文献检索文档翻译深度研究
Suppr Zotero 插件Zotero 插件
邀请有礼套餐&价格历史记录

新学期，新优惠

限时优惠:9月1日-9月22日

30天高级会员仅需29元

1天体验卡首发特惠仅需5.99元

了解详情
不再提醒
插件&应用
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
高级版
套餐订阅购买积分包
AI 工具
文献检索文档翻译深度研究
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2025

胰腺囊液与肿瘤组织的基因组特征一致性。

Genomic profile concordance between pancreatic cyst fluid and neoplastic tissue.

机构信息

Department of Gastroenterology, Saint Joseph Hospital, Marseille 13008, France.

Aix-Marseille Univ, INSERM, MMG, Marseille 13385, France.

出版信息

World J Gastroenterol. 2019 Sep 28;25(36):5530-5542. doi: 10.3748/wjg.v25.i36.5530.

DOI:10.3748/wjg.v25.i36.5530
PMID:31576098
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6767987/
Abstract

BACKGROUND: DNA mutational analysis of pancreatic cystic fluid (CF) is a useful adjunct to the evaluation of pancreatic cysts. KRAS/GNAS or RAF/PTPRD/CTNNB1/RNF43 mutations are highly specific to precancerous or advanced neoplasia. Several studies recently demonstrated the ability of next-generation sequencing (NGS) analysis to detect DNA mutations in pancreatic CF, but few studies have performed a systematic comparative analysis between pancreatic CF and neoplastic surgical tissue (NT). The value of CF-NGS analysis indicators for determining surgical resection necessitates evaluation. AIM: To confirm whether CF genomic profiles are a reliable malignancy predictor by comparing NGS mutational analyses of CF and NT. METHODS: Patients requiring surgery for high-risk pancreatic cysts were included in a multicenter prospective pilot study. DNA from CF (collected by endoscopic ultrasound-guided fine needle aspiration (known as EUS-FNA)) and NT (collected by surgery) were analyzed by NGS. The primary objective was to compare the mutation profiles of paired DNA samples. The secondary objective was to correlate the presence of specific mutations (KRAS/GNAS, RAF/ PTPRD/CTNNB1/RNF43/POLD1/TP53) with a final cancer diagnosis. Sensitivity and specificity were also evaluated. RESULTS: Between December 2016 and October 2017, 20 patients were included in this pilot study. Surgery was delayed for 3 patients. Concordant CF-NT genotypes were found in 15/17 paired DNA, with a higher proportion of mutated alleles in CF than in NT. NGS was possible for all pancreatic CF collected by EUS-FNA. In 2 cases, the presence of a KRAS/GNAS mutation was discordant between CF and NT. No mutations were found in 3 patients with NT or pancreatic cysts with high-grade dysplasia. The sensitivity and specificity of KRAS/GNAS mutations in CF to predict an appropriate indication for surgical resection were 0.78 and 0.62, respectively. The sensitivity and specificity of RAF/PTPRD/CTNNB1 /RNF43/POLD1/TP53 mutations in CF were 0.55 and 1.0, respectively. CONCLUSION: Mutational analyses of CF and NT were highly concordant, confirming the value of NGS analysis of CF in the preoperative malignancy assessment. However, these results need to be confirmed on a larger scale.

摘要

背景：胰腺囊性液（CF）的 DNA 突变分析是评估胰腺囊肿的有用辅助手段。KRAS/GNAS 或 RAF/PTPRD/CTNNB1/RNF43 突变高度特异于癌前或高级肿瘤。最近有几项研究表明，下一代测序（NGS）分析能够检测胰腺 CF 中的 DNA 突变，但很少有研究对胰腺 CF 和肿瘤手术组织（NT）之间进行系统的比较分析。需要评估 CF-NGS 分析指标对确定手术切除的价值。

目的：通过比较 CF 和 NT 的 NGS 突变分析，确认 CF 基因组图谱是否是恶性肿瘤的可靠预测指标。

方法：本多中心前瞻性试点研究纳入了因高危胰腺囊肿而需要手术的患者。通过内镜超声引导下细针抽吸（EUS-FNA）收集 CF 及手术收集的 NT 的 DNA，进行 NGS 分析。主要目的是比较配对 DNA 样本的突变谱。次要目的是将特定突变（KRAS/GNAS、 RAF/ PTPRD/CTNNB1/RNF43/POLD1/TP53）的存在与最终癌症诊断相关联。还评估了敏感性和特异性。

结果：2016 年 12 月至 2017 年 10 月期间，本试点研究纳入了 20 例患者。其中 3 例患者手术推迟。15/17 对配对 DNA 中发现 CF-NT 基因型一致，CF 中突变等位基因的比例高于 NT。所有通过 EUS-FNA 收集的胰腺 CF 均可进行 NGS 分析。在 2 例中，CF 和 NT 之间的 KRAS/GNAS 突变存在不一致。在 3 例 NT 或高级别异型增生的胰腺囊肿患者中未发现突变。CF 中 KRAS/GNAS 突变预测手术切除指征的敏感性和特异性分别为 0.78 和 0.62。CF 中 RAF/PTPRD/CTNNB1/RNF43/POLD1/TP53 突变的敏感性和特异性分别为 0.55 和 1.0。

结论：CF 和 NT 的突变分析高度一致，证实了 CF 的 NGS 分析在术前恶性肿瘤评估中的价值。然而，这些结果需要在更大的范围内得到证实。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b627/6767987/54d1d59091e0/WJG-25-5530-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b627/6767987/7d90ce320a44/WJG-25-5530-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b627/6767987/54d1d59091e0/WJG-25-5530-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b627/6767987/7d90ce320a44/WJG-25-5530-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b627/6767987/54d1d59091e0/WJG-25-5530-g002.jpg

相似文献

[1]
Genomic profile concordance between pancreatic cyst fluid and neoplastic tissue.

