内科理论与实践2023，Vol.18Issue(4)：266-269,4.DOI:10.16138/j.1673-6087.2023.04.011
甲状腺结节良恶性的分子分型研究
Molecular study of benign and malignant thyroid nodules
摘要
Abstract
Objective To establish a next-generation sequencing panel for the molecular diagnosis of thyroid nodules.Methods The panel,named ThyNod Panel,was designed to detect single nucleotide variant(SNV),indel,fusion,copy number variant(CNV)and RNA expression levels in 112 thyroid nodules associated genes,including benign and malig-nant molecular markers,thyroid differentiation or function genes and cell identity marker genes.Results The ThyNod Panel was successfully constructed and applied,and 856 benign or malignant thyroid nodules were completed sequencing.Totally 676(79.0%)thyroid nodules were detected mutations.In 627 thyroid nodules with definite pathological diagnosis,17.6%were benign nodules and 82.4%were malignant ones,in which malignant pathological types included classical papillary carcinoma,follicular variant papillary carcinoma,and medullary carcinoma.The most common mutant genes de-tected were BRAF(n=426),followed by RET(n=68),RET/PTC fusion(n=68),DICER1(n=35),telomerase reverse tran-scriptase(TERT)(n=35),HRAS(n=24),NRAS(n=23),neurotrophin receptor kinase(NTRK3)fusion(n=19),and eukary-otic translation initiation factor 1A,X-chromosomal(EIF1AX)(n=11).The malignant percentage was counted for the de-tected mutations,and the malignant related variants such as BRAF V600E and RET fusion were higher than 90.0%,while the overall malignant percentage of RAS-like variants was only 18.9%.Conclusions ThyNod Panel can efficiently identify genetic characteristics in thyroid nodules and be applied in the molecular diagnosis of thyroid nodules.关键词
甲状腺结节/甲状腺结节Panel/靶向测序/融合变异Key words
Thyroid nodules/ThyNod Panel/Target sequencing/Fusion分类
医药卫生引用本文复制引用
李浩榕,韩如来,郁丹燕,叶蕾..甲状腺结节良恶性的分子分型研究[J].内科理论与实践,2023,18(4):266-269,4.基金项目
国家自然科学基金项目(项目编号:92059106、82141115) （项目编号:92059106、82141115）
