Molecular testing in the diagnosis of differentiated thyroid carcinomas

Gland Surgery
Silvia Martina FerrariFulvio Basolo

Abstract

Different genetic mutations and other molecular alterations in papillary thyroid cancer (PTC) and follicular thyroid cancer (FTC) can be detected in fine-needle aspiration (FNA) of thyroid nodules, and can be used successfully to ameliorate cancer diagnosis and management of patients with thyroid nodules. The greatest experience has been obtained with the diagnostic use of BRAF mutation that is strongly specific for malignancy when detected using well-validated techniques. The strongest diagnostic result can be obtained testing FNA samples for a panel of mutations that typically involve TERT, BRAF, PAX8/PPARγ, RAS, and RET/PTC. Finding any of these mutations in a thyroid nodule provides strong indication for malignancy and helps to refine clinical management for a significant proportion of patients with indeterminate cytology. The use of molecular markers, as TERT, BRAF, PAX8/PPARγ, RAS, and RET/PTC, may be considered for patients with indeterminate FNA cytology (FNAC) to help guide management. In patients with indeterminate TIR3 FNA, the combination of precise molecular marker expression analysis with molecular mutations evaluations could ameliorate significantly the accuracy of cancer diagnosis. However other prospective stud...Continue Reading

Citations

Oct 19, 2019·Current Molecular Medicine·Antonio IeniGiovanni Tuccari
May 11, 2019·International Journal of Endocrinology·Jun Jiang, Hui Lu
Aug 21, 2019·Frontiers in Endocrinology·Hye Min Kim, Ja Seung Koo
May 7, 2020·International Journal of Molecular Sciences·Magdalena Rudzińska, Barbara Czarnocka
Nov 8, 2020·Cancers·Hossein TabatabaeianYvonne Tay
Nov 17, 2020·Frontiers in Endocrinology·Zhenyu XieJian Zhang
Jun 23, 2020·Seminars in Cancer Biology·Poupak FallahiAlessandro Antonelli
Jun 13, 2019·Praxis·Thomas M StadlerMartina A Broglie

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