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Association of Bethesda category and molecular mutation in patients undergoing thyroidectomy
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  • Marco Mascarella,
  • Magdalena Peeva,
  • Veronique-Isabelle Forest,
  • Marc Pusztaszeri,
  • Galit Avior,
  • Michael Tamilia,
  • Alex Mlynarek,
  • Michael Hier,
  • Richard Payne
Marco Mascarella
Research Institute of the McGill University Health Centre
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Magdalena Peeva
McGill University Faculty of Medicine
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Veronique-Isabelle Forest
Jewish General Hospital
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Marc Pusztaszeri
Jewish General Hospital
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Galit Avior
Hillel Yaffe Medical Center
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Michael Tamilia
Jewish General Hospital
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Alex Mlynarek
McGill University
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Michael Hier
McGill University
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Richard Payne
McGill University
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Abstract

Objective: The aim of this study was to ascertain the relationship between Bethesda category and molecular mutation of thyroid nodules in patients undergoing thyroidectomy. Design: A retrospective cohort of patients who underwent thyroidectomy following needle biopsy and molecular profile testing was performed. Setting: Two tertiary care academic hospitals. Participants: Consecutive patients with a dominant thyroid nodule who underwent both USFNA and molecular profile testing followed by thyroidectomy were included in the study. Main Outcome and Measures: The main outcome was postoperative diagnosis of thyroid cancer and aggressivity of disease based on histopathological variants, nodal metastasis or extra-thyroidal extension. Associations between Bethesda category, molecular mutation and postoperative pathology was assessed using descriptive analysis and Chi-square testing. Results: 451 patients were included. 95.9% (93/97) of patients with a BRAFV600E mutation had a Bethesda category V or VI (P<0.001), and all had confirmed thyroid cancer on postoperative pathology. Those with H, K or N RAS or EIF1AX mutations, gene expression profiling (GEP) or copy number alterations showed an association with Bethesda categories III and IV (P≤0.01). Those with no identified molecular mutation had a lower incidence of aggressive thyroid cancer compared to those with an identified mutation (12.6% vs 44.3%, P<0.01). Conclusion: BRAFV600E mutations were associated with thyroid cancer subtypes known to be more aggressive. These findings may help thyroid specialists better identify aggressive thyroid nodules associated with indeterminate Bethesda categories.

Peer review status:IN REVISION

07 Mar 2021Submitted to Clinical Otolaryngology
12 Mar 2021Assigned to Editor
12 Mar 2021Submission Checks Completed
21 Mar 2021Reviewer(s) Assigned
14 May 2021Review(s) Completed, Editorial Evaluation Pending
30 May 2021Editorial Decision: Revise Minor