ASH 2015

Comment: Study identifies genetic variant that signifies higher risk for avascular necrosis in children with acute leukaemia

Dr Wendy Stock - University of Chicago, Chicago, USA

Dr Cole’s paper on ALL looking at bony morbidity, now what was that all about? What, for you, is the take-home?

It’s a very similar problem. This was talking about both risk of osteonecrosis of the bone and fractures of the bone as a complication of treatment of ALL. Instead of using a very broad genome approach, an unbiased approach as was in the first abstract, they used a focussed candidate gene approach looking for variance in genes that are known to be important for bone development and bone morbidity, fracture risk. So they identified one, the gene thymidylate synthase, which is a gene that is important for methotrexate metabolism which is one of the drugs that we use for treatment of ALL. They found that this gene, a variant in this gene, predisposed patients to a higher risk of both fracture in the older patients and osteonecrosis in the younger patients.

And for you the important take-home?

Again, the same thing, that there are variants in the genome that predispose patients to the development of these problems. Now, what can we do about those problems, that’s the question. What my hope is for the future is that perhaps it will be possible either to develop drugs that prevent those toxicities from happening or using therapies, which we can’t do at the moment since these are the best therapies that we have, that decrease the risk of exposure to the drugs that cause these problems.