A groundbreaking study has revealed a genetic signpost present in blood samples taken at birth that could determine whether or not that child will later develop the most common form of childhood cancer.
Acute lymphoblastic leukaemia (ALL), represents 55% of all blood cancer diagnoses in children aged 0-14 years and is a devastating diagnosis for thousands of families.
The international, collaborative team which included a researcher from Perth’s Harry Perkins Institute of Medical Research, discovered a molecular marker that when expressed in high amounts is linked to the later development of ALL and is associated with poorer outcomes.
The research is a significant step forward for early diagnosis, prevention and new treatment options for ALL – offering new hope for families.
Led by the International Agency for Research on Cancer (IARC), researchers used blood samples taken at birth to trace cancer risk back to prenatal origins.
This innovative approach uses a part of our biology called the “epigenome”- a set of switches that sits on top of our DNA, turning genes on or off to control how cells behave. It can change over time in response to our environment, affecting health and development.
Traditionally, most childhood cancer research focuses on samples collected after a diagnosis, but these “epigenetic markers” were detectable in blood samples taken at birth (either from routine neonatal heel pricks or cord blood when available) and later observed in children who went on to develop ALL.
Perkins researcher Dilys Lam said they were pleased to have contributed to such an important study.
“These results stem from a major international collaboration that brings together top expertise in epidemiology, clinical cancer research, and laboratory science,” Dilys said.
“Being able to detect childhood leukemia at birth could revolutionise preventive care and open doors to personalised treatment options for children.”
The study also showed that DNA methylation markers, which do not involve changes in the DNA itself and are potentially reversible, also relate to patient outcomes and survival, highlighting potential new methods for targeted treatment.
The findings of this research were reproducible using different technologies, tissue types, across three continents and in two ethnicities.
While further investigation is needed, these findings have the potential to shape future health outcomes for children worldwide.
