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Last Posted: Sep 29, 2022
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Evaluation of the Molecular Landscape of Pediatric Thyroid Nodules and Use of a Multigene Genomic Classifier in Children.
Gallant Jean-Nicolas et al. JAMA oncology 2022 6

Are pediatric thyroid nodules amenable to cancer prediction by genomic classification? In this retrospective study of 95 pediatric patients with thyroid nodules, surgical samples underwent next-generation sequencing and genomic classification. Testing defined the unique molecular landscape of pediatric thyroid nodules (which, as opposed to adults, comprised more frequent gene fusions and DICER1 variants) and identified a sensitivity of 96% and specificity of 78% regarding cancer detection.

Development of a Molecular Assay for Detection and Quantification of the BRAF Variation in Residual Tissue From Thyroid Nodule Fine-Needle Aspiration Biopsy Specimens
G Fu et al, JAMA Network Open, October 7,2021

This diagnostic study developed a molecular assay using digital polymerase chain reaction (dPCR) for sensitive detection and absolute quantification of BRAF V600E variation in the residual tissue from routine thyroid FNA biopsies. The dPCR testing showed better sensitivity than immunohistochemical staining and good concordance between residual tissue of FNA biopsies and matched surgical specimens.

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