17例原发肺黏液表皮样癌的病理分析与文献复习

目的 探讨原发性肺黏液表皮样癌的组织病理、临床特征及CRTC1/3-MAML2融合基因的情况。方法 回顾分析2019—2021年中国科学技术大学附属第一医院17例原发性肺黏液表皮样癌，并对其临床信息、病理组织学形态、免疫组化及CRTC1/3-MAML2融合基因进行检测。结果 患者平均年龄为51.3±17.3岁。男女人数比例相仿。瘤体大小为3～97mm（平均值为27.4±22.6mm）。左右肺发病比例相仿。低级别黏液表皮样癌14例（82.4%），高级别黏液表皮样癌3例（17.6%）。免疫组化中，CK7和CK5/6表达率均为100%。MAML2基因重排与患者的年龄、性别、瘤体直径、部位及病理分化程度均无显著相关性（P>0.05）。结论 CRTC1/3-MAML2融合基因重排在黏液表皮样癌中的发生率高，因此MAML2基因重排可以成为原发性肺黏液表皮样癌的分子辅助诊断指标之一。

Pathological analysis and literature review of 17 cases of pulmonary mucoepidermoid carcinoma

Objective To investigate the histopathological and clinical features of primary mucoepidermoid carcinoma of the lung and the situation of CRTC1/3-MAML2 fusion gene. Methods 17 cases of mucoepidermoid carcinoma of the primary lung in the First Affiliated Hospital of University of Science and Technology of China from 2019 to 2021 were retrospectively analyzed. The clinical information, histopathological morphology, immunohistochemistry and CRTC1/3-MAML2 fusion gene were detected. Results The average age of the patients was 51.3±17.3 years. The proportion of men and women is similar. The tumor size was 3mm to 97mm (mean 27.4±22.6mm). The incidence rate of left and right lungs is similar. 14 cases (82.4%) were low-grade mucoepidermoid carcinoma and 3 cases (17.6%) were high-grade mucoepidermoid carcinoma. The expression rates of CK7 and CK5/6 were 100% in immunohistochemistry. There was no significant correlation between MAML2 gene rearrangement and age, sex, tumor diameter, location and pathological differentiation of patients (P>0.05). Conclusion The frequency of CRTC1/3-MAML2 fusion gene rearrangement is high in MEC, so MAML2 gene rearrangement can be one of the molecular diagnostic indicators of PMEC.