Related Experiment Video
Updated: Aug 15, 2025
04:09
Minimal Invasive Resection of Large Retrosternal Thyroid Goiter
Published on: September 20, 2024
368
Thyroidectomy Outcomes in Patients Identified With RET Pathogenic Variants Through a Population Genomic Screening
Priscilla F A Pichardo1, Ryan N Hellums1, Jing Hao2,3
1Department of Otolaryngology-Head and Neck Surgery, Geisinger Medical Center, Danville, Pennsylvania.
JAMA Otolaryngology-- Head & Neck Surgery
|January 5, 2023
Summary
Population genomic screening identified RET variants, enabling early detection of medullary thyroid carcinoma (MTC). Surgical outcomes were favorable, with no clinically apparent disease at diagnosis, suggesting screening improves patient prognosis.
Area of Science:
- Genomics
- Oncology
- Endocrinology
Background:
- Medullary thyroid carcinoma (MTC) risk is linked to pathogenic/likely pathogenic (P/LP) RET variants.
- Population-based genomic screening offers a novel approach for early MTC detection.
Purpose of the Study:
- To evaluate clinical treatment and patient outcomes following P/LP RET variant identification via population genomic screening.
- To assess the efficacy of early MTC detection and intervention.
Main Methods:
- Retrospective cross-sectional study (June 2016 - May 2022) at a rural tertiary care center.
- Included patients with P/LP RET variants identified through population genomic screening who underwent thyroidectomy.
- Evaluated preoperative findings, surgical extent, pathology, staging, and postoperative surveillance.
Main Results:
- 75 patients identified with P/LP RET variants; 20 underwent total thyroidectomy.
- No patients had clinically apparent MTC pre-surgery; 12 had MTC and 2 papillary thyroid carcinoma on pathology.
- All MTC cases were early-stage (I-III), with no evidence of recalcitrant disease post-surgery.
Conclusions:
- Population genomic screening facilitates the detection of clinically occult MTC.
- Early surgical intervention based on genomic screening shows promising outcomes.
- Genomic screening holds potential for improving MTC patient prognosis.
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