BACKGROUND

Ewing’s Family of Tumors (EFTs) is the second most common primary malignant bone tumor in adolescents and children. Due to the severity of the disease, misdiagnosis leads to poor outcomes.

EFTs are caused by chromosomal translocation. Eighty-five percent of cases are due to the translocation of EWS-FL1 between chromosomes 11 and 22. FISH (Fluorescent in situ hybridization) is a reliable diagnostic for EWS-FL1 translocation. However, other variant translocation types cannot be reliably diagnosed with this approach.

It would be valuable for clinicians to have one diagnostic marker that identifies all types of EFTs.

TECHNOLOGY DESCRIPTION

This diagnostic tool is based on an RNA transcript. The transcript was identified using microarray gene expression profiling. This gene expression is associated with and highly specific for EFTs.

In its largest form, the RNA transcript is referred to as AK057037, or simply AK. The AK transcript is a relatively large transcript that shows high levels of expression in EFTs, but not in other common childhood tumors or healthy tissue. It is therefore highly and significantly associated with EFT.

AK is highly expressed regardless of translocation type (EWS-FLI1 or EWS-ERG). It is therefore an excellent diagnostic marker for EFTs.

AK also may serve as a prognostic marker for EFTs. Its prognostic use can provide information related to the effectiveness of a chosen cancer treatment modality.

DEVELOPMENTAL STAGE

Clinical validation in progress

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File Number: 2008-014 

Web site: http://www.chla.org/site/c.ipINKTOAJsG/b.474061...

Other Information:

Principal Investigator:
Timothy Triche

Additional Investigator(s):
Daniel Wei, Michel Wing, Elizabeth Lawlor

Contact:
Jessica Rousset, Director
Email:JRousset@chla.usc.edu
Phone:323.361.4531