Department of Pathology, Brooke Army Medical Center, 3551 Roger Brooke Dr, San Antonio, Texas, 78219, USA.
Diagn Cytopathol. 2023 Jul;51(7):E209-E213. doi: 10.1002/dc.25137. Epub 2023 Apr 6.
NUT carcinoma is an aggressive malignancy defined genetically by a balanced translocation of the NUT gene on chromosome 15q14, most commonly associated with the bromodomain-containing protein 4 (BRD4) gene on 19p13.1 but less frequently with variant genes, including BRD3 and NSD-3. We present a case report of a metastatic pulmonary NUT carcinoma found to have a BRD3-NUT fusion and to have only focal pan-cytokeratin staining. Biopsy of the pulmonary mass revealed dyscohesive cells with enlarged nuclei, prominent nucleoli and high nuclear to cytoplasmic ratio without areas of squamous differentiation. Initial immunohistochemical stains were positive for NUT, p63 and retained SMARCA4, while negative for Lu-5 (pan-cytokeratin), TTF-1, p40, S100 protein, OCT-4, HMB-45, SMA, and PAX-8. Tempus ×T assay revealed a BRD3-NUTM1 fusion gene. Post-mortem analysis revealed an ill-defined mass abutting the trachea and superior vena cava, as well as a perirenal mass.
NUT 癌是一种侵袭性恶性肿瘤，其遗传特征为 15 号染色体上的 NUT 基因平衡易位，最常与 19 号染色体上的溴结构域蛋白 4（BRD4）基因相关，但也较少与其他变异基因相关，包括 BRD3 和 NSD-3。我们报告了一例转移性肺 NUT 癌的病例，该患者发现存在 BRD3-NUT 融合，且仅局灶性泛细胞角蛋白染色。肺肿块的活检显示出黏附性差的细胞，细胞核增大，核仁明显，核质比高，无鳞状分化区域。初始免疫组织化学染色显示 NUT、p63 和保留的 SMARCA4 阳性，而 Lu-5（泛细胞角蛋白）、TTF-1、p40、S100 蛋白、OCT-4、HMB-45、SMA 和 PAX-8 阴性。Tempus ×T 检测显示 BRD3-NUTM1 融合基因。尸检分析显示气管和上腔静脉旁有一个界限不清的肿块，以及一个肾周肿块。
