Araujo Ik, Soy G, Ginès A, Sendino O, Fernández-Esparrach G, Sánchez-Montes C, Cuatrecasas M, Archilla I, Montironi C, Silvia Alós, Ausania F, Domínguez-Fraile M, Villagrasa V, López-Guerra M, Colomer D, Vaquero Ec
{"title":"基于单个GNAS液滴的胰腺囊肿液数字PCR分析:EUS-FNA诊断粘液囊肿的有效前期策略","authors":"Araujo Ik, Soy G, Ginès A, Sendino O, Fernández-Esparrach G, Sánchez-Montes C, Cuatrecasas M, Archilla I, Montironi C, Silvia Alós, Ausania F, Domínguez-Fraile M, Villagrasa V, López-Guerra M, Colomer D, Vaquero Ec","doi":"10.14309/ctg.0000000000000887","DOIUrl":null,"url":null,"abstract":"<p><strong>Background and aims: </strong>Accurate diagnosis of mucinous pancreatic cystic lesions (mPCNs) remains a clinical challenge. This study investigated the utility of single GNAS ddPCR analysis as a novel approach to refine the diagnostic accuracy of mPCNs using endoscopic ultrasound-guided fine-needle aspiration (EUS-FNA).</p><p><strong>Methods: </strong>Patients who underwent EUS-FNA and GNAS pancreatic cyst fluid (PCF) analyses for PCL assessment were prospectively enrolled. Cysts were categorized as mPCNs, non-mPCNs, or inconclusive (i)PCLs by integrating increasing information levels: high-resolution imaging and non-DNA PCF features (level 1), GNAS PCF analysis (level 2) and surgical pathology (level 3).</p><p><strong>Results: </strong>140 patients were included, 25 of whom underwent pancreatic surgery. Level 1 identified 68 mPCNs (49%), 24 non-mPCNs (17%), and 48 iPCLs (34%). GNAS mutations were detected in 42/68 (62%) mPCNs, 1/24 (4%) non-mPCNs, and 16/48 (33%) iPCLs. Level 2 increased mPCN detection to 62% and reduced iPCLs by one-third. Mutated GNAS showed 66% sensitivity for diagnosing mPCNs in the whole cohort and 65% in resected cases, outperforming both imaging and non-DNA PCF mucinous criteria, with 100% specificity and limited concordance with CEA, cytology, and fluid viscosity, highlighting its complementary diagnostic value. Cost-effectiveness simulations for iPCLs demonstrated that GNAS-ddPCR significantly reduced diagnostic costs by 24% compared to NGS testing.</p><p><strong>Conclusion: </strong>Single GNAS-ddPCR analysis in PCF supported mPCNs diagnosis in 62% of cases and uncovered 33% of iPCLs as mPCNs with 100% specificity. It adds complementary value to standard cyst fluid markers offering a simple and cost-effective tool for improving PCL diagnosis via EUS-FNA.</p>","PeriodicalId":10278,"journal":{"name":"Clinical and Translational Gastroenterology","volume":" ","pages":""},"PeriodicalIF":3.0000,"publicationDate":"2025-07-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Single GNAS droplet-based digital PCR analysis of pancreatic cyst fluid: An effective up-front strategy for mucinous cyst diagnosis by EUS-FNA.\",\"authors\":\"Araujo Ik, Soy G, Ginès A, Sendino O, Fernández-Esparrach G, Sánchez-Montes C, Cuatrecasas M, Archilla I, Montironi C, Silvia Alós, Ausania F, Domínguez-Fraile M, Villagrasa V, López-Guerra M, Colomer D, Vaquero Ec\",\"doi\":\"10.14309/ctg.0000000000000887\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background and aims: </strong>Accurate diagnosis of mucinous pancreatic cystic lesions (mPCNs) remains a clinical challenge. This study investigated the utility of single GNAS ddPCR analysis as a novel approach to refine the diagnostic accuracy of mPCNs using endoscopic ultrasound-guided fine-needle aspiration (EUS-FNA).</p><p><strong>Methods: </strong>Patients who underwent EUS-FNA and GNAS pancreatic cyst fluid (PCF) analyses for PCL assessment were prospectively enrolled. Cysts were categorized as mPCNs, non-mPCNs, or inconclusive (i)PCLs by integrating increasing information levels: high-resolution imaging and non-DNA PCF features (level 1), GNAS PCF analysis (level 2) and surgical pathology (level 3).</p><p><strong>Results: </strong>140 patients were included, 25 of whom underwent pancreatic surgery. Level 1 identified 68 mPCNs (49%), 24 non-mPCNs (17%), and 48 iPCLs (34%). GNAS mutations were detected in 42/68 (62%) mPCNs, 1/24 (4%) non-mPCNs, and 16/48 (33%) iPCLs. Level 2 increased mPCN detection to 62% and reduced iPCLs by one-third. Mutated GNAS showed 66% sensitivity for diagnosing mPCNs in the whole cohort and 65% in resected cases, outperforming both imaging and non-DNA PCF mucinous criteria, with 100% specificity and limited concordance with CEA, cytology, and fluid viscosity, highlighting its complementary diagnostic value. Cost-effectiveness simulations for iPCLs demonstrated that GNAS-ddPCR significantly reduced diagnostic costs by 24% compared to NGS testing.