Next-Generation sequencing genomic landscape of Chinese thyroid tumors

Abstract Objective: Clinical practice can benefit greatly from the use of next-generation sequencing to identify gene alterations in thyroid cancer. Our study aimed to clarify the thyroid cancer’s gene alterations of Chinese. Methods: We retrospectively collected next-generation sequencing (NGS) data and clinicopathological features of 2844 cases of thyroid samples. The association between gene alterations and clinicopathological features were analyzed. Results: BRAF (71%), RAS (4%), TERT (3%), TP53 (1.4%), RET (2.2%), RET/PTC (3.3%), and other gene alterations were detected. For Fine-needle autopsy samples, combined with cytology and NGS, the sensitivity of diagnosis was significantly increased from 0.76 to 0.91, while the specificity was significantly decreased, which temporarily failed to explain the authenticity of the diagnostic experiment. BRAF mutation-positive PTC patients have lower recurrence rate, vascular invasion and tumor size, higher age and tumor multiformity. TERT mutation-positive patients have higher age, recurrence rate, tumor size, tumor invasiveness, and TNM stage, indicating a poor prognosis. And the frequency of TERT Prompter co-mutation with BRAF or RAS is high. Conclusions: We provide a large-scale NGS landscape to detect the genomic alteration of Chinese thyroid tumors. A total of 2844 cases with effective gene detection reports were counted. The common gene mutation types are BRAF (71%), RAS (4%), TERT (3%), TP53 (1.4%), RET (2.2%), RET/PTC (3.3%). BRAF mutation is an excellent molecular change for assisting in the diagnosis of PTC and no clear correlation between BRAF V600E and the prognosis of PTC patients. TERT promoter mutation may be a late molecular event of the tumor, promoting the malignant transformation of the tumor together with the early molecular event of the induced tumor.