Novel Molecular Diagnostics for Thyroid Cancer
JHU REF: C12597
Invention novelty: This invention has identified a novel tumor suppressor gene, RASAL1 in thyroid cancers. Genetic mutations and epigenetic alterations of the RASAL1 gene can be used for the diagnosis of 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 only ~70% effective at diagnosing cancer. This diagnostic is advantageous because;
- Occurs in about 30% of tested follicular and anaplastic thyroid cancers.
- It occurs mutually exclusive from classical molecular markers used in thyroid cancer detection.
- In combination with current molecular diagnostics, could potentially make cytological diagnosis obsolete, which would greatly reduce cost of diagnosis.
Technical Details:
Johns Hopkins researchers found RASAL1 gene transcripts are severely reduced in thyroid cancer cell lines. The RASAL1 gene product, RAS GTPase-activating protein, which negatively regulates RAS proteins. RAS proteins activate MAPK and PI3K pathways, both of which have been well characterized as misregulated in thyroid cancers. The reason for reduced RASAL1 transcript levels is gene repression due to promoter methylation and genetic mutations.
Looking for Partners: To develop and commercialize the technology as a prognostic, diagnostic and/or therapeutic target for follicular and anaplastic thyroid cancers.
Stage of Development: Pre-Clinical
Data Availability: Under CDA/NDA
Patent Status: Pending
Publication(s)/Associated Cases: WO 2015020929 A2; PMC3818169
Categories: Diagnostics
Keywords: thyroid cancer, diagnostic, molecular, genotyping, methylation, RASAL1, RAS, MAPK, PI3K, prognostic, RAS GTPase-activating protein
