Evaluation and diagnostic value of next‐generation sequencing analysis of residual liquid‐based cytology specimens of pancreatic masses

Background 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. Methods Upon the diagnosis of a suspected p...

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Veröffentlicht in:Cancer cytopathology 2022-03, Vol.130 (3), p.202-214
Hauptverfasser: Sekita‐Hatakeyama, Yoko, Fujii, Tomomi, Nishikawa, Takeshi, Mitoro, Akira, Sawai, Masayoshi, Itami, Hiroe, Morita, Kouhei, Uchiyama, Tomoko, Takeda, Maiko, Sho, Masayuki, Yoshiji, Hitoshi, Hatakeyama, Kinta, Ohbayashi, Chiho
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container_end_page 214
container_issue 3
container_start_page 202
container_title Cancer cytopathology
container_volume 130
creator Sekita‐Hatakeyama, Yoko
Fujii, Tomomi
Nishikawa, Takeshi
Mitoro, Akira
Sawai, Masayoshi
Itami, Hiroe
Morita, Kouhei
Uchiyama, Tomoko
Takeda, Maiko
Sho, Masayuki
Yoshiji, Hitoshi
Hatakeyama, Kinta
Ohbayashi, Chiho
description Background 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. Methods 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. Results 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. Conclusions 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.
doi_str_mv 10.1002/cncy.22525
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This study evaluated next‐generation sequencing (NGS) analysis of LBC specimens to improve the diagnostic accuracy of pancreatic lesions. Methods 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. Results 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. Conclusions 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.</description><identifier>ISSN: 1934-662X</identifier><identifier>EISSN: 1934-6638</identifier><identifier>DOI: 10.1002/cncy.22525</identifier><identifier>PMID: 34665935</identifier><language>eng</language><publisher>United States: Wiley Subscription Services, Inc</publisher><subject>Biopsy ; Carcinoma, Pancreatic Ductal - diagnosis ; Carcinoma, Pancreatic Ductal - genetics ; Carcinoma, Pancreatic Ductal - surgery ; Cellular biology ; Endoscopic Ultrasound-Guided Fine Needle Aspiration - methods ; High-Throughput Nucleotide Sequencing - methods ; Humans ; liquid‐based cytology ; Mutation ; next‐generation sequencing ; Original ; Pancreatic cancer ; pancreatic ductal carcinoma ; pancreatic lesions ; Pancreatic Neoplasms ; Pancreatic Neoplasms - diagnosis ; Pancreatic Neoplasms - genetics ; Pancreatic Neoplasms - pathology ; Proto-Oncogene Proteins p21(ras) - genetics ; proto‐oncogene proteins p21(ras) ; Retrospective Studies</subject><ispartof>Cancer cytopathology, 2022-03, Vol.130 (3), p.202-214</ispartof><rights>2021 The Authors. published by Wiley Periodicals LLC on behalf of American Cancer Society.</rights><rights>2021 The Authors. Cancer Cytopathology published by Wiley Periodicals LLC on behalf of American Cancer Society.</rights><rights>2021. This article is published under http://creativecommons.org/licenses/by-nc-nd/4.0/ (the “License”). 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This study evaluated next‐generation sequencing (NGS) analysis of LBC specimens to improve the diagnostic accuracy of pancreatic lesions. Methods 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. Results 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. Conclusions 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. 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This study evaluated next‐generation sequencing (NGS) analysis of LBC specimens to improve the diagnostic accuracy of pancreatic lesions. Methods 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. Results 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. Conclusions 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.</abstract><cop>United States</cop><pub>Wiley Subscription Services, Inc</pub><pmid>34665935</pmid><doi>10.1002/cncy.22525</doi><tpages>13</tpages><orcidid>https://orcid.org/0000-0001-7729-1836</orcidid><orcidid>https://orcid.org/0000-0002-8046-9508</orcidid><oa>free_for_read</oa></addata></record>
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subjects Biopsy
Carcinoma, Pancreatic Ductal - diagnosis
Carcinoma, Pancreatic Ductal - genetics
Carcinoma, Pancreatic Ductal - surgery
Cellular biology
Endoscopic Ultrasound-Guided Fine Needle Aspiration - methods
High-Throughput Nucleotide Sequencing - methods
Humans
liquid‐based cytology
Mutation
next‐generation sequencing
Original
Pancreatic cancer
pancreatic ductal carcinoma
pancreatic lesions
Pancreatic Neoplasms
Pancreatic Neoplasms - diagnosis
Pancreatic Neoplasms - genetics
Pancreatic Neoplasms - pathology
Proto-Oncogene Proteins p21(ras) - genetics
proto‐oncogene proteins p21(ras)
Retrospective Studies
title Evaluation and diagnostic value of next‐generation sequencing analysis of residual liquid‐based cytology specimens of pancreatic masses
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