Progress on the characteristics of gene variants in sporadic medullary thyroid cancer

VernacularTitle:散发性甲状腺髓样癌基因变异特点的研究进展
Author: Han ZHANG ; Daqi ZHANG ; Nan LIANG ; Hui SUN
From: Chinese Journal of Endocrine Surgery 2021;15(2):205-207
CountryChina
Language:Chinese
Abstract: Medullary thyroid carcinoma (MTC) is a rare endocrine tumor characterized by high malignancy, early metastasis and easy recurrence. Sporadic medullary thyroid carcinoma (sMTC) is the main pathological type of MTC, accounting for about 75%. Compared with hMTC which has more clear germline mutations in the RET gene, the pathogenesis of sMTC is still unclear. We mainly retrospectively reviewed the characteristics of gene variants and the associations of their gene variants with tumor risk, including RET gene variants, somatic RAS gene variants, CDKN gene variants and other gene variants, aiming to provide novel directions for the evaluation of patients in terms of etiology.