NUT Carcinoma of the Salivary Glands: Clinicopathologic and Molecular Analysis of 3 Cases and a Survey of NUT Expression in Salivary Gland Carcinomas.
NUT Carcinoma of the Salivary Glands: Clinicopathologic and Molecular Analysis of 3 Cases and a Survey of NUT Expression in Salivary Gland Carcinomas.
复制标题
DOI：
10.1097/pas.0000000000001046
复制
发表时间：
2018-07
期刊：
影响因子：
--
通讯作者：
Fisher C
中科院分区：
文献类型：
--
作者：
Agaimy A;Fonseca I;Martins C;Thway K;Barrette R;Harrington KJ;Hartmann A;French CA;Fisher C
NUT 癌 (NC) 是一种罕见的高度侵袭性低分化癌，其特征是 NUT（又名 NUTM1，睾丸核蛋白）基因重排，最常见的是与 BRD4 融合。 NC 最初被描述为纵隔/胸腺恶性肿瘤，现已在包括上呼吸消化道和下呼吸消化道在内的多个解剖区域均有报道。迄今为止，仅报告了 7 例可能源自唾液腺的 NC 病例。我们在此描述了两名女性（39 岁和 55 岁）和一名男性（35 岁）的三例新病例（均影响腮腺）。组织学检查显示分化差的肿瘤由粘性差的中小型细胞组成，具有局灶性和突变性的可变鳞状细胞成分。免疫组织化学显示肿瘤细胞核中p63的均匀表达和NUT抗原的独特点状表达。对报告的唾液腺 NC 病例（总数：10）的审查显示，男性：女性比例为 1.5：1，年龄范围为 12 至 55 岁（中位数：29）。原发肿瘤部位为腮腺 (7)、舌下腺 (2) 和颌下腺 (1)。所有患者均表现为快速生长的肿块，通过手术治疗，然后进行辅助放疗/化疗。 8/10 初始淋巴结状态呈阳性。在最后一次随访（1 至 24 个月；中位数：5）中，7/10 的患者在中位数 5.5 个月（1-24 个月）时死于疾病，只有两人在 7 个月和 14 个月时无病死亡。在具有遗传数据的 9 例中，融合伴侣为 BRD4 (n=7)、非 BRD4/3 (n=1) 或未确定 (n=1)。通过 NUT IHC 筛查的 306 种唾液腺癌类型均未呈阳性。这是第一个关于唾液腺癌的小型系列文章，强调了将这种罕见疾病纳入低分化唾液腺癌和可能的来源不明的低分化癌的鉴别诊断中的重要性。
NUT carcinoma (NC) represents a rare subset of highly aggressive poorly differentiated carcinomas characterized by rearrangement of the NUT (aka NUTM1, nuclear protein in testis) gene, most commonly fused to BRD4. Originally described as a mediastinal/thymic malignancy, NC has been reported at a variety of anatomic regions including the upper and lower aerodigestive tract. To date, only seven NC cases of probable salivary gland origin have been reported. We herein describe three new cases (all affecting the parotid gland) in two women (39 and 55 years old) and one man (35-years old). Histological examination showed poorly differentiated neoplasms composed of poorly cohesive small to medium-sized cells with variable squamoid cell component that was focal and abrupt. Immunohistochemistry showed uniform expression of p63 and distinctive punctate expression of the NUT antigen in the tumor cell nuclei. Review of the reported salivary gland NC cases (total: 10) showed a male: female ratio of 1.5:1 and an age range of 12 to 55 years (median: 29). Site of the primary tumor was the parotid (7), sublingual (2) and submandibular (1) glands. All presented as rapidly growing masses treated by surgery followed by adjuvant radio-/chemotherapy. Initial nodal status was positive in 8/10. At last follow-up (1 to 24 months; median: 5), 7/10 patients died of disease at a median of 5.5 months (1-24 months) and only two were disease-free at 7 and 14 months. Of 9 cases with genetic data, the fusion partner was BRD4 (n=7), non-BRD4/3 (n=1) or undetermined (n=1). None of 306 carcinomas spanning the spectrum of salivary carcinoma types screened by NUT IHC was positive. This is the first small series on salivary NC highlighting the importance to include this rare disease in the differential diagnosis of poorly differentiated salivary gland carcinomas and in cases of presumable poorly differentiated carcinoma of unknown origin.