Genetic mutation characteristics of iodine-refractory papillary thyroid carcinoma
10.13315/j.cnki.cjcep.2025.01.007
- VernacularTitle:碘难治性甲状腺乳头状癌的基因突变特征
- Author:
Beibei JIANG
1
;
Yiqiang YIN
;
Ruijing LIU
;
Wen LIU
;
Jingli XUE
;
Min LI
;
Peifeng LI
Author Information
1. 锦州医科大学解放军第九六〇医院研究生培养基地,济南 250031;济南市第四人民医院病理科,济南 250031
- Publication Type:Journal Article
- Keywords:
thyroid neoplasm;
radioactive iodine therapy;
gene mutation;
TERT promoter mutation;
BRAF mutation
- From:
Chinese Journal of Clinical and Experimental Pathology
2025;41(1):37-43
- CountryChina
- Language:Chinese
-
Abstract:
Purpose To investigate the genetic mutation characteristics and its correlation with clinicopathologic characteristics of radioactive iodine-refractory papillary thyroid cancer(RAIR-PTC).Methods PTC gene mutation detection kit was constructed based on the characteristics of PTC gene mutation.37 cases of RAIR-PTC tumor samples and 36 cases of radioiodine-avid thyroid papillary carcinoma tumor samples were detected by multiple PCR sequencing.The mutation of PTC tumor samples was identified by bioinformatics analysis,and the correlation between gene muta-tions and clinicopathological characteristics of patients was statistically analyzed.Results BRAF,TERT,TP53,AKT1 and NRAS gene mutations were detected in RAIR-PTC tumor samples,with BRAF V600E and TERT promoter mutation rates of 70.3％and 24.3％,respectively.Gene mutation of RAIR-PTC often manifested as the accumulation of multiple gene mutations,with co-mutations of BRAF or RAS and TERT promoter being the most common,and these co-mutations were significantly associated with patients'progression-free survival of PTC.Conclusion The accumula-tion of gene mutation can promote the occurrence of RAIR-PTC.TERT promoter mutation is a late event of PTC.TERT promoter mutation and co-mutations of BRAF or RAS and TERT promoter can help to evaluate the possibility of iodine refractory in PTC patients,in whom the therapeutic effect of radioactive iodine should be closely monitored and the ac-curate and effective treatment should be took as soon as possible.
