Gene Discovery Sheds Light on Childhood Cancer

Pleuropulmonary blastoma (PPB) is a rare and aggressive form of childhood lung cancer, affecting only 50 to 60 children globally a year. If identified early, it has a 90 percent cure rate however; doctors rarely expect to find lung cancer in newborns or young children. If not treated correctly, children diagnosed with PPB only have a 40 percent chance of survival.

Researchers have found that children diagnosed with PPB are born with a mutation in DICER1, a master controller gene that helps regulate other genes. In addition to this, children have normal looking cells in their lungs that appear to cause neighbouring cells to turn cancerous.

About 40 percent of cases of PPB are found in children whose families have a history of some kind of cancer, suggesting an inherited genetic cause. Researchers were surprised to discover the mutation in DICER1, which is named for its function of chopping up large molecules into smaller molecules called microRNAs that help regulate other genes.

The children with the DICER1 mutations had the defect in every cell of their body. The fact that the cell induces cancer in neighbouring cells has never been seen by scientists before. The next step for researchers is to attempt to develop a test for the DICER1 mutation that can be used to identify whether children born to high-risk families carry it and are at high risk themselves.

Researchers say that the discovery of this unexpected genetic mutation represents a whole new mechanism for the development of cancer. They also believe that the finding may shed light on adult cancers.

Published by 4209763
27^th May 2009

Reference:

Fox, Maggie (2009). Gene discovery sheds light on childhood cancer. Reuters.