NUT癌10例临床病理分析

Clinicopathological analysis of 10 cases of NUT carcinoma

目的 探讨睾丸核蛋白(nuclear protein in testis,NUT)癌的临床病理学特征、诊断及鉴别诊断。方法 收集10例NUT癌临床病理资料,采用免疫组化和FISH法对NUT癌进行检测,并复习相关文献。结果 10例NUT癌均发生于头颈部或肺脏,平均年龄35.7岁。组织学特点:8例为形态单一的圆形或卵圆形未分化肿瘤细胞,有少量或中等量淡粉染或透明胞质,典型者呈“煎蛋样”。肿瘤细胞呈巢团状或片状分布,浸润性生长。2例为未分化圆形肿瘤细胞伴突然的鳞状细胞分化。免疫表型:10例肿瘤细胞核NUT弥漫表达,9例表达p63和p40,部分病例亦表达CK5/6、CK7、CK8/18、MOC31、EMA、S-100和p16,8例p53为野生型,4例弥漫表达干细胞转录因子SOX-2。FISH检测4例有NUT基因重排。结论 NUT癌是一种罕见的高侵袭性恶性肿瘤,有独特的形态学特点、免疫表型及分子遗传学改变,应避免误诊。

Purpose To investigate the clinicopathological features,diagnosis and differential diagnosis of NUT carcinoma.Methods Clinical data of 10 cases of NUT cancer were collected.Immunohistochemical and FISH methods were used to examine the clinicopathological features of NUT carcinoma,and relevant literatures were reviewed.Results All 10 cases occurred in the head and neck regions or lung.Histological features:eight cases were composed of single round or oval undifferentiated tumor cells,with a small or moderate amount of light pink or clear cytoplasm and the classical tumor cells were “fried egg-like”.Tumor cells were arranged in nests or cords with infiltrating growth.Two cases were undifferentiated round tumor cells with abrupt squamous cell differentiation.Immunophenotype:10cases of tumor cells were diffusely positive for nuclear NUT and 9cases expressed p63 and p40,some cases also expressed CK5/6,CK7,CK8/18,MOC31,EMA,S-100 and p16.8 cases showed a wild-type expression pattern of p53,and 4 cases were diffusely positive for stem cell transcription factor SOX-2.NUT gene rearrangement were detected in 4 cases by FISH.Conclusion NUT carcinoma is a rare and highly invasive malignant tumor with characteristic morphological characteristics,immunophenotypic and molecular genetic changes,which should be further recognized to avoid misdiagnosis.