Bi-directional Sanger sequencing is performed using PCR primers designed to target mutations in the promoter region of TERT.
TERT gene promoter mutations lead to constitutive activation and expression. This in turn leads to replication and proliferation of cancer cells. Mutations in the TERT promoter are found in approximately 70% of melanomas, 80–90% of glioblastoma multiforme, 60% of hepatocellular carcinoma, 60% of bladder cancer, 70% of basal cell carcinoma, 50% of cutaneous squamous cell carcinoma and up to 30% of thyroid cancers. In thyroid cancers, TERT promoter mutations are detected in approximately 10% of papillary, 40% of poorly differentiated, and 70% of anaplastic carcinomas. In papillary thyroid carcinomas, the co-presence of mutations in the TERT promoter region and BRAF are associated with significantly more aggressive disease and shorter survival.
Similarly, TERT promoter mutations in melanoma are associated with more aggressive disease, especially when associated with a BRAF mutation.
FFPE solid tumor 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.
Storage and Transportation
Use cold pack for transporting block during summer to prevent block from melting. Slides can be packed at room temperature.