Research progress on familial medullary thyroid cancer

Abstract

Familial medullary thyroid carcinoma is a malignant neurosecretory tumor originating from C cells. It is an autosomal dominant disease, belonging to the branch of hereditary thyroid cancer. At present, the academic understanding of FMTC is deeply into the gene level. Studies show that the point mutation of RET gene is the genetic basis of the pathogenesis of FMTC, and can be used for personalized diagnosis and treatment of patients. Clinically, genetic testing, imaging testing, serum Ctn level detection and other methods are usually applied to diagnose suspected cases. At the same time, surgery is the most effective treatment for FMTC, including preventive surgery and therapeutic surgery. This paper reviews the related research results of FMTC from the perspectives of clinical manifestations, genetic mechanisms, and therapeutic approaches, aiming to comprehensively decipher the development process and current status of this field.