关键词: 甲状腺乳头状癌, 二代测序, 突变频率, 临床病理特征, 基因变异

Abstract: Objective To analyze the genomic alterations of papillary thyroid carcinoma(PTC) by nextgeneration sequencing(NGS),and to explore the relationship between mutation frequency and clinicopathological features. Methods  The tissue samples and clinical data from 34 PTC patients were collected in our hospital from May 2015 to May 2021.The 70 gene sequencing instrument was used for the detection of gene variations.Then we analyzed the relationship between BRAF mutation frequency and clinicopathological characteristics. Results  A total of 5 genes and 7 variant sites were identified in 34 PTC patients,among which BRAF V600E was the most common(80.77%).BRAF V600E and NCOA4-RET were present in both primary and recurrent lesions.BRAF mutation frequency ranged from 1.14% to 34.24% in the primary focus,subjects with high-frequency mutation(> 15%) mostly were a single larger tumor(>2 cm),but ones with low-frequency mutation(≤15%) was multiple smaller lesions(≤2 cm). Conclusion NGS is helpful to reveal the multigenic variation of PTC.BRAF mutation frequency,may contribute to diverse clinical biological features.

Key words: papillary thyroid cancer, next-generation sequencing, mutation frequency, clinicopathological features, genomic alterations