摘要
目的探讨双层型与部分单层型细支气管腺瘤(BA)的临床病理及分子特征。方法选取5例双层型BA和部分单层型BA的手术切除标本,采用免疫组织化学检测TTF1,CK5/6,p63,p40,CK7和NapsinA表达,基于二代测序(NGS)检测基因突变情况。结果双层型BA镜下显示双层细胞结构与连续的基底细胞层,部分单层型BA显示部分基底细胞缺失,双层结构和单层结构移行过渡。双层细胞结构的基底细胞和腔面细胞共表达TTF1,基底细胞表达CK5/6,p63和p40。NGS检测显示部分单层型BA中有1例EGFR 19号外显子缺失和1例KRAS G13C突变。双层型BA中有1例KRAS G12C和BRAF V600E突变。患者术后随访8~67个月,无复发转移。结论BA,尤其部分单层型BA是一种易与腺癌混淆的罕见肺部肿瘤,组织形态学与分子遗传学联合检测及分析对鉴别病变性质十分重要,避免误诊及漏诊。
Objective To investigate the clinicopathological and molecular features of partial monolayered and bilayered bronchiolar adenoma(BA).Methods Surgical specimens of 5 partial monolayered cases and 5 bilayered cases were collected.The clinicopathological features were analyzed,and the expression of TTF1,CK5/6,p63,p40,CK7,and NapsinA were detected by immunohistochemistry.Gene mutations were tested by next generation sequencing(NGS).Results The bilayered cell structure and continuous basal cell layer were observed in bilayered cases.Partial monolayered BA showed partial basal cell loss and transition of bilayered structure and single-layered structure.The basal cells expressed CK5/6,p63,and p40,and TTF1 expressed in both basal cells and luminal cells.NGS showed one case of EGFR exon 19 deletion and one case of KRAS G13C mutation in 5 partial monolayered BAs.There was one case of KRAS G12C mutation and one case of BRAF V600E mutation in 5 bilayered BAs.All patients were followed up for 8 to 67 months,and no recurrence or metastasis occurred.Conclusion BA,especially partial monolayered BA,is a rare lung tumor that is easily confused with adenocarcinoma,and the comprehensive analysis of histomorphology and molecular genetics is crucial for distinguishing the nature of the lesion and avoiding misdiagnosis and missed diagnosis.
作者
马怡歆
董宫铭
李昕瑜
张冠军
李璐瑶
MA Yixin;DONG Gongming;LI Xinyu;ZHANG Guanjuan;LI Luyao(Department of Pathology,the First Affiliated Hospital of Xi'an Jiaotong University,Xi'an 710061,China;Health Science Center of Xi'an Jiaotong University,Xi'an 710061,China)
出处
《诊断病理学杂志》
2025年第7期822-828,共7页
Chinese Journal of Diagnostic Pathology
基金
陕西省自然科学基础研究计划项目(编号2021JQ-392)。
关键词
细支气管腺瘤
组织病理学
免疫表型
二代测序
突变
Bronchiolar adenoma
Histopathology
Immunophenotype
Next generation sequencing
Mutations
