唾液腺细胞学中的下一代测序检测：一项初步研究。

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

机构信息

Department of Pathology and Molecular Diagnostics, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.

Department of Otorhinolaryngology, Head and Neck Surgery, Nagoya City University, Graduate School of Medical Sciences, Nagoya, Japan.

出版信息

J Oral Pathol Med. 2020 Nov;49(10):1037-1043. doi: 10.1111/jop.13109. Epub 2020 Sep 30.

DOI:10.1111/jop.13109

PMID:32941702

Abstract

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.

摘要

背景

通过细针抽吸（FNA）细胞学对唾液腺肿瘤（SGT）进行术前诊断具有挑战性。基于下一代测序（NGS）的体细胞突变检测具有很大的优势，因为可以同时分析大量基因。尽管 NGS 在细胞学中可能具有巨大的诊断潜力，但据我们所知，NGS 在 SGT 细胞学中的意义仍需阐明。

方法

在这项初步研究中，我们回顾性检查了 32 例手术中获得的冷冻 SGT 样本（14 例恶性和 18 例良性）。在储存的冷冻肿瘤组织解冻后，使用 22 号针获得抽吸样本，并进行涂片肿瘤样本和用于 NGS 检测的 DNA 提取，使用的是 Illumina AmpliSeq 癌症热点面板 v2。将结果与术前细胞学诊断相关联。

结果

FNA 细胞学获得的术前诊断包括 23 例阴性病变（6 例无恶性和 17 例良性肿瘤）和 9 例阳性病变（4 例疑似恶性和 5 例恶性），敏感性和特异性分别为 9/14（64%）和 18/18（100%）。NGS 检测在 10/14 例恶性和 1/18 例良性 SGT 病例中检测到体细胞突变，敏感性和特异性分别为 71%和 94%。