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NUT中线癌:病例报告及文献复习

NUT midline carcinoma: case report and review of the literature.

作者信息

Hsieh Min-Shu, French Christopher A, Liang Cher-Wei, Hsiao Cheng-Hsiang

机构信息

Department of Pathology, National Taiwan University Hospital Yun-Lin branch, Yunlin, Taiwan.

出版信息

Int J Surg Pathol. 2011 Dec;19(6):808-12. doi: 10.1177/1066896909353600. Epub 2009 Dec 24.

Abstract

NUT midline carcinoma (NMC) is a recently described, undifferentiated carcinoma with specific NUT gene rearrangement, which often involves midline organs such as the nasal cavity, paranasal sinuses, mediastinum, or intrathoracic organs. It was previously considered a disease of children or young adults, but middle-aged or elderly patients have subsequently been seen. Here, the authors report the case of a 54-year-old woman who presented with a left-nasal-cavity mass and diplopia. The tumor enlarged rapidly and extended to the left orbital cavity and brain base despite chemotherapy and radiotherapy. Pathological examination of the resected tumor showed an undifferentiated carcinoma with occasional abrupt keratinizing squamous differentiation. Immunohistochemical analysis with an antibody to NUT revealed that most of the tumor cells were positive. BRD4-NUT gene fusion was demonstrated by fluorescence in situ hybridization, confirming the diagnosis of NMC. This case emphasizes the importance of considering NMC in the differential diagnosis in older adults.

摘要

NUT中线癌(NMC)是一种最近才被描述的、具有特定NUT基因重排的未分化癌,常累及中线器官,如鼻腔、鼻窦、纵隔或胸腔内器官。它以前被认为是儿童或年轻人的疾病,但随后也发现了中年或老年患者。在此,作者报告了一例54岁女性患者,该患者表现为左侧鼻腔肿物和复视。尽管进行了化疗和放疗,肿瘤仍迅速增大并蔓延至左侧眼眶和颅底。切除肿瘤的病理检查显示为未分化癌,偶见突然角化的鳞状分化。用NUT抗体进行免疫组化分析显示,大多数肿瘤细胞呈阳性。荧光原位杂交证实存在BRD4-NUT基因融合,确诊为NMC。该病例强调了在老年患者的鉴别诊断中考虑NMC的重要性。

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