Professor Owen Smith, an NCRC clinical researcher and Consultant Paediatric Haematologist at Our Lady’s Children’s Hospital, Crumlin, is part of an international team that has made a breakthrough in juvenile myelomonocytic leukaemia (JMML). The study, published in Nature Communications, shows for the first time, that JMML can be broken into three subgroups with unique molecular and clinical characteristics, through analysis of DNA methylation. Based on high, intermediate or low methylation, differences in the underlying mutations, and significantly, in the prognosis of the disease have been identified. High methylation is associated with a poor clinical outcome, low methylation with a good outcome.
JMML is an aggressive cancer of early childhood; without adequate treatment, survival for most children is less than 1 year. Treatment is stem cell transplantation, and even with this, the 5 year event-free survival still reaches only about 50%.
This study is a huge advance in the care of children with this type of cancer; providing a method to predict the disease outcome, and to stratify risk of relapse. From this, future work in the mechanisms underlying the DNA methylation in this disease, will potentially lead to new avenues of treatment.