Abstract:Abstract:?Objectives?To explore the application of next-generation sequencing (NGS) based detection for a panel of 15 target genes mutations and analyzed the gene spectrum in papillary thyroid carcinoma (PTC).?Methods?A total of 188 FFPE (formalin-fixed, paraffin-embedded) tissue specimens from surgically removed PTC samples were detected with 15 target genes by NGS. Gatk 4.0.2.0, varscan V2.3.9 and Factera 1.4.4 software were used to analyze the characteristics of gene variation.?Results?The gene mutations of NGS were detected in 80.32% of all samples(151/188). One point mutation or gene fusion mutation were carried in single gene of 74.47% (140/188) samples, two point mutations were simultaneously harboured in 5.32%(10/188)samples and triple different gene point mutations were carried in 0.53%(1/188)sample. A total of 163 point mutations and gene fusion mutations were detected in 151 mutation samples. The?BRAF?mutation was the most common mutation type in PTC patients. For the samples carried two mutations, the allelic frequency of mutations was similar. However, for the samples harboured three different gene mutations, the allelic frequency of?NRAS?mutation was similar to?TERT?mutation but?TP53?mutation showed much lower abundance. There was no correlation between gene mutation and gender (χ2=0.585,P>0.05), age (χ2=0.575,P>0.05) and clinical stages (χ2=0.711,P>0.05) in PTC patients.?Conclusion?NGS-based detection method may comprehensively detect the mutations in PTC related genes, and provide the basis for diagnosis, prognosis and individualized treatment of patients.