Clinical Investigations
Clinical significance of telomerase reverse transcriptase promoter mutation in radioactive iodine refractory papillary thyroid cancer
Wang Tingting, Cai Gangming, Pan Yi, Guo Heming, Li Sicheng, Ma Qi, Yang Zhixue, Xu Longjiang, Hu Ji, Fang Chen
Published 2022-02-25
Cite as Chin J Nucl Med Mol Imaging, 2022, 42(2): 90-95. DOI: 10.3760/cma.j.cn321828-20210427-00137
Abstract
ObjectiveTo evaluate the influence of telomerase reverse transcriptase (TERT) promoter mutation on radioiodine uptake status of radioactive iodine refractory papillary thyroid cancer (RAIR-PTC) and radioiodine therapy response by analyzing the mutation frequency of TERT promoter in RAIR-PTC.
MethodsA total of 37 patients with RAIR-PTC (15 males, 22 females, age (49.8±16.1) years) and 40 PTC patients with effective radioiodine therapy (13 males, 27 females, age (39.8±10.9) years) between January 2005 and June 2020 in JiangYuan Hospital Affiliated to Jiangsu Institute of Nuclear Medicine were retrospectively analyzed. TERT promoter mutation and B-Raf proto-oncogene, serine/threonine kinase (BRAF)V600E mutation of patients were observed. The differences across genotype patterns on radioiodine uptake status and therapy response were compared. The Fisher′s exact test and independent-sample t test were used for data analysis.
ResultsThe incidence rate of TERT promoter mutation in the RAIR-PTC group was 40.54% (15/37, all C228T), which was significantly higher than that in the effective radioiodine therapy group (0, 0/40; P<0.001). No statistically significant difference was found for the mutation rate of BRAFV600E between the RAIR group (64.86%, 24/37) and the effective radioiodine therapy group (72.50%, 29/40; P=0.858). Patients with TERT promoter mutation were older (t=3.76, P=0.001) and the non-intake rate of radioiodine in distant metastases of those patients was higher (P=0.037). Furthermore, 2/3 of patients who received targeted therapies and 3/4 deaths had TERT promoter mutation. Among 35 patients with negative thyroglobulin antibody (TgAb), 11/14 of patients with TERT mutation had a rising stimulated thyroglobulin (sTg), while the percentage of the non-TERT mutation group was 57.1% (12/21; P=0.357).
ConclusionThe TERT promoter mutation rate is significantly increased in RAIR-PTC patients and can serve as a prognostic predictor in RAIR.
Key words:
Thyroid neoplasms; Carcinoma, papillary; Mutation; Transcription initiation site; Telomerase; Proto-oncogene proteins B-raf; Brachytherapy; Iodine radioisotopes
Contributor Information
Wang Tingting
Department of Endocrinology, JiangYuan Hospital Affiliated to Jiangsu Institute of Nuclear Medicine, Wuxi 214063, China
Cai Gangming
Gene Laboratory, JiangYuan Hospital Affiliated to Jiangsu Institute of Nuclear Medicine, Wuxi 214063, China
Pan Yi
Department of Endocrinology, JiangYuan Hospital Affiliated to Jiangsu Institute of Nuclear Medicine, Wuxi 214063, China
Guo Heming
Department of Endocrinology, the Second Affiliated of Soochow University, Suzhou 215002, China
Li Sicheng
Department of Endocrinology, the Second Affiliated of Soochow University, Suzhou 215002, China
Ma Qi
Department of Ultrasound, the Second Affiliated of Soochow University, Suzhou 215002, China
Yang Zhixue
Department of Thyroid and Breast Surgery, the Second Affiliated of Soochow University, Suzhou 215002, China
Xu Longjiang
Department of Pathology, the Second Affiliated of Soochow University, Suzhou 215002, China
Hu Ji
Department of Endocrinology, the Second Affiliated of Soochow University, Suzhou 215002, China
Fang Chen
Department of Endocrinology, the Second Affiliated of Soochow University, Suzhou 215002, China