Alex's Lemonade Stand Foundation for Childhood Cancer

Osteosarcoma is a bone tumor occurring most often in children and young adults. These patients have a 5-year survival rate of less than 20% if the cancer has spread to distant sites at the time of diagnosis.

Mentor: Kevin Shannon

Mentor: Dr. Elliot Stieglitz

Fusion-negative sarcomas are a diverse and understudied subset of pediatric cancers. The most prevalent are embryonal rhabdomyosarcoma (ERMS) and osteosarcoma (OS). Osteosarcoma is characterized by an abnormal genome with many alterations, most of which are called “copy number gains” or “copy number losses.” In a normal genome, there are only two copies of every gene. However, in OS many genes have more than 4 copies, sometimes even 10 or more copies.

Background

Pediatric brain tumors are the leading cause of childhood cancer death, with gliomas being the most common diagnoses. The drugs that are currently used to treat this target BRAFV600E mutation, found in a subset of glioma cancers and causes aberrant cell signaling. Previous studies, however, have shown that monotherapy against the BRAF600E mutation leads to feedback activation of other cellular pathways known the increase tumor proliferation, and ultimately build resistance against BRAFV600E targeted treatment.