Childhood Cancer Research
Broad Institute
Cambridge, MA 02142
United States
Mentor Name: Rameen Beroukhim
Most pediatric low-grade brain tumors harbor a specific change in their DNA that promotes tumor growth. This DNA change creates a fusion between two genes, the first is a gene (called BRAF) that is already known to promote tumor growth, and the second is a poorly characterized gene. Drugs have been developed which block this fusion gene, but these drugs still have several challenges when they are used to treat patients. The first problem is that many patients are initially resistant to the drugs, which necessitates devising alternative treatment strategies.
Background
Researchers have made tremendous progress in describing the genetic basis of human blood cancers with the advent of new technologies, such as next generation sequencing (NGS). However, we currently do not understand how most of the genes implicated in leukemia development actually cause leukemia, and how to best target them with new therapies. Inherited mutations or deletions affecting the RUNX1 gene cause a syndrome, Familial Platelet Disorder with predisposition to Acute Myeloid Leukemia (FPD/AML).
