcinoma, with EWSR1 Rearrangement: Expanding the Spectrum of EWSR1-Rearranged Myoepithelial Tumors.
作者信息
Thway Khin, Bown Nick, Miah Aisha, Turner Rob, Fisher Cyril
机构信息
Sarcoma Unit, Royal Marsden Hospital, London, UK,
出版信息
Head Neck Pathol. 2015 Jun;9(2):273-9. doi: 10.1007/s12105-014-0556-2. Epub 2014 Jul 4.
Abstract
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.
摘要
肌上皮肿瘤和混合性肿瘤是一组异质性肿瘤，其分类尚不完整且仍在不断演变。发生于软组织的肿瘤似乎代表了与涎腺肿瘤在基因上不同的亚组。我们描述了一例具有横纹肌样形态的软组织肌上皮癌，该病例表现为一名40岁男性颈部肿块逐渐增大，荧光原位杂交显示其存在EWSR1重排。该肿瘤显示INI1弥漫性缺失，难以与其他INI1阴性的横纹肌样肿瘤相鉴别。这扩展了EWSR1重排的肌上皮肿瘤所报道的组织学特征范围，并突出了该肿瘤与其他INI1阴性恶性横纹肌样肿瘤之间显著的形态学和免疫组化重叠。
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