ArticleClinical and translational gastroenterology2019
A Novel Approach for the Genetic Analysis of Biliary Tract Cancer Specimens Obtained Through Endoscopic Ultrasound-Guided Fine Needle Aspiration Using Targeted Amplicon Sequencing.
Article in Clinical and translational gastroenterology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 29 citations in OpenAlex.
- Unveiling the molecular profile of adenosquamous gallbladder carcinoma: characterization of a Caucasian cohort.Histopathology · 2026Article
- Endoscopic Ultrasound and Intraductal Ultrasound in the Diagnosis of Biliary Tract Diseases: A Narrative Review.Diagnostics (Basel, Switzerland) · 2024Review
- Article
- Clinical utility of endoscopic ultrasound-guided tissue acquisition for comprehensive genomic profiling of patients with biliary tract cancer, especially with intrahepatic cholangiocarcinoma.Clinical endoscopy · 2024Article
- Endoscopic ultrasound-guided tissue acquisition for comprehensive genomic profiling.Journal of medical ultrasonics (2001) · 2024Review
- Recent Advances in Endoscopic Ultrasound for Gallbladder Disease Diagnosis.Diagnostics (Basel, Switzerland) · 2024Review
- Current status and issues in genomic analysis using EUS-FNA/FNB specimens in hepatobiliary-pancreatic cancers.Journal of gastroenterology · 2023Review
- Immunotherapy as adjuvant therapy for a patient with adenosquamous carcinoma of the intrahepatic bile duct: A case report and literature review.Liver research (Beijing, China) · 2023Article
- Endoscopic Ultrasound-Guided Tissue Acquisition of Pancreaticobiliary Cancer Aiming for a Comprehensive Genome Profile.Diagnostics (Basel, Switzerland) · 2023Review
- Endoscopic Ultrasound in the Diagnosis of Extrahepatic Cholangiocarcinoma: What Do We Know in 2023?Diagnostics (Basel, Switzerland) · 2023Review
- MAP kinase and mammalian target of rapamycin are main pathways of gallbladder carcinogenesis: results from bioinformatic analysis of next generation sequencing data from a hospital-based cohort (NCT05404347).Molecular biology reports · 2022Article
- Promising Genomic Testing for Biliary Tract Cancer Using Endoscopic Ultrasound-Guided Fine-Needle Aspiration/Biopsy Specimens.Diagnostics (Basel, Switzerland) · 2022Review
- The usefulness of endoscopic ultrasound in the diagnosis of gallbladder lesions.Frontiers in medicine · 2022Review
- Reliable Detection of Somatic Mutations for Pancreatic Cancer in Endoscopic Ultrasonography-Guided Fine Needle Aspirates with Next-Generation Sequencing: Implications from a Prospective Cohort Study.Journal of gastrointestinal surgery : official journal of the Society for Surgery of the Alimentary Tract · 2021Article
- The Role of EUS and EUS-FNA in Differentiating Benign and Malignant Gallbladder Lesions.Diagnostics (Basel, Switzerland) · 2021Review
- Evolution and a promising role of EUS-FNA in gene and future analyses.Endoscopic ultrasoundArticle
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectivesBiliary tract cancer (BTC) is an aggressive malignant tumor, and biomarker-based clinical trials for this cancer are currently ongoing. Endoscopic ultrasound-guided fine needle aspiration (EUS-FNA) is a safe procedure and enables pathological diagnoses; however, it is uncertain whether a tiny tumor sample of BTC obtained through EUS-FNA can be analyzed for diverse genetic alterations in the development and tolerance of BTC. Thus, we aimed to verify the feasibility of genetic analyses with EUS-FNA samples of BTC.
methodsTargeted amplicon sequencing using a cancer gene panel with 50 genes was performed with tissue samples of 21 BTC patients obtained through EUS-FNA with a novel rapid on-site process compared with paired peripheral blood samples.
resultsPathogenic gene alterations were successfully identified in 20 out of 21 patients (95.2%) with EUS-FNA specimens of BTC, which included 19 adenocarcinomas and 2 adenosquamous carcinomas. Eighty single nucleotide variants and 8 indels in 39 genes were identified in total, and 28 pathogenic alterations in 14 genes were identified (average, 1.4 alterations per patient). The most common alterations were TP53, KRAS, and CDKN2A in gallbladder carcinoma; TP53, KRAS, PIK3CA, and BRAF in intrahepatic cholangiocarcinoma; and TP53 and SMAD4 in extrahepatic cholangiocarcinoma. Actionable gene alterations (BRAF, NRAS, PIK3CA, and IDH1) were identified in 7 out of 21 patients.
conclusionsA novel approach in genetic analysis using targeted amplicon sequencing with BTC specimens obtained through EUS-FNA was feasible and enabled us to identify genomic alterations.
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