Evaluation and diagnostic value of next-generation sequencing analysis of residual liquid-based cytology specimens of pancreatic masses.
Evaluation and diagnostic value of next-generation sequencing analysis of residual liquid-based cytology specimens of pancreatic masses.
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DOI：
10.1002/cncy.22525
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发表时间：
2022-03
影响因子：
3.4
通讯作者：
中科院分区：
文献类型：
--
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液基细胞学（LBC）是一种广泛用于处理内镜活检获得的标本的方法。本研究评价了LBC标本的下一代测序（NGS）分析，以提高胰腺病变的诊断准确性。在诊断为疑似胰腺肿块后，回顾性使用LBC残留物。评价了从残留LBC样品中提取的DNA的数量和质量，并进行了靶向6个基因（KRAS、GNAS、TP53、CDKN 2A、SMAD 4和PIK3CA）的NGS分析。从52例LBC标本中制备文库：44例制备成功，8例制备失败。对DNA数量和质量的分析表明，NGS实施的成败取决于这两个属性。结合手术切除或活检材料的病理学分析和临床资料，最终诊断。在33例胰腺导管腺癌（PDAC）中，分别在31例（94%）、16例（48%）、3例（9%）和2例（6%）中发现KRAS、TP53、CDKN 2A和SMAD 4突变。在11例良性病例中，仅在1例病例中确定了KRAS突变。根据NGS结果，33例PDAC中有18例（55%）被归类为高度异型增生或以上，11例良性病变中有10例被评估为非恶性，这与最终诊断一致。使用提取了适当数量和质量的DNA的LBC标本进行NGS分析，有助于改善胰腺肿瘤恶性肿瘤的评估和分子靶向药物的应用。本文介绍了使用下一代测序（NGS）检测试剂盒检测具有足够数量和质量的DNA的液基细胞学（LBC）标本的可行性。使用LBC通过NGS检测癌症相关突变证明了其对恶性肿瘤评估的价值。
Liquid‐based cytology (LBC) is a widely used method for processing specimens obtained by endoscopic biopsy. This study evaluated next‐generation sequencing (NGS) analysis of LBC specimens to improve the diagnostic accuracy of pancreatic lesions. Upon the diagnosis of a suspected pancreatic mass, LBC residues were used retrospectively. The quantity and quality of DNA extracted from residual LBC samples were evaluated, and an NGS analysis targeting 6 genes (KRAS, GNAS, TP53, CDKN2A, SMAD4, and PIK3CA) was performed. The library was prepared from LBC specimens taken from 52 cases: 44 were successful, and 8 preparations failed. An analysis of DNA quantity and quality suggested that the success or failure of NGS implementation depended on both properties. The final diagnosis was achieved by a combination of the pathological analysis of the surgical excision or biopsy material with clinical information. Among the 33 cases of pancreatic ductal adenocarcinoma (PDAC), KRAS, TP53, CDKN2A, and SMAD4 mutations were identified in 31 (94%), 16 (48%), 3 (9%), and 2 (6%), respectively. Among the 11 benign cases, only a KRAS mutation was identified in 1 case. On the basis of NGS results, 18 of 33 PDACs (55%) were classified as highly dysplastic or more, and 10 of 11 benign lesions were evaluated as nonmalignant, which was consistent with the final diagnosis. NGS analysis using LBC specimens from which DNA of appropriate quantity and quality has been extracted could contribute to improving the assessment of pancreatic tumor malignancies and the application of molecular‐targeted drugs. This article presents the feasibility of using a next‐generation sequencing (NGS) assay for liquid‐based cytology (LBC) specimens with DNA of sufficient quantity and quality. The detection of cancer‐related mutations by NGS using LBC demonstrates its value for the evaluation of malignancy.
