Multi-gene assay and clinical characteristics research in papillary thyroid carcinoma

To investigate the significance of multi-gene assay in papillary thyroid carcinoma (PTC) patients in clinical practice.

From April to December 2019, medical records of 68 patients with PTC after the initial surgery were retrospectively collected and analyzed in terms of the relations between gene mutations and clinicopathological characteristics.

RET/PTC rearrangement was not detected in BRAF V600E mutation patients (P<0.001). Besides, compared with wild-type patients, BRAF V600E mutation was associated with significantly older age (P=0.001) and a higher rate of extrathyroid invasion (P=0.023). Significantly higher BRAF V600E mutation rates were found in clinical lymph node-negative (P=0.041) and non-metastatic lateral lymph nodes (P=0.027) patients as RET/PTC rearrangement was associated with younger age (P=0.001) and the increasing metastatic number of lymph nodes (P=0.020). Compared to other gene mutations, the multivariate analysis showed that larger tumor size [odds ratio (OR), 8.831; 95% CI: 1.971-35.578; P=0.004], the BRAF V600E mutation alone(OR, 10.567; 95% CI: 1.748-63.873; P=0.010) or in combination with one additional gene mutation (OR, 8.654; 95% CI: 1.453-68.603; P=0.041), and Hashimoto's thyroiditis (OR, 0.112; 95% CI: 0.025-0.499; P=0.004) were all independent predictors for the prevalence of ETE.

BRAF V600E mutation was associated with older age and the aggressiveness of PTC but was independent of lymph node metastasis (LNM). RET/PTC rearrangement suggested more LNM in young patients with PTC. BRAF V600E mutation combined with other gene mutations, namely, multi-gene mutations, could indicate a higher aggressiveness in PTC.