The Thyroid NGS Fusion Panel is an RNA-based next-generation sequencing panel that detects translocations and fusions with known and novel fusion partners of these genes: ALK, AXL, BRAF, CCND1, FGFR1, FGFR2, FGFR3, GLIS3, MET, NRG1, NTRK1, NTRK2, NTRK3, PAX8, PPARG, RAF1, RET, ROS1, and THADA.
The Thyroid NGS Fusion Panel is intended to detect gene fusions associated with thyroid cancer to aid in diagnosis, disease classification, prognosis, and therapy selection.
The spectrum and prevalence of gene fusions in thyroid cancer ranges from single cases up to 80%, depending on the specific type of cancer. Fusions of tyrosine kinases activating the MAPK pathway, such as RET, BRAF, NTRK1, NTRK2, NTRK3, and ALK, can be found in 6-46% of sporadic papillary thyroid carcinoma (PTC) while PPARG and THADA gene fusions are found dominantly in follicular thyroid carcinoma, follicular adenomas, and follicular variants of PTC. Medullary thyroid carcinoma (MTC) cells harbor RET and ALK gene fusions. While RET mutations are the primary drivers of medullary thyroid carcinoma (MTC), ALK and RET fusions have been reported. For radioactive iodine (RAI)-refractory thyroid cancer, several FDA-approved tyrosine kinase inhibitors have shown efficacy in improving progression-free survival, including sorafenib and lenvatinib for progressive DTC, and vandentanib and cabozantinib for MTC.
- FFPE tissue: Paraffin block is preferred. Alternatively, send 1 H&E slide plus 5-10 unstained slides cut at 5 or more microns. Please use positively-charged slides and 10% NBF fixative. Do not use zinc fixatives.
Use cold pack for transport, making sure cold pack is not in direct contact with specimen.
- Yakushina VD, Lerner LV, Lavrov AV. Gene Fusions in Thyroid Cancer. Thyroid. 2018 Feb;28(2):158-167. doi: 10.1089/thy.2017.0318. PMID: 29281951.