Technologies

Invention Novelty:

This invention discloses the coexistence of BRAF V600E and TERT C228T mutations as novel molecular marker that defines the most aggressive subgroup of certain cancers (papillary thyroid cancer (PTC), melanoma, colon cancer, lung cancer brain tumors, etc.) that harbor BRAF and TERT promoter mutations.

Value Proposition:

Currently, the best preoperative tool for thyroid cancer is the cytological examination of fine needle aspiration (FNA) biopsies from thyroid nodules. Unfortunately, FNA cytology lacks specificity and in up to 40% of cases, the diagnosis of thyroid nodules remains indeterminate. The vast majority of patients who get this indeterminate answer end up having at least part of their thyroid gland removed. Clearly, what is needed is a biomarker for thyroid cancer that is dependable enough so that no cutting has to happen to make the determination.

Technical Details:

Johns Hopkins researchers describes a retrospective study of 507 PTC patients who were treated with total thyroidectomy and clinically followed from 1990 to 2012 for the purpose of understanding the relationship between clinicopathological characteristics with BRAF V600E mutation and TERT C228T promoter mutation. Biological samples from the patients were assayed to identified the presence of mutations corresponding to BRAF V600E and TERT C228T which is then used to identified the patient as having or likely to develop aggressive thyroid cancer if both mutations are present.

Categories: Diagnostics

Keywords: TERT promoter mutations, thyroid cancer, BRAF V600E mutation, telomerase reverse transcriptase, recurrence