World J Gastroenterol. 2019-9-28

[2]
Preoperative next-generation sequencing of pancreatic cyst fluid is highly accurate in cyst classification and detection of advanced neoplasia.

Gut. 2017-9-28

[3]
KRAS/GNAS-testing by highly sensitive deep targeted next generation sequencing improves the endoscopic ultrasound-guided workup of suspected mucinous neoplasms of the pancreas.

Genes Chromosomes Cancer. 2021-7

[4]
Clinical Impact of KRAS and GNAS Analysis Added to CEA and Cytology in Pancreatic Cystic Fluid Obtained by EUS-FNA.

Dig Dis Sci. 2018-5-24

[5]
Impact of next-generation sequencing on the clinical diagnosis of pancreatic cysts.

Gastrointest Endosc. 2015-8-5

[6]
Next-generation sequencing of residual cytologic fixative preserved DNA from pancreatic lesions: A pilot study.

Cancer Cytopathol. 2020-11

[7]
Activation of the RAS pathway through uncommon BRAF mutations in mucinous pancreatic cysts without KRAS mutation.

Mod Pathol. 2021-2

[8]
Next generation sequencing of the cellular and liquid fraction of pancreatic cyst fluid supports discrimination of IPMN from pseudocysts and reveals cases with multiple mutated driver clones: First findings from the prospective ZYSTEUS biomarker study.

Genes Chromosomes Cancer. 2018-10-17

[9]
Value of adding GNAS testing to pancreatic cyst fluid KRAS and carcinoembryonic antigen analysis for the diagnosis of intraductal papillary mucinous neoplasms.

Dig Endosc. 2016-10-4

[10]
Preoperative GNAS and KRAS testing in the diagnosis of pancreatic mucinous cysts.

Clin Cancer Res. 2014-6-17

引用本文的文献

[1]
Clinical Perspectives on the Histomolecular Features of the Pancreatic Precursor Lesions: A Narrative Review.

Middle East J Dig Dis. 2024-7

[2]
Welcoming the new, revisiting the old: a brief glance at cytopathology reporting systems for lung, pancreas, and thyroid.

J Pathol Transl Med. 2024-7

[3]
Molecular Analysis of Pancreatic Cyst Fluid for the Management of Intraductal Papillary Mucinous Neoplasms.

Diagnostics (Basel). 2022-10-24

[4]
Evaluating Pancreatic and Biliary Neoplasms with Small Biopsy-Based Next Generation Sequencing (NGS): Doing More with Less.

Cancers (Basel). 2022-1-13

[5]
Management of pancreatic cysts and guidelines: what the gastroenterologist needs to know.

Ther Adv Gastrointest Endosc. 2021-9-23

[6]
Diagnostic Concordance of Cytology and Histology in Samples Obtained via Endoscopic Ultrasound-Guided Fine-Needle Biopsy (EUS-FNB).

Cureus. 2021-6-11

[7]
Diagnostic value of SpyGlass for pancreatic cystic lesions: comparison of EUS-guided fine-needle aspiration and EUS-guided fine-needle aspiration combined with SpyGlass.

Surg Endosc. 2022-2

本文引用的文献

[1]
Interobserver agreement of computed tomography reporting standards for chronic pancreatitis.

Abdom Radiol (NY). 2019-7

[2]
ACG Clinical Guideline: Diagnosis and Management of Pancreatic Cysts.

Am J Gastroenterol. 2018-2-27

[3]
Preoperative next-generation sequencing of pancreatic cyst fluid is highly accurate in cyst classification and detection of advanced neoplasia.

Gut. 2017-9-28

[4]
Revisions of international consensus Fukuoka guidelines for the management of IPMN of the pancreas.

Pancreatology. 2017-7-13

[5]
The Sendai and Fukuoka consensus criteria for the management of branch duct IPMN - A meta-analysis on their accuracy.

Pancreatology. 2017

[6]
Low progression of intraductal papillary mucinous neoplasms with worrisome features and high-risk stigmata undergoing non-operative management: a mid-term follow-up analysis.

Gut. 2016-1-7

[7]
Qualimap 2: advanced multi-sample quality control for high-throughput sequencing data.

Bioinformatics. 2016-1-15

[8]
A combination of molecular markers and clinical features improve the classification of pancreatic cysts.

Gastroenterology. 2015-11

[9]
American gastroenterological association institute guideline on the diagnosis and management of asymptomatic neoplastic pancreatic cysts.

Gastroenterology. 2015-4

[10]
From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline.

Curr Protoc Bioinformatics. 2013

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

推荐工具

医学文档翻译智能文献检索