Clinicogenomic characterization and targeted therapy efficacy in Chinese patients with NTRK fusion-positive thyroid cancer: a preliminary retrospective cohort study.
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BACKGROUND: Neurotrophic receptor tyrosine kinase (NTRK) fusion-positive thyroid cancer is a rare but highly aggressive malignancy. These tumors exhibit potential responsiveness to TRK-inhibitor therapy; however, real-world clinical data in Chinese populations remain scarce, and clinical management for radioiodine-refractory cases remains incompletely defined. This study aims to characterize the clinicopathological features of Chinese patients and to evaluate the efficacy and safety of the NTRK targeted agent. METHODS: A single-center retrospective analysis was conducted. Sixteen patients were identified from 253 thyroid cancer patients who received next-generation sequencing from January 2022 to March 2025 at our institution. Exclusion criteria included insufficient pathological material and incomplete clinical follow-up records. Baseline clinical, pathological, genomic, and treatment-related variables were retrospectively abstracted from medical records. Follow-up was performed via clinical visits and serial imaging examinations to assess treatment responses and adverse events. RESULTS: The age range of the 16 patients was 6-55 years, and the pathological diagnosis of all tumors was primary papillary carcinoma. Children (n=10) and female patients (n=11) accounted for the majority of the cohort. Distant metastases were present at initial diagnosis in 12 patients, among whom pulmonary metastasis was observed in 11 cases. All 10 patients with NTRK3 fusions harbored the ETV6 fusion partner, whereas common fusion partners for NTRK1-positive tumors included TPM3, IRF2BP2, and SFPQ. Postoperative radioactive iodine (RAI) treatment yielded poor responses, and radioiodine resistance developed frequently. Larotrectinib produced favorable clinical outcomes in patients with RAI-refractory disease and induced tumor cell redifferentiation in one adolescent patient, with no severe adverse reactions. CONCLUSIONS: This disease predominantly affects young Chinese patients and is characterized by strong invasiveness and frequent RAI resistance. Encouraging therapeutic responses were observed in TRK inhibitor-treated subgroup.