Identification of Chromosome 1 and Chromosome 19 Genes Contributing to Oligodendrogliomagenesis

C11619: Novel Molecular Diagnostic for Brain Cancer

Novelty:

The invention is novel genetic mutations to genes CIC and FUBP1 not previously associated with oligodendrogliomagenesis, the second most common malignant brain tumor type in adults.

Value Proposition:

The inventors indentified unreported changes in a gene’s amino acid sequence that appears to promote aggressive oncogenic phenotypes in brain tumors. The diagnostic assessment of this target may enable more effective targeting of patients at risk of developing or those that have already developed a brain lesion. The protein seems to be a specific marker of high grade anaplastic tumors that are often hard to clearly distinguish from other brain tumors. Other advantages include:

- Can be developed as a prognostic biomarker useful in predicting clinical outcomes.
- Could be developed as a companion diagnostic to stratify patients for specific treatments.
- Could be developed as a target of drug discovery and development of therapeutics.

Technical Details:

Johns Hopkins researchers along with researchers from Duke University have used sequencing methods to determine mutations that can be used to diagnose brain tumors associated with a particular molecular pathway. Specifically, researchers analyzed anaplastic oligodendrogliomas with specific chromosomal losses and found evidence that two genes (CIC and FUBP1) were frequently mutated in this tumor type. Of those somatically mutated genes 58% were predicted to result in truncations of the encoded proteins. By studying the genetic landscape of this second most common brain tumor type, insight is gained into the critical role these mutations have in the pathology of oligodendrogliomagenesis. Additionally, this discovery provides more information about specific molecular pathways that define tumorigenic functions.

Looking for Partners:

To develop & commercialize the technology as a diagnostic test to stratify patients reporting brain cancer symptoms as well as monitoring treatment effectiveness

Stage of Development:

Preclinical

Data Availability:

Under NDA / CDA

Publications/Associated Cases:

PNAS December 27, 2011 vol. 108 no. 52 21188-21193