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影响因子：
3.6
作者：
Bournet B;Muscari F;Buscail C;Assenat E;Barthet M;Hammel P;Selves J;Guimbaud R;Cordelier P;Buscail L
通讯作者：
Buscail L
影响因子：
3.4
作者：
Reynolds, Jordan P.;Zhou, Yaolin;Cheng, Yu-Wei
通讯作者：
Cheng, Yu-Wei
影响因子：
5.3
作者：
Hashimoto, Shinichi;Taguchi, Hiroki;Ido, Akio
通讯作者：
Ido, Akio
影响因子：
64.8
作者：
Biankin, Andrew V.;Waddell, Nicola;Kassahn, Karin S.;Gingras, Marie-Claude;Muthuswamy, Lakshmi B.;Johns, Amber L.;Miller, David K.;Wilson, Peter J.;Patch, Ann-Marie;Wu, Jianmin;Chang, David K.;Cowley, Mark J.;Gardiner, Brooke B.;Song, Sarah;Harliwong, Ivon;Idrisoglu, Senel;Nourse, Craig;Nourbakhsh, Ehsan;Manning, Suzanne;Wani, Shivangi;Gongora, Milena;Pajic, Marina;Scarlett, Christopher J.;Gill, Anthony J.;Pinho, Andreia V.;Rooman, Ilse;Anderson, Matthew;Holmes, Oliver;Leonard, Conrad;Taylor, Darrin;Wood, Scott;Xu, Qinying;Nones, Katia;Fink, J. Lynn;Christ, Angelika;Bruxner, Tim;Cloonan, Nicole;Kolle, Gabriel;Newell, Felicity;Pinese, Mark;Mead, R. Scott;Humphris, Jeremy L.;Kaplan, Warren;Jones, Marc D.;Colvin, Emily K.;Nagrial, Adnan M.;Humphrey, Emily S.;Chou, Angela;Chin, Venessa T.;Chantrill, Lorraine A.;Mawson, Amanda;Samra, Jaswinder S.;Kench, James G.;Lovell, Jessica A.;Daly, Roger J.;Merrett, Neil D.;Toon, Christopher;Epari, Krishna;Nguyen, Nam Q.;Barbour, Andrew;Zeps, Nikolajs;Kakkar, Nipun;Zhao, Fengmei;Wu, Yuan Qing;Wang, Min;Muzny, Donna M.;Fisher, William E.;Brunicardi, F. Charles;Hodges, Sally E.;Reid, Jeffrey G.;Drummond, Jennifer;Chang, Kyle;Han, Yi;Lewis, Lora R.;Dinh, Huyen;Buhay, Christian J.;Beck, Timothy;Timms, Lee;Sam, Michelle;Begley, Kimberly;Brown, Andrew;Pai, Deepa;Panchal, Ami;Buchner, Nicholas;De Borja, Richard;Denroche, Robert E.;Yung, Christina K.;Serra, Stefano;Onetto, Nicole;Mukhopadhyay, Debabrata;Tsao, Ming-Sound;Shaw, Patricia A.;Petersen, Gloria M.;Gallinger, Steven;Hruban, Ralph H.;Maitra, Anirban;Iacobuzio-Donahue, Christine A.;Schulick, Richard D.;Wolfgang, Christopher L.;Morgan, Richard A.;Lawlor, Rita T.;Capelli, Paola;Corbo, Vincenzo;Scardoni, Maria;Tortora, Giampaolo;Tempero, Margaret A.;Mann, Karen M.;Jenkins, Nancy A.;Perez-Mancera, Pedro A.;Adams, David J.;Largaespada, David A.;Wessels, Lodewyk F. A.;Rust, Alistair G.;Stein, Lincoln D.;Tuveson, David A.;Copeland, Neal G.;Musgrove, Elizabeth A.;Scarpa, Aldo;Eshleman, James R.;Hudson, Thomas J.;Sutherland, Robert L.;Wheeler, David A.;Pearson, John V.;McPherson, John D.;Gibbs, Richard A.;Grimmond, Sean M.
通讯作者：
Grimmond, Sean M.
影响因子：
2.9
作者：
Kameta E;Sugimori K;Kaneko T;Ishii T;Miwa H;Sato T;Ishii Y;Sue S;Sasaki T;Yamashita Y;Shibata W;Matsumoto N;Maeda S
通讯作者：
Maeda S