Epigenome-wide analysis across the development span of pediatric acute lymphoblastic leukemia: backtracking to birth

Scientists from the International Agency for Research on Cancer (IARC) and partner institutions have identified molecular markers in blood samples from newborn babies that may indicate a greater risk of developing leukaemia, the most common cancer type that affects children. These markers were also present in cancerous tissues from patients with leukaemia, and they served as indicators of patient survival. The findings were published in the journal Molecular Cancer.

The scientists searched for epigenome (DNA methylation) markers in surrogate (blood) and cancerous tissues across the development span of paediatric leukaemia, including at birth, diagnosis, remission, and recurrence. This study uncovered epigenetic precursors of leukaemia that could be detected at birth, before children develop the disease. In the absence of changes in the DNA code, the methylation levels of specific areas of DNA were differently modified in the blood of children who went on to develop paediatric leukaemia compared with those who did not. These epigenetic marks remained detectable in cancerous tissues collected at diagnosis, and hypermethylation was associated with significantly worse patient survival. The findings were reproducible with different technologies, in three continents, and in two ethnicities.

These results provide a proof of concept for the detection at birth of epigenetic alterations that predispose to paediatric leukaemia and affect the course of the disease in patients. Unlike genetic defects, epigenetic modifications are potentially reversible, and they can offer actionable targets for personalized therapy. These findings also hold promise for early detection of paediatric leukaemia, especially given that blood-based biomarkers are easy to measure and amenable to population screening.

Ghantous A, Nusslé SG, Nassar FJ, Spitz N, Novoloaca A, Krali O, et al.
Epigenome-wide analysis across the development span of pediatric acute lymphoblastic leukemia: backtracking to birth
Mol Cancer. Published online 23 October 2024;
https://doi.org/10.1186/s12943-024-02118-4

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