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

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World Journal of Gastrointestinal Oncology 2025年第1期17卷 239-251页

作者： Yun-Chuan Yang Zhi-Tao Chen Da-Long Wan Hui Tang Mu-Lin Liu Department of Medical College Jinan UniversityGuangzhou 510000Guangdong ProvinceChina Department of general Surgery The First Affiliated Hospital of Bengbu Medical UniversityBengbu 233000Anhui ProvinceChina Department of Hepatobiliary Surgery Shulan(Hangzhou)Hospital Affiliated to Zhejiang Shuren University Shulan International Medical CollegeHangzhou 310022Zhejiang ProvinceChina Department of Hepatobiliary and Pancreatic Surgery The First Affiliated HospitalCollege of MedicineZhejiang UniversityHangzhou 310003Zhejiang ProvinceChina Department of Pathology The First Affiliated Hospital of Medical School of Zhejiang UniversityHangzhou 310000Zhejiang ProvinceChina

BACKGROUND Gallbladder neuroendocrine carcinoma(NEC)represents a subtype of gallbladder malignancies characterized by a low incidence,aggressive nature,and poor *** its clinical severity,the genetic alterations,mechanisms,and signaling pathways underlying gallbladder NEC remain *** 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 *** 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 *** 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 *** Ontology and Kyoto Encyclopedia of genes and Genomes analyses were used to assess mutation functions and *** 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 *** Gallbladder NEC requires standardized *** 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

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