Genomic landscape and comparative analysis of tissue and liquid-based NGS in Taiwanese anaplastic thyroid carcinoma.

ABSTRACT: Anaplastic thyroid carcinoma (ATC) is an aggressive cancer that requirements rapid diagnosis and multimodal treatment. Next-generation sequencing (NGS) aids in personalized therapies and improved trial enrollment. The role of liquid-based NGS in ATC remains unclear. This study analyzed ATC samples using tissue-based NGS, liquid-based NGS, or both platforms. Genetic alterations showed highly heterogeneity, including mutations in RAS/RAF/MEK/ERK, PI3K/AKT/mTOR, cell cycle regulation, other receptor tyrosine kinases, DNA damage response, mismatch repair, and chromatin remodeling. TP53 (65.4%) and BRAF (30.8%) were the most frequently mutated genes in tissue NGS. In paired samples, the concordance rates were 69.2% for TP53 and 84.6% for BRAF. One of two patients treated with dabrafenib and tra

SUBMITTER: Yeh CN 

PROVIDER: S-EPMC11733018 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature