Genome-wide profiling identifies epigenetic alterations at birth preceding diagnosis of childhood leukaemia

A new study conducted by scientists in the Epigenomics and Mechanisms Branch at the International Agency for Research on Cancer (IARC), in collaboration with a large international network of collaborators, provides new evidence that molecular (epigenetic) alterations associated with childhood cancer may be evident at birth. This is consistent with the notion that these changes may play a precursor role in the development of paediatric cancer. The study, which involves several birth cohorts, is based on the International Childhood Cancer Cohort Consortium (I4C).

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IARC scientists conducted epigenome-wide (DNA methylation) profiling of blood samples collected at birth from children who later developed paediatric precursor B-cell acute lymphoblastic leukaemia (pre-B ALL), the most common cancer type in children. The study identified specific genes as being targeted by aberrant methylation from the time of birth in pre-diagnostic cases relative to controls.

Aberrant methylation was significantly associated with changes in gene expression in diagnostic tumour samples and predicted overall survival of patients with pre-B ALL. This study is the first to interrogate the epigenome of pre-diagnostic childhood cancer cases at birth. The findings are reproducible in populations from three continents (America, Europe and Australia) and encompassing two ethnic groups. The study adds to the increasing evidence that epigenetic alterations evident before diagnosis may play a precursor role in the development of paediatric pre-B ALL and affect the prognosis of patients with this disease.

This research is part of the EpiChildCan project on identifying epigenetic markers of childhood cancer risk.

Visit the EpiChildCan project website 

Visit the International Childhood Cancer Cohort Consortium (I4C) website 

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Visit the International Childhood Cancer Day 2022 webpage