Genomic Profiling of Aggressive Thyroid Cancer in Association With its Clinicopathological Characteristics

초록

Background/Aim: Poorly differentiated thyroid carcinoma (PDTC), anaplastic thyroid carcinoma (ATC), and advanced DTC have poor outcomes. Materials and Methods: We performed next-generation sequencing in nine selected aggressive thyroid cancers. Results: Among the nine patients, the driver gene mutations BRAF V600E (3/9) and NRAS Q61K (1/9) were detected. Other oncogenic mutations included ERBB2 (1/9) and CDK4 (1/9). Telomerase reverse transcriptase (TERT) promoter mutation was found in five cases. Among tumor suppressor genes, mutations in TP53 (3/9), ARID1A (1/9), APC (1/9), MEN1 (1/9), DICER1 (1/9), and MED12 (1/9) were identified. RET fusions were found in two cases, one with PTDC and the other with ATC. The ATC with RET fusion also harbored TP53 and TERT promoter mutations. None of the PDTC cases had BRAF or RAS gene alterations. Conclusion: Since genetic alterations with therapeutic and prognostic implications were detected using next-generation sequencing, this technique is recommended to be performed for patients with aggressive thyroid cancer.

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