Alex's Lemonade Stand Foundation for Childhood Cancer

Current therapies for children with rhabdomyosarcoma are highly toxic and cause lifelong complications for survivors. In addition, high-risk patients have very poor outcomes. More effective and less toxic therapies are needed for these patients. Fusion-negative rhabdomyosarcoma is the more common rhabdomyosarcoma, characterized by frequent cancer-causing mutations in genes called the Ras family genes. We and others have shown that interventions targeting a signaling pathway called the Mitogen Activated Protein Kinase pathway would benefit patients with fusion-negative rhabdomyosarcoma.

Cancers of neural and neuroectodermal origin are rare in incidence. However, high rates of mortality convert these infrequent tumors into the second leading cause of cancer-related death among children less than 15 years of age. Genetic analysis of familial cancers provides fundamental insights into their more common sporadic equivalents. Using integrative genomics, we recently identified a novel cancer gene known as TMEM127. We discovered that truncating TMEM127mutations are responsible for the development of familial pheochromocytomas, highly vascular tumors of neural crest origin.