Novel Thyroid Cancer Diagnostic and Prognostic Biomarker
JHU REF: C12422
Invention novelty: This technology detects somatic mutations that occur at high frequency in papillary, follicular and anaplastic thyroid cancers.
Value Proposition:
Papillary and follicular thyroid carcinomas account for 80-90% of thyroid cancers, and anaplastic thyroid cancer accounts for 1-2% of all thyroid cancers. Thyroid cancer is diagnosed by cytological analysis of a fine needle aspiration biopsy. Between 10-15% of all thyroid biopsies are inconclusive, in which case a molecular diagnostic can be used to determine the tumor status prior to surgery (www.thyca.org). Current thyroid cancer diagnostics are not 100% effective at diagnosing cancer. This current technology detects novel mutations in the TERT gene promoter found specifically in thyroid cancer tumors;
- TERT promoter mutations detected at high frequency in the most common (papillary, follicular) and aggressive (anaplastic) thyroid cancers.
- Is detected in BRAF V600E-negative cancers. BRAF V600E is a current thyroid cancer molecular diagnostic.
- Could be used in parallel with BRAF V600E to increase diagnostic coverage.
Technical Details:
Johns Hopkins researchers examined a number of thyroid cancer cell lines and thyroid cancer tumors for the presence of cancer specific mutations in the TERT gene promoter. The TERT gene encodes the catalytic subunit of the telomerase, an enzymatic complex that maintains telomere length and is a key regulator of cell mortality. TERT promoter mutations were detected in papillary, follicular and anaplastic thyroid cancer tumors. Interestingly, TERT promoter mutations were absent from medullary thyroid cancers. The TERT promoter mutations were not detected in benign thyroid cancer tumors.
Looking for Partners: To develop and commercialize the technology as a diagnostic and prognostic for thyroid carcinomas.
Stage of Development: Pre-Clinical
Data Availability: Under CDA/NDA
Patent Status: PCT published application WO 2014/160834
Publication(s)/Associated Cases: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3782569/
