Our body relies on cell communication to function. This communication is particularly important for white blood cells, where the right signals help regulate production, maturation and response to infection.
Cells receive these messages through receptors. One such receptor is the colony-stimulating factor 3 receptor (CSF3R), which helps regulate the production of neutrophils, a type of white blood cell produced in the bone marrow.
Mutations affecting this receptor can scramble the message between cells to disrupt production, growth and behaviour of blood cells. In some cases, these changes can contribute to blood cancers such as leukemia.
Not all mutations behave in the same way and identifying the differences is essential to improving cancer treatments.
Identifying the disruptions
Professor Alister Ward and Dr Clifford Liongue reviewed the growing evidence on how different mutations affecting CSF3R influence blood and immune cell cancers.
They found that mutations can disrupt cell signalling in different ways. Some cause the receptor to remain switched on or become overly responsive, contributing to excessive white blood cell production.
Others have the opposite effect, impairing the signal and disrupting normal cell development.
These mutations were identified across a range of blood cancers, including chronic neutrophilic leukemia, myeloproliferative and myelodysplastic neoplasms, acute myeloid leukemia and some lymphoid cancers.
While CSF3R mutations are mostly associated with blood cancers, there is also evidence that the receptor can promote cancer even when it’s not mutated.
Specifically, it has been detected in a variety of tumours, where its activity may create an environment that indirectly supports tumour growth.
This is important as CSF3 (the molecule that activates CS3FR) is commonly given to cancer patients after chemotherapy to restore white blood cell levels.
Importantly, the research also determined that these mutations do not act alone, often occurring alongside other genetic mutations that together influence how blood cancers develop and progress.
Genetic insights for cancer treatment
This research highlights the importance of genetic testing to identify the specific combination of mutations influencing a person’s cancer.
Understanding this enables clinicians to determine and provide the most effective treatment approach.
Where next?
Current research aims to understand the contribution of co-occurring gene mutations and how they co-operate with CSF3R mutations during the progression of leukaemia.
Characterising how these co-operative gene mutations contribute to the progression of leukaemia may open new avenues for patient-centred therapeutic interventions.
This article was originally published in our 2025 Impact Report. Explore the full report.
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