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PancreaSeq Genomic Classifier (PancreaSeq GC) Improves Pancreatic Cyst Classification and Detection of Advanced Neoplasia: A Multi-institutional Validation Study

delete2025-12-12
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OA
AI
A
Aatur D. Singhi
A
Abigail I. Wald
K
Katelyn Smith
L
Lynn Wolkenstein
R
Robert Bubar
R
Ricardo Díaz‐Aragon
M
Maria Grupillo
D
Danielle Guckin
Y
Yi-Tak Lai
R
Randall E. Brand
K
Kevin McGrath
W
Walter G. Park
P
Patrick Pfau
P
Patricio M. Polanco
N
Nisa Kubiliun
J
John DeWitt
J
Jeffrey J. Easler
A
Aamir Dam
S
Shaffer Mok
M
Michael B. Wallace
B
Brian A. Boone
W
Wallis Marsh
K
Kimberly Fairley
E
Elham Afghani
Y
Yasser M. Bhat
S
Sanjay Ramrakhiani
J
John Nasr
N
Nikhil R. Thiruvengadam
A
Asif Khalid
K
Kenneth Fasanella
J
Jennifer Chennat
R
Rohit Das
H
Harkirat Singh
A
Adam Slivka
C
Charles Gabbert
T
Tarek Sawas
T
Thomas Tielleman
H
Hendrikus Dutch Vanderveldt
A
Anna Tavakkoli
L
Lynette M. Smith
A
Anju H. Singhi
S
S. Singhi
S
Stephanie Romutis
S
Sultan Mahmood
A
Amy Hosmer
J
Julia McNabb‐Baltar
A
Anne Marie Lennon
R
Ralph H. Hruban
N
Nuha Shaker
A
Alessandro Paniccia
A
Amer H. Zureikat
K
Kenneth K. Lee
M
Melanie Ongchin
H
Herbert J. Zeh
R
Rebecca M. Minter
C
C. Max Schmidt
J
Jin He
M
Marina N. Nikiforova
DOI:10.1245/s10434-025-18848-8delete
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摘要

摘要

En 中文
胰腺囊性病变的术前分类及高级别异型增生/胰腺导管腺癌(PDAC)的检测构成了重大的诊断挑战。一项前瞻性、多中心研究显示,基于DNA的检测(PancreaSeq)对胰腺囊液(PCF)的检测可改善胰腺囊性病变的评估。PancreaSeq的明显局限性促使开发了一种DNA/RNA联合检测的方案,即PancreaSeq基因组分类器(GC)。我们对PancreaSeq GC在队列前瞻性患者中进行了验证。PancreaSeq GC在241例具有诊断随访的前瞻性队列中进行了盲法测试。在包含186例黏液性囊性病变(其中97例为高级别异型增生)的队列中,将PancreaSeq GC的性能与常规诊断方法及其仅基于DNA的前身PancreaSeq进行了基准比较。PancreaSeq GC对黏液性囊性病变的敏感度为94.6%,特异度为96.4%(曲线下面积[AUC]为0.955)。相比之下,囊液黏度增加、癌胚抗原(CEA)升高及PancreaSeq检测的敏感度较低(71.4%~88.2%)且AUC较低(0.824~0.941);然而,PancreaSeq的特异度为100%。McNemar检验证实,与PancreaSeq相比,PancreaSeq GC对黏液性囊性病变的敏感度更高(p < 0.001)。对于高级别异型增生,PancreaSeq GC的敏感度为86.6%,特异度为97.9%(AUC为0.923),McNemar检验证实其敏感度较PancreaSeq有所提升(p = 0.031)。可疑特征、恶性细胞病理学和高风险标志物的敏感度较低(44.3%~84.5%)且AUC较低(0.604~0.892),而PancreaSeq的特异度与PancreaSeq GC相同。PancreaSeq GC在分类导管内嗜酸细胞乳头状瘤(IOPNs)、导管内管状乳头状瘤(ITPNs)和囊性胰腺神经内分泌肿瘤(cPanNETs)方面具有高准确度,其敏感度为97.1%~100%,特异度为100%。这项验证研究显示,PancreaSeq GC在黏液性囊性病变和高级别异型增生的检测方面实现了统计学显著提升,确立了其在胰腺囊性病变术前评估中的临床价值。
Keyword:
Intraductal papillary mucinous neoplasm
Mucinous cystic neoplasm
Intraductal oncocytic papillary neoplasm
Serous cystadenoma
Pseudocyst
Pancreatic neuroendocrine tumor
Pancreatic ductal adenocarcinoma
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Annals of Surgical Oncology 封面图
Annals of Surgical Oncology
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3.5
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被引数:
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引用论文

引用论文

Targeted next-generation sequencing of cancer genes dissects the molecular profiles of intraductal papillary neoplasms of the pancreas癌症基因的靶向下一代测序剖析胰腺导管内乳头状肿瘤的分子谱
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Genetic Analysis of Small Well-differentiated Pancreatic Neuroendocrine Tumors Identifies Subgroups With Differing Risks of Liver Metastases
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Serous cystic neoplasm of the pancreas: a multinational study of 2622 patients under the auspices of the International Association of Pancreatology and European Pancreatic Club (European Study Group on Cystic Tumors of the Pancreas)
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