Uncovering mutations in rare infant tumours

Infant cancers are rare, and thankfully the cure rates are in the main very high. If they aren’t too big, tumours (the masses caused by the abnormal cell growth) can be surgically removed, but if they are too big, they first need to be shrunk, and currently chemotherapy is used to do this - which isn’t guaranteed to work. Some rare infant cancers are stubbornly difficult to treat - and even if they can be treated, chemotherapy has side effects that are difficult enough for adults to deal with, let alone babies and children. So are there alternative options out there?

Recently, scientists have determined the genetic underpinnings for two of these very rare infant cancers- a kidney cancer called congenital mesoblastic nephroma, and infantile fibrosarcoma, which typically arises in the limbs. One villianous mutation has already been identified, but this isn’t found in all cases. Excitingly, the revelations suggest that drugs already on the market could be viable treatment options for these cancers. Sam Behjati from the Wellcome Trust Sanger Institute in Cambridge took Katie Haylor through the study…