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Molecular testing in the diagnosis and management of thyroid malignancy: a feasibility study


 
 
 NHS England’s reorganization of genomic testing has provided an opportunity to explore molecular testing as part of thyroid nodule diagnostics and the routine postoperative histology.
 
 
 
 Routine molecular testing in an NHS service has not previously been explored. This study aims to evaluate whether (1) there is sufficient material to perform this on an FNAC in cytologically indeterminate nodules (2) what the yield is from indeterminate nodules (3) whether post-operative testing is feasible and (4) whether management is altered.
 
 
 
 This in an ongoing feasibility study in a UK tertiary institution commenced in January 2021. Data until May in presented. Two groups are enrolled: those with indeterminate pre-operative cytology and those who have undergone thyroidectomy for malignancy. FNAC samples were sent for a routine panel including BRAFv600e, H-K-NRAS and histology for TP53, RET and NTRK in addition.
 
 
 
 Out of 30 patients with indeterminate cytology, molecular testing was requested in eight. The material was insufficient for added molecular testing in six and the panel of mutations tested was negative in two.
 Thirty-one patients underwent thyroidectomy for malignancy and 11 surgical specimens underwent molecular testing. Mutations were detected in 54.5%(n=6). BRAFv600e mutation was found in four specimens with PTC, whereas NRAS mutation was detected in one Hobnail variant of PTC and one minimal invasive follicular carcinoma.
 
 
 
 Addition of molecular testing to preoperative cytology was shown to require a further FNAC in a majority of cases. In postoperative specimens, molecular testing is feasible but further follow-up is required to determine whether clinical management is altered.
