Objective To explore the clinicopathological and genetic characteristics of sporadic medullary thyroid carcinoma(MTC)and new therapeutic targets for sporadic MTC.Methods Based on family and personal disease history,we identified 32 sporadic MTC who underwent surgical resection from Jan 2010 to Dec 2022.Clinicopathological and immunohistochemical features were analyzed in all patients,while 6 of them were subject to the whole exome sequencing(WES).Results Compared with those of low-grade sporadic MTC,patients with high-grade tumors were more likely to have lymph node metastasis at presentation(x2=4.428,P=0.040);less likely to be cured by biochemical treatment(x2=4.072,P=0.044).Pathological grading scheme,biochemical cure,and TNM stage were independent risk factors of disease free survival.WES was performed on 6 pairs of normal tissues.We screened RET and RAS as driver mutations,and the mutation ratio was 3/6 respectively.Patients with RET or RAS mutations had no recurrence.In addition,we detected PDGFRA somatic mutation,with a mutation ratio of 1/6.Conclusions For sporadic MTC cases,the pathological grading system has important prognostic value,and RET and RAS somatic mutations are the main driver mutations.PDGFRA are potential therapeutic targets for sporadic MTC.
维普
万方数据