14 Feb 2025

Research blog: A Spotlight on Infant Leukaemia 

On International Childhood Cancer Day, we turn our focus to infant leukaemia, a rare but aggressive cancer that poses unique challenges for researchers, doctors, and families alike. Unlike leukaemia in older children, which typically originates in the bone marrow, infant leukaemia has its roots in foetal development. This difference complicates treatment and makes the disease particularly difficult to study. 

Infant leukaemia often arises from mutations that occur in utero (before birth, while the baby is still in the mother’s uterus), during a time when blood cell production (haematopoiesis) is taking place in multiple tissues, not just the bone marrow.  

Treating infant leukaemia is especially challenging. Unlike older children, whose leukaemia often responds well to conventional chemotherapy, infants show poor responses. This leads to a worse prognosis, with survival rates lower than 50%.(i) The disease progresses rapidly, with infants often presenting severe symptoms such as jaundice and central nervous system involvement. Additionally, infants with leukaemia are more prone to “lineage switching,” where lymphoid leukaemia can transform into myeloid leukaemia during treatment.  

Despite international efforts, treatment advancements have been slow, highlighting the urgent need for continued research and innovation. 

We last spoke to Dr Samanta Mariani, a Leukaemia UK researcher focusing on infant leukaemia, in February 2022 for her personal journey into researching leukaemia and infant leukaemia. Three years on, we have asked her to help us delve into the complexities of this disease and how it affects children. 

What is the current understanding of the causes of infant leukaemia?
Infant leukaemia refers to a blood cancer diagnosed in infants up to one year of age. It is caused by mutations—small errors in DNA—that occur randomly during foetal development. 

In most cases, a piece of a chromosome moves to another chromosome, disrupting a gene’s function. This dysregulation leads to blood cells behaving abnormally. While most cases occur without known risk factors, certain conditions, like Down syndrome, can increase susceptibility to childhood blood cancers. However, infant leukaemia is not hereditary and is not passed from mother to child during pregnancy.  

What are the most significant recent advancements in treating infant leukaemia?
Unfortunately, no major breakthroughs have been made in recent years. One of the biggest challenges is studying the foetal origins of the disease due to difficulties in accessing embryonic tissue and creating accurate models. 

Current treatment options include haematopoietic stem cell transplants (HSCT) and CAR-T cell therapy. While CAR-T cell therapy has shown promise in some cases, it’s limited to specific types of B-cell leukaemia. Some patients relapse with a myeloid phenotype, which is resistant to this treatment. 

This underscores the urgent need for more research into the biology of the disease to develop new, more effective therapies. 

What is the typical prognosis for infants diagnosed with leukaemia?
The overall survival rate for infant leukaemia is approximately 50%, with certain mutations—such as those involving the KMT2A gene—linked to worse outcomes. Even for survivors, the side effects of treatment can be significant, underscoring the need for therapies that are both more effective and less aggressive. 

What has been the most rewarding aspect of your work in this field?
Before receiving the John Goldman Fellowship from Leukaemia UK, my research focused on normal blood development and adult leukaemia. With this fellowship, I’ve been able to dig deeper into infant leukaemia, exploring aspects of the disease that were previously uncharted. 

The most rewarding part has been contributing to our understanding of this disease and working toward new therapies. I am forever grateful to Leukaemia UK for enabling this work. 

What does the future hold for infant leukaemia research?
I believe we must explore the disease from new angles.  

One of my recent efforts has been to create a mouse model to help us study how non-leukaemia cells in the immune system respond to the disease. We’ve found that some of these cells, which should fight the leukaemia, are actually “corrupted” and help it grow. 

Our goal is to target these corrupted cells to make leukaemia more vulnerable to chemotherapy. Over the next few years, my team will focus on developing these findings into potential treatment therapies. 

Conclusion 

Infant leukaemia remains a devastating diagnosis, but through research, we are uncovering new ways to understand and treat this aggressive disease. While survival rates are still low, ongoing efforts like Dr Mariani’s are bringing us closer to breakthroughs that could help those diagnosed in the future. Leukaemia UK is dedicated to funding research that not only improves survival but also leads to kinder, more effective treatments—helping to stop leukaemia from devastating lives. 

  How can the public help? 

1. Support Research: Donations to Leukaemia UK directly fund critical studies like Dr Mariani’s. 
2. Raise Awareness: Share information about the challenges and breakthroughs in treating infant leukaemia. 
3. Engage with the Cause: Participate in events, fundraisers, or advocacy campaigns to support affected families and advance research. 

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References:

(i) – https://childrenscancer.org/infant-leukemia-a-team-approach/#:~:text=While%20older%20children%20who%20are%20diagnosed%20with%20leukemia,treatment%2C%20is%20very%20different%20from%20other%20childhood%20leukemias. – Accessed 07/02/2025