Advances in studies of the genes related to thyroid carcinoma

Abstract

Thyroid carcinoma (TC) is the most common endocrine cancer and its incidence has been increasing globally over the past decades. With the development of the genetic technology, more and more evidences showed that many genes affect the biological behaviors of TC, making sense to early diagnosis, predicting the prognosis and targeted therapy for TC. BRAF mutation is specific to papillary thyroid carcinoma (PTC). It can not only predict the prognosis, but also have diagnosis value. RET rearrangements are identified as a specific genetic event in PTC. Though the preoperative detection of RET/PTC rearrangements has not proven useful in choosing the appropriate surgical management, new medications which are capable of inhibiting RET protein kinase activity may help to therapy the PTCs. RET mutation has specific meaning for detecting familial medullar thyroid carcinoma. Though RAS mutation can be discovered in follicular thyroid carcinoma (FTC), follicular variant of papillary thyroid carcinoma (FvPTC), poorly differentiated thyroid carcinoma (PDTC) and undifferentiated thyroid carcinoma (UTC), the relationship between RAS mutation and prognosis remains controversial. P53 can be detected in more invasive variants of PTC, PDTC and UTC. P53 can be used as a prognosis-predictor. Rescuing the function of mutant p53 (mutp53) protein is an attractive anticancer therapeutic strategy. 30%-35% FTC and 37.5% FvPTC have PAX8-PPARγ rearrangement, which can distinguish carcinomas from adenomas in follicular neoplasms of the thyroid. Pioglitazone may have therapeutic efficacy in patients with PPFP-positive TCs. FTC and PTC have TERT promoter mutation, usually predicting poor prognosis. Other genes also influence on the biological behavior of TC, having diagnosis value and prognostic significance. Though the gene study about TC develops rapidly, many problems remain unclear. Further studies on TC-related genes are needed.