Scientists have discovered leukaemia-linked biomarkers present in newborns’ blood.

A new study has identified molecular markers at birth that could help detect acute lymphoblastic leukaemia (ALL), the most common cancer in children. 

The findings, published in Molecular Cancer, could enhance early diagnosis, prognosis, and treatment of a disease that remains the leading cause of cancer-related deaths among children.

The study, led by the International Agency for Research on Cancer (IARC) with 17 global partners, including the Murdoch Children’s Research Institute (MCRI) in Melbourne, aims to trace leukaemia’s origins back to birth. 

Researchers used a novel approach to examine the molecular profiles of patients from birth through diagnosis, remission, and relapse.

ALL, particularly pre-B-cell ALL, accounts for most childhood leukaemia cases. 

Although the causes are unclear, there is growing evidence that the disease begins in-utero. 

Researchers analysed DNA methylation patterns in blood and bone marrow samples, focusing on VTRNA2-1, an epigenetic marker linked to gene regulation.

VTRNA2-1 was hypermethylated in newborns who later developed ALL, with consistent results across diverse populations. 

This hypermethylation was stable over time and observed in both surrogate (blood) and target (bone marrow) tissues. 

In patients, VTRNA2-1 levels increased at diagnosis, normalised during remission, and rose again during relapse, correlating with worse survival outcomes. 

Researchers believe VTRNA2-1 could offer a target for therapy and improved patient survival.

“Epigenetic changes like DNA methylation are reversible, opening up possibilities for targeted therapies that could delay or prevent leukaemia in children,” said one researcher from IARC.

The study suggests potential for early screening, allowing at-risk children to be identified before symptoms appear. 

However, further research is needed to confirm these findings and develop screening tools for clinical use. 

Researchers are optimistic that identifying risk factors at birth could shift focus from treatment to prevention, altering the disease's trajectory.

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