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Breakthrough Study Identifies Genetic Causes of Pediatric Chordoma

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Source-Weill-Cornell-Medicine New Insights into a Rare Bone Tumor Researchers at Children’s Hospital Los Angeles (CHLA) have made significant strides in understanding the genetic causes of pediatric chordoma, a rare and aggressive bone tumor. Chordomas, which occur in approximately one in a million people annually in the U.S., present unique challenges in children, as they primarily occur at the base of the skull. This location often makes complete surgical removal difficult, necessitating high doses of radiation that can harm the developing brain. A team led by Dr. Xiaowu Gai and Dr. Jaclyn Biegel at CHLA’s Center for Personalized Medicine has published a study revealing two classes of genetic causes for pediatric chordoma pediatric chordoma , paving the way for better treatment strategies. Genetic Discoveries and Methodologies The CHLA team conducted a comprehensive genomic analysis, examining both nuclear DNA and  mitochondrial DNA (mtDNA)  in tumor samples from 23 pediatri...