Vascular tumors are the most common abnormal growths in infants and children, affecting 5%-10% of newborns. Most are benign infantile hemangiomas (strawberry birthmarks) which spontaneously regress or respond to treatment with beta-blocking drugs. But a small subset of these tumors remain resistant to pharmacological therapies and require surgery. In a new study, a team of Yale-led researchers identified specific mutations in the GNA14 and GNA11 genes within these unresponsive tumors, and revealed that these mutations act via a chain of proteins known as the MAPK pathway. This insight highlights the importance of differentiating vascular tumors in children, because those that do not respond to conventional therapy may require an alternative, targeted approach, said Young Lim, an M.D.-Ph.D. student and author of the study. The findings raise the possibility for developing novel therapeutic approaches for these growths, said Keith Choate, M.D., associate professor of dermatology at Yale School of Medicine. The study was published July 28 in the American Journal of Human Genetics.
Submitted by Keith Choate on October 06, 2016