Sporadic medullary thyroid carcinoma: prognostic value of pathological grading and whole exome sequencing analysis
10.3760/cma.j.cn113855-20231008-00220
- VernacularTitle:散发性甲状腺髓样癌病理分级标准的预后评估价值及全外显子测序分析
- Author:
Shanshan SHEN
1
;
Qin YANG
;
Su MENG
;
Yan HOU
;
Lixiong SHUAI
;
Wei XIA
;
Zhifei CAO
;
Yongsheng ZHANG
Author Information
1. 江苏省苏州市苏州大学附属第二医院病理科，苏州 215004
- Keywords:
Thyroid neoplasms;
Exons;
Carcinoma, medullary;
Prognosis
- From:
Chinese Journal of General Surgery
2024;39(8):593-597
- CountryChina
- Language:Chinese
-
Abstract:
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 ( χ2=4.428, P=0.040); less likely to be cured by biochemical treatment ( χ2=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.
