Next‐generation sequencing assay in salivary gland cytology: A pilot study

• Published in: Journal of oral pathology & medicine Vol. 49; no. 10; pp. 1037 - 1043
• Main Authors: Yamamoto, Shuhei, Sakamoto, Yuma, Nakano, Satsuki, Fujii, Keiichiro, Ueda, Kaori, Okumura, Yoshihide, Tsuda, Kana, Masaki, Ayako, Kawakita, Daisuke, Murase, Takayuki, Inagaki, Hiroshi
• Format: Journal Article
• Language: English
• Published: Denmark Wiley Subscription Services, Inc 01.11.2020
• Subjects: Cellular biology; Cytology; Diagnosis; High-Throughput Nucleotide Sequencing; Malignancy; Mutation; next‐generation sequencing; Oral cancer; Pilot Projects; Retrospective Studies; Salivary gland; salivary gland tumors; Salivary Glands; Sensitivity and Specificity; Surgery; Tumors; next-generation sequencing; salivary gland tumors
• DOI: 10.1111/jop.13109
• ISSN: 0904-2512; 1600-0714

Background Preoperative diagnosis of salivary gland tumors (SGTs) by fine‐needle aspiration (FNA) cytology is challenging. Next‐generation sequencing (NGS)‐based assays for somatic mutations have a great advantage in that a large number of genes can be analyzed simultaneously. Although NGS may have an enormous diagnostic potential in cytology, to our knowledge, the significance of NGS in SGT cytology remains to be clarified. Methods In this pilot study, we retrospectively examined 32 frozen SGT samples obtained at surgery (14 malignant and 18 benign). After the stored frozen tumor tissues were thawed, aspirate samples were obtained using 22‐gauge needles and subjected to smear tumor samples and to DNA extraction for an NGS assay employing the Illumina AmpliSeq Cancer Hotspot Panel v2. The results were correlated to preoperative cytological diagnosis. Results The preoperative diagnoses obtained by FNA cytology included 23 negative lesions (no malignancy in 6 and benign tumor in 17) and nine positive lesions (suspicious for malignancy in 4 and malignancy in five), providing a sensitivity and a specificity of 9/14 (64%) and 18/18 (100%), respectively. The NGS assay detected somatic mutations in 10/14 malignant and 1/18 benign SGT cases, providing a sensitivity and a specificity of 71% and 94%, respectively. Conclusion The NGS assay may be helpful for detecting the malignant potential in SGT cases and can be used as an ancillary test for SGT cytology.