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

IF 3 3区 医学 Q2 GASTROENTEROLOGY & HEPATOLOGY
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
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引用次数: 0

摘要

背景和目的:准确诊断胰腺粘液性囊性病变(mPCNs)仍然是一个临床挑战。本研究探讨了单GNAS ddPCR分析作为一种新方法的实用性,以提高内镜超声引导下细针穿刺(EUS-FNA)对mPCNs的诊断准确性。方法:前瞻性纳入接受EUS-FNA和GNAS胰腺囊肿液(PCF)分析以评估PCL的患者。通过整合越来越多的信息水平:高分辨率成像和非dna PCF特征(1级)、GNAS PCF分析(2级)和手术病理(3级),将囊肿分类为mPCNs、非mPCNs或不确定(i) pcl。结果:纳入140例患者,其中25例行胰腺手术。一级鉴定出68例mPCNs(49%), 24例非mPCNs(17%)和48例ipcl(34%)。在42/68 (62%)mPCNs、1/24(4%)非mPCNs和16/48 (33%)iPCLs中检测到GNAS突变。2级将mPCN检出率提高到62%,ipcl降低了三分之一。突变的GNAS在整个队列中诊断mPCNs的敏感性为66%,在切除病例中为65%,优于影像学和非dna PCF粘液标准,特异性为100%,与CEA、细胞学和液体粘度的一致性有限,突出了其互补诊断价值。iPCLs的成本效益模拟表明,与NGS检测相比,GNAS-ddPCR显著降低了24%的诊断成本。结论:PCF的单一GNAS-ddPCR分析支持62%的病例诊断mPCNs,发现33%的iPCLs为mPCNs,特异性为100%。它增加了标准囊肿液标记物的补充价值,为通过EUS-FNA改善PCL诊断提供了一种简单而经济的工具。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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.

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来源期刊
Clinical and Translational Gastroenterology
Clinical and Translational Gastroenterology GASTROENTEROLOGY & HEPATOLOGY-
CiteScore
7.00
自引率
0.00%
发文量
114
审稿时长
16 weeks
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.
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