Esophageal carcinoma with ductal differentiation of esophageal gland:clinicopath-ological characteristics and whole exome sequencing analyses
10.13315/j.cnki.cjcep.2025.03.003
- VernacularTitle:伴食管腺导管分化的食管癌临床病理特征与全外显子组测序分析
- Author:
Zhu ZHU
1
;
Xiao HU
;
Zhengyang WANG
;
Jiajing LI
;
Feng WANG
;
Hui QIN
;
Xiangyu JIAN
;
Wencai LI
;
Yihui MA
Author Information
1. 郑州大学第一附属医院生物样本库,郑州 450000
- Publication Type:Journal Article
- Keywords:
esophageal neoplasms;
ductal differentiation of esophageal gland;
whole exome sequencing;
morphology;
immunohistochemistry
- From:
Chinese Journal of Clinical and Experimental Pathology
2025;41(3):291-297
- CountryChina
- Language:Chinese
-
Abstract:
Purpose To summarize the clinical pathological and immunohistochemical characteristics of esophage-al carcinoma with ductal differentiation of esophageal gland,and analyze the somatic mutation characteristics,key driv-ing mutation genes,and significantly mutated genes based on whole exome sequencing.Methods The clinicopatho-logical features of 9 cases of esophageal carcinoma with esophageal duct differentiation were retrospectively analyzed,and the immunohistochemistry EnVision two-step method was used to stain them,and 3 of the samples were subjected to whole exome sequencing and data analysis.Results Among the 9 patients,6 were males and 3 were females.The average age was 68.3 years old(61-80 years old).All 9 cases were located in the middle-lower segment of the e-sophagus.The diameter of the lesion was from 1.5 cm to 3.5 cm.Most areas of the tumor had a double-layer epithelial structure,including the inner layer of luminal epithelium and the outer layer of basal epithelium.Focal areas could be seen with keratinization and mucinous cells.Immunohistochemistry showed that CK7 was positive in the inner epitheli-um,while p63 was positive in the outer basal epithelium.S-100,SOX10 and c-myb were all negative,and p53 was mutated(diffuse strongly positive).The results of whole exome sequencing analysis showed somatic mutation character-istics(796 SNV,37 InDel,482 CNV),key driving mutation genes(12),and significantly mutated genes(TP53).No intraepithelial neoplasia was observed on the surface squamous epithelium of all cases,and no Barrett's esophagus or ectopic gastric mucosa was observed.The average follow-up time was 21.9 months(8 days-51 months),with 8 ca-ses surviving and 1 case dying of severe pulmonary infection 8 days after surgery.Conclusion Esophageal carcinoma with ductal differentiation of esophageal gland is a rare epithelial derived malignant tumor of the esophagus,character-ized by unique morphological,immunohistochemical,and molecular changes.
