Background

Early diagnosis, detection of relapse, as well as molecular monitoring of cancer treatment are of paramount importance for patients with pediatric cancers. Known nuclear DNA markers are not universally present in all cancer cells or cancer types. Thus, testing individual markers benefits only a small percentage of patients.

Technology Overview

By mining sequencing data sets from pediatric cancer patients, we have identified mutations in the mitochondrial DNA (mtDNA) genome that could serve as molecular markers for diagnosis and prognosis. On this basis, tests could be developed using a variety of molecular techniques. The advantage of mtDNA markers is that mtDNA is 10-100X more abundant that nuclear DNA, which should increase the sensitivity for screening. Moreover, the mtDNA genome is small and circular, which makes it more stable (possibly less error). Further, the markers that are suggesting of defective motichondrial function could serve as treatment targets.

Further Details: https://cancerres.aacrjournals.org/content/79/7/1318

Benefits

Potential for diagnostic/prognostic tests that are:

• More sensitive
• Less error‑prone