Researchers ID First Drug Targets in Childhood Genetic Tumor Disorder

Two mutations central to the development of infantile myofibromatosis (IM)—a disorder characterized by multiple tumors involving the skin, bone, and soft tissue—may provide new therapeutic targets, according to researchers from the Icahn School of Medicine at Mount Sinai in New York and colleagues. The findings, published online on May 23, 2013 in the American Journal of Human Genetics, may lead to new treatment options for this debilitating disease, for which the only current treatment option is repeated surgical removal of the tumors. IM is an inheritied disorder that develops in infancy or even in utero and tumors continue to present throughout life. The tumors do not metastasize, but can grow large enough to invade the tissue surrounding them causing physical limitations, disfiguration, bone destruction, intestitinal obstruction, and even death. Currently, the standard of care is to excise the tumors when possible, which can be invasive, painful, and disfiguring, and most patients require multiple surgeries throughout their lives. Led by John Martignetti, M.D., Ph.D., Associate Professor of Genetics and Genomic Sciences, Oncological Sciences, and Pediatrics and other researchers at the Icahn School of Medicine at Mount Sinai and Hakon Hakonarson, M.D., Ph.D., at the Children's Hospital of Philadelphia, the global research team gathered blood samples from 32 people from nine different families affected by the disease and performed whole-exome sequencing, a type of genomic sequencing where all protein-coding regions of the genome, called the exome, are analyzed. They identified mutations in two genes: PDGFRB and NOTCH3. "We are very excited about the findings of this study, which started 10 years ago with the enrollment of the first family," said Dr. Martignetti.
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