涎腺NUT癌——3例涎腺癌的临床分子病理分析及NUT在涎腺癌中的表达

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  NUT癌(NUT carcinoma,NC)是罕见高度侵袭性低分化癌的一类亚型,特征性NUT(aka NUTMl,睾丸核蛋白)基因重排,通常与BRD4基因融合。NC最初被发现在纵隔/胸腺的恶性肿瘤中,已被报道可发生于多个解剖部位,包括上、下消化道。至今,仅有7例涎腺起源的NC病例被报道。我们发现了3例新病例,2例女性(39岁和55岁)和1例男性(35岁)(均为腮腺受累)。组织学检查显示,低分化的恶性肿瘤由具有低黏附性的小到中等细胞组成,多少不等的鳞状细胞,通常局灶性且突然出现。免疫组化显示,肿瘤细胞核中存在p63的均一性表达及NUT抗原独特的点状表达。回顾文献报道的涎腺NC病例(总计,10例)发现,男女比例为1.5:1,年龄范围为12~55岁(中位数,29岁)。肿瘤原发部位为腮、腺(7例)、舌下腺(2例)和颌下腺(1例)。所有肿瘤临床表现为快速生长的局部肿块,经手术切除后辅以放/化疗。10例患者中有8例存在早期淋巴结转移。在最近一次随访时(1至24个月;中位数,5个月),10例患者中有7例在随访中位5.5个月(1至24个月)时死于该病,只有2例患者在第7个月和第14个月无病生存。9例病例的基因检测结果为BRD4基因融合(n=7)、非BRD4/3(n=1)和未检测出(n=1)。306例各类涎腺癌中无1例NUT免疫组化呈阳性。这是一个关于涎腺NC的—个小样本研究,表明了将这类罕见疾病纳入低分化涎腺癌和未确定起源的可疑低分化腺癌鉴别诊断中的重要价值。
 
Am J Surg Pathol 2018;42:877-884
美国外科病理学杂志中文版2019年第一期摘要No.2
朱宏 翻译 戚基萍 审校
  The American Journal of Surgical Pathology中文版声明:
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