Targeted gene sequencing and bioinformatics analysis of patients with gallbladder neuroendocrine carcinoma:A case report  

作　　者：Yun-Chuan Yang Zhi-Tao Chen Da-Long Wan Hui Tang Mu-Lin Liu 

机构地区：[1]Department of Medical College,Jinan University,Guangzhou 510000,Guangdong Province,China [2]Department of General Surgery,The First Affiliated Hospital of Bengbu Medical University,Bengbu 233000,Anhui Province,China [3]Department of Hepatobiliary Surgery,Shulan(Hangzhou)Hospital Affiliated to Zhejiang Shuren University Shulan International Medical College,Hangzhou 310022,Zhejiang Province,China [4]Department of Hepatobiliary and Pancreatic Surgery,The First Affiliated Hospital,College of Medicine,Zhejiang University,Hangzhou 310003,Zhejiang Province,China [5]Department of Pathology,The First Affiliated Hospital of Medical School of Zhejiang University,Hangzhou 310000,Zhejiang Province,China

出　　处：《World Journal of Gastrointestinal Oncology》2025年第1期239-251,共13页世界胃肠肿瘤学杂志（英文）

基　　金：Supported by School-Level Key Projects at Bengbu Medical College,No.2021byzd109.

摘　　要：BACKGROUND Gallbladder neuroendocrine carcinoma(NEC)represents a subtype of gallbladder malignancies characterized by a low incidence,aggressive nature,and poor prognosis.Despite its clinical severity,the genetic alterations,mechanisms,and signaling pathways underlying gallbladder NEC remain unclear.CASE SUMMARY This case study presents a rare instance of primary gallbladder NEC in a 73-year-old female patient,who underwent a radical cholecystectomy with hepatic hilar lymphadenectomy and resection of liver segments IV-B and V.Targeted gene sequencing and bioinformatics analysis tools,including STRING,GeneMANIA,Metascape,TRRUST,Sangerbox,cBioPortal and GSCA,were used to analyze the biological functions and features of mutated genes in gallbladder NEC.Twelve mutations(APC,ARID2,IFNA6,KEAP1,RB1,SMAD4,TP53,BTK,GATA1,GNAS,and PRDM3)were identified,and the tumor mutation burden was determined to be 9.52 muts/Mb via targeted gene sequencing.A protein-protein interaction network showed significant interactions among the twelve mutated genes.Gene Ontology and Kyoto Encyclopedia of Genes and Genomes analyses were used to assess mutation functions and pathways.The results revealed 40 tumor-related pathways.A key regulatory factor for gallbladder NEC-related genes was identified,and its biological functions and features were compared with those of gallbladder carcinoma.CONCLUSION Gallbladder NEC requires standardized treatment.Comparisons with other gallbladder carcinomas revealed clinical phenotypes,molecular alterations,functional characteristics,and enriched pathways.

关 键 词：Gallbladder neuroendocrine carcinoma Targeted-gene sequencing Bioinformatics analysis case report IMMUNOCYTOCHEMISTRY Case report 

分 类 号：R736[医药卫生—肿瘤]