支气管涎腺乳头状瘤4例临床病理及基因特征分析  

Clinicopathological and genetic characteristics of bronchial sialadenoma papilliferum:report of four cases

作　　者：梁琳 武春燕[1] 张莉萍[1] 侯立坤[1] 董正伟[1] 吴伟[1] 林洁璐 黄焰[1] 谢惠康[1] Liang Lin;Wu Chunyan;Zhang Liping;Hou Likun;Dong Zhengwei;Wu Wei;Lin Jielu;Huang Yan;Xie Huikang(Department of Pathology,Shanghai Pulmonary Hospital,Tongji University School of Medicine,Shanghai 200433,China)

机构地区：[1]同济大学附属上海市肺科医院病理科,上海200433

出　　处：《中华病理学杂志》2022年第3期212-217,共6页Chinese Journal of Pathology

基　　金：上海市科学技术委员会项目(18411962900);上海市肺科医院发展基金(学科建设经费)。

摘　　要：目的探讨支气管涎腺乳头状瘤(bronchial sialadenoma papilliferum,BSP)的临床及组织病理学特征、免疫组织化学表型及基因特征。方法通过回顾性阅片筛选,收集同济大学附属上海市肺科医院2018年5月至2021年6月诊断的4例BSP,观察其临床及组织病理学、免疫组织化学及分子病理特点,随访患者并复习相关文献。结果4例BSP均见于男性,年龄55~75岁(平均62岁),肿瘤直径6~21 mm(平均13.5 mm),分别发生于左下叶(2例)、右下叶(1例)及气管(1例)。在病理形态上4例BSP均由外生的覆盖有非角化鳞状化生上皮、柱状上皮的乳头成分及内生的双层导管成分构成。免疫组织化学结果显示细胞角蛋白(CK)7、上皮细胞膜抗原(EMA)在导管上皮中为强阳性,p63、p40、CK5/6在导管及乳头底层细胞中均呈阳性,SOX10在导管上皮和底层细胞中均呈阳性,S-100蛋白在底层细胞中均为阳性,2例导管上皮亦为阳性。运用二代测序技术检测4例BSP中2例携带BRAF V600E突变。结论BSP是一种起源于气管黏膜下涎腺的罕见良性肿瘤,切除后可获得根治。通过其特征性的形态学及免疫组织化学表现可与其他肿瘤相鉴别,分子检测发现其可发生BRAF V600E基因突变。Objective To investigate the clinicopathological,immunophenotypic,and molecular genetic features of bronchial sialadenoma papilliferum(BSP).Methods Four cases of BSP collected at the Shanghai Pulmonary Hospital from May 2018 to June 2021 were retrieved and analyzed.These cases were evaluated for their clinical,histological,immunohistochemical(IHC)and genomic features.The patients were followed up and relevant literature was reviewed.Results All four patients were male,aged from 55 to 75 years(mean 62 years),with tumor diameter of 6 to 21 mm(mean 13.5 mm),and lesions were located in the left lower lobe(n=2),right lower lobe(n=1),and trachea(n=1).They were characterized by a combination of surface exophytic endobronchial papillary proliferation and an endophytic two-cell layered ductal structure.IHC staining showed that CK7 and EMA were strongly positive in ductal epithelium;p63,p40,CK5/6 were positive in ductal and papillary basal cells;SOX10 was positive in ductal epithelium and basal cells;S-100 was positive in basal cells and ductal epithelium in two cases.Next generation sequencing showed that two cases harbored BRAF V600E mutation.Conclusions BSP is an extremely rare primary lung tumor arising from the salivary gland under bronchial mucosa.The primary treatment choice of this tumor is complete surgical resection.The diagnosis and differential diagnosis of this tumor depend on classic histomorphologic and IHC features,and BRAF V600E gene mutation can be detected.

关 键 词：支气管肿瘤 乳头状瘤 涎腺肿瘤 高通量核苷酸测序 

分 类 号：R734.1[医药卫生—肿瘤]