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Updated: Feb 12, 2026
Transoral Robotic Total Thyroidectomy and Bilateral Central Regional Lymph Node Dissection for Papillary Thyroid Carcinoma
Published on: September 15, 2023
Application of genomics to identify therapeutic targets in recurrent pediatric papillary thyroid carcinoma
Rebecca Ronsley1, S Rod Rassekh2,3, Yaoqing Shen4
1Division of Endocrinology and Metabolism, University of British Columbia, Vancouver, British Columbia V6T 1Z4, Canada.
Abstract:
Children with papillary thyroid carcinoma (PTC) may relapse despite response to radioactive iodine (RAI). Two children with multiply relapsed PTC underwent whole-genome and transcriptome sequencing. A TPM3-NTRK1 fusion was identified in one tumor, with outlier NTRK1 expression compared to the TCGA thyroid cancer compendium and to Illumina BodyMap normal thyroid. This patient demonstrated resolution of multiple pulmonary nodules without toxicity on oral TRK inhibitor therapy. A RET fusion was identified in the second tumor, another potentially actionable finding. Identification of oncogenic drivers in recurrent pediatric PTC may facilitate targeted therapy while avoiding repeated RAI.
Insights
Pediatric papillary thyroid carcinoma (PTC) can recur after radioactive iodine (RAI) treatment. Genomic sequencing identified actionable gene fusions in relapsed tumors, enabling targeted therapies and potentially avoiding further RAI.
Area of Science:
- Oncogenomics
- Pediatric Oncology
- Molecular Diagnostics
Background:
- Papillary thyroid carcinoma (PTC) in children can be aggressive, with a risk of recurrence even after radioactive iodine (RAI) therapy.
- Managing multiply relapsed pediatric PTC presents significant clinical challenges.
Observation:
- Whole-genome and transcriptome sequencing were performed on two pediatric PTC patients with multiply relapsed disease.
- One patient's tumor harbored a TPM3-NTRK1 fusion with significantly elevated NTRK1 expression.
- The second patient's tumor showed a RET fusion.
Findings:
- The patient with the TPM3-NTRK1 fusion achieved complete resolution of pulmonary nodules using an oral TRK inhibitor, with no observed toxicity.
- The identification of a RET fusion in the second patient represents another potentially targetable molecular alteration.
Implications:
- Identifying oncogenic drivers in recurrent pediatric PTC is crucial for guiding personalized treatment strategies.
- Targeted therapies, informed by molecular profiling, may offer effective alternatives to repeated RAI, improving outcomes and reducing treatment burden in relapsed pediatric thyroid cancer.
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