Research status of combined gene mutations in anaplastic thyroid cancer
10.3760/cma.j.cn311282-20220413-00224
- VernacularTitle:甲状腺未分化癌基因联合突变的研究现状
- Author:
Xueqi ZHANG
1
;
Fan ZHANG
;
Weiping TENG
Author Information
1. 中国医科大学附属第一医院内分泌与代谢病科，内分泌研究所；卫生健康委员会（共建）甲状腺疾病诊治重点实验室，沈阳 110001
- Keywords:
Anaplastic thyroid cancer;
Genes;
Pathogenesis
- From:
Chinese Journal of Endocrinology and Metabolism
2023;39(2):176-180
- CountryChina
- Language:Chinese
-
Abstract:
Anaplastic thyroid cancer (ATC) is the most malignant thyroid cancer with a low incidence but high mortality. ATC is highly aggressive, rapidly progressing, and has poor prognosis. Current treatment options is not efficacious, so there is an urgent need to investigate its pathogenesis to update the treatment and improve the survival rate. Previous studies have found that most ATC can develop from well-differentiated thyroid cancer, and BRAF and RAS mutations are the key driving factors of ATC. TP53, PI3K pathway, PTEN, TERT, SWI/SNF complex Subunit, NF2 and other mutations also play an important role in the occurrence of ATC. Recent studies have found that single gene mutation is often not sufficient to drive the occurrence of ATC, and ATC is usually developed from the accumulation of multiple mutations in well-differentiated thyroid cancer. Therefore, this paper reviews the role of common combined mutations in ATC, deepens the understanding of the pathogenesis, and provides a basis for finding effective therapeutic targets.
