Evaluation and diagnostic value of next‐generation sequencing analysis of residual liquid‐based cytology specimens of pancreatic masses
Autor: | Takeshi Nishikawa, Masayuki Sho, Hiroe Itami, Tomomi Fujii, Hitoshi Yoshiji, Chiho Ohbayashi, Maiko Takeda, Yoko Sekita-Hatakeyama, Tomoko Uchiyama, Akira Mitoro, Kouhei Morita, Kinta Hatakeyama, Masayoshi Sawai |
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Rok vydání: | 2021 |
Předmět: |
Cancer Research
medicine.medical_specialty medicine.disease_cause DNA sequencing Proto-Oncogene Proteins p21(ras) CDKN2A Pancreatic tumor Cytology Pancreatic mass medicine GNAS complex locus Humans Endoscopic Ultrasound-Guided Fine Needle Aspiration neoplasms Retrospective Studies biology business.industry High-Throughput Nucleotide Sequencing medicine.disease digestive system diseases Pancreatic Neoplasms Oncology Liquid-based cytology Mutation biology.protein Radiology KRAS business Carcinoma Pancreatic Ductal |
Zdroj: | Cancer Cytopathology. 130:202-214 |
ISSN: | 1934-6638 1934-662X |
Popis: | 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. |
Databáze: | OpenAIRE |
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