Little is known about the genetics and biology of chordoma, a rare and aggressive bone tumor. Chordomas occur in approximately one in a million people in the U.S.
a year and only five percent of these are in children. These tumors can arise anywhere along the spine in adults. However, in children these tumors occur mostly at the base of the skull, making complete surgical removal challenging or impossible.
Any tumor remnants are treated with high doses of radiation-;which can cause significant damage to the developing brain. A team of researchers led by Xiaowu Gai, PhD and Jaclyn Biegel, PhD, FACMG, at the Center for Personalized Medicine at Children's Hospital Los Angeles, has recently published a genomic study that uncovered two classes of genetic causes for chordoma in children by conducting some genomic detective work. Finding the causes driving the different subtypes of chordoma could lead to the development of better treatment strategies for children.
Prior studies have been conducted primarily in adults and we know that children's tumors can present and behave differently." Katrina O'Halloran, MD, MS, pediatric neuro-oncologist and first author of the study For example, pediatric solid tumors are more likely to be driven by underlying germline changes-;alterations that can be passed on to future generations-;that increase the risk for cancer. Previous chordoma studies revealed the primary genetic defect in one subtype of the disease, poorly differentiated pediatric cho.
