TY - JOUR
T1 - Genomic Profiling of Aggressive Thyroid Cancer in Association with its Clinicopathological Characteristics
AU - Kim, Jae Hui
AU - Jeong, Ji Yun
AU - Seo, An Na
AU - Park, Nora Jee Young
AU - Kim, Moonsik
AU - Park, Ji Young
N1 - Publisher Copyright:
© 2022 International Institute of Anticancer Research. All rights reserved.
PY - 2022/2
Y1 - 2022/2
N2 - 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.
AB - 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.
KW - Advanced differentiated thyroid cancer
KW - Aggressive thyroid cancer
KW - Anaplastic thyroid carcinoma
KW - Next-generation sequencing
KW - Poorly differentiated thyroid carcinoma
KW - Whole exome sequencing
UR - http://www.scopus.com/inward/record.url?scp=85123037203&partnerID=8YFLogxK
U2 - 10.21873/invivo.12682
DO - 10.21873/invivo.12682
M3 - Article
C2 - 34972706
AN - SCOPUS:85123037203
SN - 0258-851X
VL - 36
SP - 111
EP - 120
JO - In Vivo
JF - In Vivo
IS - 1
ER -
