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

Chang Deng; Shan Li; Zhixin Yang; Yi Dou; Daixing Hu; Jiang Zhu; Denghui Wang; Xinliang Su

doi:10.21037/gs-20-589

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

Gland Surg. 2021 Jan;10(1):242-251. doi: 10.21037/gs-20-589.

Authors

Chang Deng¹, Shan Li², Zhixin Yang¹, Yi Dou¹, Daixing Hu¹, Jiang Zhu¹, Denghui Wang¹, Xinliang Su¹

Affiliations

¹ Department of Endocrine and Breast Surgery, the First Affiliated Hospital of Chongqing Medical University, Chongqing, China.
² Department of Gastroenterology, the First Affiliated Hospital of Chongqing Medical University, Chongqing, China.

Abstract

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

Methods: 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.

Results: 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.

Conclusions: 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.

Keywords: Papillary thyroid carcinoma (PTC); gene mutation; multi-gene assay.