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SearchThe findings could help identify patients with osteosarcoma sooner and lead to personalized treatment
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Researchers at Cleveland Clinic Children’s have helped identify a previously unknown gene that increases the risk of developing osteosarcoma, the most common type of malignant bone tumor in children and young adults.
Recently published in the Journal of Clinical Oncology, researchers analyzed genetic information from nearly 6,000 children with cancer and compared it to more than 14,000 adults without cancer. Utilizing databases and prediction tools, the study authors focused on 189 genes that participate in several DNA repair pathways.
The results showed that some children with cancer had inherited changes in certain DNA repair genes, that may raise their risk of developing particular cancers. One gene in particular, SMARCAL1 was flagged as a significant risk factor for osteosarcoma. Approximately 2.6% of children with osteosarcoma carry these inherited mutations in SMARCAL1, which may weaken DNA repair and promote tumor growth.
“These findings not only deepen our biological understanding of osteosarcoma, but allows for earlier detection, and the potential for developing targeted treatments for this rare but aggressive cancer,” said senior study author, Richa Sharma, MD, pediatric hematologist and oncologist at Cleveland Clinic Children’s. “With little progress in osteosarcoma treatment over the past 40 years, this discovery could pave the way for significant advancements in care for patients with this condition.”
Osteosarcoma is the most common type of bone cancer, and typically develops in the arms or legs. Symptoms can include bone pain, a lump or swelling, and a bone that breaks easily. Experts estimate that fewer than 1,000 people in the U.S. develop osteosarcoma each year. Around 7 in 10 people survive if the disease doesn’t spread to other parts of the body, but only 2 in 10 children survive if the disease does spread outside the original bone site.
The study was done in collaboration with researchers from St. Jude’s Children’s Research Hospital, Mayo Clinic, and Kitz Hopp Children’s Cancer Center Heidelberg in Germany.
Cleveland Clinic Children’s is a part of the Cleveland Clinic health system and offers full medical, surgical and rehabilitative care for infants, children and adolescents. Cleveland Clinic Children’s supports 389 beds in four acute care hospitals and one post-acute specialty hospital. In addition, pediatric services are available at more than 50 outpatient clinic locations across Northeast Ohio. A staff of more than 400 full-time pediatricians and sub-specialists see more than one million pediatric visits each year and provide hospital care for 13,000 children per year. Cleveland Clinic Children’s is a non-profit, multi-specialty academic medical center integrating clinical care, research, and education. Cleveland Clinic Children’s consistently ranks among the “Best Children’s Hospitals” by U.S. News & World Report. Visit us online at www.clevelandclinic.org/childrens and on Facebook at www.facebook.com/clevelandclinicchildrens.
Cleveland Clinic is a nonprofit multispecialty academic medical center that integrates clinical and hospital care with research and education. Located in Cleveland, Ohio, it was founded in 1921 by four renowned physicians with a vision of providing outstanding patient care based upon the principles of cooperation, compassion and innovation. Cleveland Clinic has pioneered many medical breakthroughs, including coronary artery bypass surgery and the first face transplant in the United States. Cleveland Clinic is consistently recognized in the U.S. and throughout the world for its expertise and care. Among Cleveland Clinic’s 82,600 employees worldwide are more than 5,786 salaried physicians and researchers, and 20,700 registered nurses and advanced practice providers, representing 140 medical specialties and subspecialties. Cleveland Clinic is a 6,728-bed health system that includes a 173-acre main campus near downtown Cleveland, 23 hospitals, 280 outpatient facilities, including locations in northeast Ohio; Florida; Las Vegas, Nevada; Toronto, Canada; Abu Dhabi, UAE; and London, England. In 2024, there were 15.7 million outpatient encounters, 333,000 hospital admissions and observations, and 320,000 surgeries and procedures throughout Cleveland Clinic’s health system. Patients came for treatment from every state and 112 countries. Visit us at clevelandclinic.org. Follow us at x.com/CleClinicNews. News and resources are available at newsroom.clevelandclinic.org.
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