Researchers at the HEVA Research Laboratory of the University of Milano-Bicocca, led by Emanuele Azzoni, have made progress in understanding how white blood cells are first produced during embryonic development. The findings could help uncover the origins of juvenile myelomonocytic leukaemia (JMML) and, in the future, contribute to the development of the first targeted treatments for this rare childhood blood cancer.

The research is supported by Worldwide Cancer Research through £240,000 in funding, equivalent to approximately €280,000, awarded to Azzoni’s research group to investigate the molecular pathways linking persistent inflammation to JMML.

A rare cancer affecting very young children

JMML is a rare and aggressive blood cancer that primarily affects children under the age of three. It accounts for approximately 1% of all paediatric leukaemias, with an estimated incidence of one to two cases per million children.

The disease is characterised by the excessive production of monocytes, a type of white blood cell involved in the immune response. In children with JMML, these cells remain immature and are therefore unable to function properly.

Treatment options are currently limited. For many patients, a haematopoietic stem cell or bone marrow transplant is the only available therapeutic approach, but the disease subsequently returns in around half of cases. A better understanding of its biological origins is therefore essential to identify more effective and less invasive treatments.

Looking at the earliest stages of blood formation

Azzoni and his team began their research by investigating evidence suggesting a connection between inflammation and the development of JMML. This led them to examine the molecular pathways through which cells communicate and regulate their functions.

By studying these mechanisms, the researchers have gained new insights into how white blood cells are generated during embryonic development. Understanding this process is particularly important because errors arising at these very early stages could contribute to the onset of paediatric blood cancers.

The discovery provides a foundation for investigating how alterations in normal blood development may lead to JMML. The next step will be to identify the specific errors involved and determine whether they reveal molecular targets that can be acted upon with new drugs.

Towards earlier diagnosis and targeted therapies

In the longer term, the research could help shift JMML care towards earlier and more targeted intervention. Identifying the mechanisms that initiate the disease could lead not only to new therapeutic strategies, but also to tools for detecting its development at an earlier stage.

This could give young patients access to a wider range of treatment options and improve clinical outcomes. It may also contribute to the development of less toxic therapies, reducing the impact of treatment on children and their families.

The findings were featured by Worldwide Cancer Research, which supports discovery research aimed at opening up new approaches to cancer prevention, diagnosis and treatment.