睾丸核蛋白中线癌临床病理学分析

Clinicopathological analysis of nuclear protein in testis midline carcinoma

目的探讨睾丸核蛋白(nuclear protein in testis,NUT)中线癌临床病理特征、免疫表型及预后。方法收集2018年1月至2022年9月中国医学科学院肿瘤医院确诊的24例NUT中线癌术后病例,回顾性分析其临床病理学特点,并复习相关文献。结果24例NUT中线癌均发生于胸部或头颈部,男性14例,女性10例,中位年龄40岁。组织学特点:肿瘤分化较差,呈实性巢片状排列,细胞小至中等大小,胞质稀少,染色质粗颗粒状,其中5例伴陡然鳞状上皮分化。免疫组织化学染色:100%(24/24)NUT蛋白阳性,16例p63阳性,19例p40阳性,18例中15例CK5/6阳性,24例中1例出现INI1蛋白缺失。荧光原位杂交检测:5例进行NUT(15q14)基因断裂荧光原位杂交检测,均为阳性。21例患者获得随访资料,3例失访,随访时间1~21个月,其中11例存活,10例死亡。结论NUT中线癌是一种罕见高度侵袭性的恶性肿瘤,具有独特的组织形态、免疫表型和分子学特征,预后较差。

Objective To investigate the clinicopathological features,immunophenotype and prognosis of nuclear protein in testis(NUT)midline carcinoma.Methods Twenty-four resection cases of NUT midline carcinoma diagnosed at the Department of Pathology,Cancer Hospital,Chinese Academy of Medical Sciences and Peking Union Medical College,Beijing,China from January 2018 to September 2022,were collected,and retrospectively analyzed for their clinicopathological characteristics.Relevant literature was reviewed.Results All 24 cases of NUT midline carcinoma occurred in the chest or head and neck,including 14 men and 10 women,with a median age of 40 years.Histological examination showed that the tumors were poorly differentiated,with solid nested or sheet-like arrangement,small to medium-sized cells,sparse cytoplasm and coarse granular chromatin,including 5 cases with abrupt squamous epithelial differentiation.Immunohistochemistry showed that all 24 cases were positive for NUT protein,while 16 cases were p63 positive,19 cases were p40 positive,15 out of 18 cases were CK5/6 positive.Follow-up data were obtained for 21 patients(follow-up time range,1-21 months),of which 11 survived,10 died,and 3 were lost to follow-up.Conclusions NUT midline carcinoma is a rare and highly aggressive malignancy with unique histological,immunophenotypic and molecular features.It has a poor prognosis.