</p><p><strong>Conclusion: </strong>Single GNAS-ddPCR analysis in PCF supported mPCNs diagnosis in 62% of cases and uncovered 33% of iPCLs as mPCNs with 100% specificity. It adds complementary value to standard cyst fluid markers offering a simple and cost-effective tool for improving PCL diagnosis via EUS-FNA.</p>\",\"PeriodicalId\":10278,\"journal\":{\"name\":\"Clinical and Translational Gastroenterology\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":3.0000,\"publicationDate\":\"2025-07-07\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Clinical and Translational Gastroenterology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.14309/ctg.0000000000000887\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"GASTROENTEROLOGY & HEPATOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinical and Translational Gastroenterology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.14309/ctg.0000000000000887","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"GASTROENTEROLOGY & HEPATOLOGY","Score":null,"Total":0}
Single GNAS droplet-based digital PCR analysis of pancreatic cyst fluid: An effective up-front strategy for mucinous cyst diagnosis by EUS-FNA.
Background and aims: Accurate diagnosis of mucinous pancreatic cystic lesions (mPCNs) remains a clinical challenge. This study investigated the utility of single GNAS ddPCR analysis as a novel approach to refine the diagnostic accuracy of mPCNs using endoscopic ultrasound-guided fine-needle aspiration (EUS-FNA).
Methods: Patients who underwent EUS-FNA and GNAS pancreatic cyst fluid (PCF) analyses for PCL assessment were prospectively enrolled. Cysts were categorized as mPCNs, non-mPCNs, or inconclusive (i)PCLs by integrating increasing information levels: high-resolution imaging and non-DNA PCF features (level 1), GNAS PCF analysis (level 2) and surgical pathology (level 3).
Results: 140 patients were included, 25 of whom underwent pancreatic surgery. Level 1 identified 68 mPCNs (49%), 24 non-mPCNs (17%), and 48 iPCLs (34%). GNAS mutations were detected in 42/68 (62%) mPCNs, 1/24 (4%) non-mPCNs, and 16/48 (33%) iPCLs. Level 2 increased mPCN detection to 62% and reduced iPCLs by one-third. Mutated GNAS showed 66% sensitivity for diagnosing mPCNs in the whole cohort and 65% in resected cases, outperforming both imaging and non-DNA PCF mucinous criteria, with 100% specificity and limited concordance with CEA, cytology, and fluid viscosity, highlighting its complementary diagnostic value. Cost-effectiveness simulations for iPCLs demonstrated that GNAS-ddPCR significantly reduced diagnostic costs by 24% compared to NGS testing.
Conclusion: Single GNAS-ddPCR analysis in PCF supported mPCNs diagnosis in 62% of cases and uncovered 33% of iPCLs as mPCNs with 100% specificity. It adds complementary value to standard cyst fluid markers offering a simple and cost-effective tool for improving PCL diagnosis via EUS-FNA.
期刊介绍:
Clinical and Translational Gastroenterology (CTG), published on behalf of the American College of Gastroenterology (ACG), is a peer-reviewed open access online journal dedicated to innovative clinical work in the field of gastroenterology and hepatology. CTG hopes to fulfill an unmet need for clinicians and scientists by welcoming novel cohort studies, early-phase clinical trials, qualitative and quantitative epidemiologic research, hypothesis-generating research, studies of novel mechanisms and methodologies including public health interventions, and integration of approaches across organs and disciplines. CTG also welcomes hypothesis-generating small studies, methods papers, and translational research with clear applications to human physiology or disease.
Colon and small bowel
Endoscopy and novel diagnostics
Esophagus
Functional GI disorders
Immunology of the GI tract
Microbiology of the GI tract
Inflammatory bowel disease
Pancreas and biliary tract
Liver
Pathology
Pediatrics
Preventative medicine
Nutrition/obesity
Stomach.