Cleveland Clinic team uncovers genetic link to osteosarcoma

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. 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." 

Richa Sharma, MD, senior study author, pediatric hematologist and oncologist at Cleveland Clinic Children's

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.