Research Reveals Genetic Link to Most Common Pediatric Bone Cancer

CLEVELAND - Researchers at Cleveland Clinic Children’s have helped identify a gene that increases the risk of developing osteosarcoma, which is the most common type of bone cancer in children and young adults. 

“Osteosarcoma is a very malignant, aggressive cancer that has a poor prognosis. And thus far, it doesn't have a lot of genes that we can test for that would tell you that you're at risk for this cancer. Well, SMARCAL1 one happens to be one of those genes that we can now actually test for in families that have history of cancers, or history of this particular osteosarcoma cancer,” said Richa Sharma, MD, hematologist and oncologist at Cleveland Clinic Children’s.

Dr. Sharma, who led the research, said they analyzed genetic information from nearly 6,000 children with cancer and compared it to more than 14,000 adults with cancer. 

Ultimately, they found one gene in particular had a significant risk factor for osteosarcoma. 

In addition, approximately 2.6% of children with osteosarcoma had inherited mutations of that gene, which Dr. Sharma said may weaken DNA repair and promote tumor growth. 

She explained that these findings could be helpful not only for future risk assessment but also for potential therapies. 

“From a therapy perspective, this is where scientists really need to collaborate and get together and understand how SMARCAL1 drives tumor biology, because that is how you're going to achieve targetable therapies. And so, it has bigger potential, but the science is behind. We need to catch up now and try to connect the dots,” said Dr. Sharma. 

Reports show that fewer than 1,000 people in the United States develop osteosarcoma each year.