| Description |
Papillary thyroid carcinoma (PTC) is one of the most common malignancies of the endocrine system with varying levels of risk and clinical behavior. A better understanding of the molecular characteristics could improve molecular diagnosis and risk assessment. In this study, we performed whole transcriptomic sequencing of 113 cases, covering 70 high-risk and 43 low-risk Chinese patients. Comparative transcriptional profiling analysis unveiled two functionally distinct patterns of dysregulated genes in the two risk subtypes. Low-risk patients showed significant upregulation of immune-related genes and increased immune cell infiltration, whereas high-risk PTCs presented significantly altered genes and increased activation of oncogenic signaling pathways. Furthermore, a 31-gene transcriptomics-based signature (PTCrisk) was generated for the differential diagnosis of high-risk and low-risk PTCs in the discovery cohort, and validated in multicenter in-house and external cohorts. PTCrisk scores also showed positive correlations with key clinicopathological features, including tumor diameter, lymph node metastasis rates, TNM stage and BRAF mutation status. Overall, our study provides further molecular insights into patient risk stratification and can further advance the personalized treatments for PTC. |
