RESEARCHERS have uncovered crucial insights into the development of paediatric acute myeloid leukaemia (AML), revealing that some cases may originate in the womb. This groundbreaking discovery was made possible through the study of a five-month-old baby whose parents had preserved umbilical cord blood.
The research team identified a critical chromosomal alteration occurring during foetal development—a translocation between chromosomes 7 and 12 in the umbilical cord blood stem cells. Additionally, they discovered a trisomy of chromosome 19 in the tumour cells, which was absent in the umbilical cord blood, suggesting it developed post-birth. The study also highlights a new molecular mechanism activating the MNX1 gene, considered the driver gene of the child’s cancer.
Talía Velasco, co-leader of the study from the Josep Carreras Institute and the University of Barcelona, emphasised the significance of these findings: “These data are highly relevant for understanding the development of a devastating disease, and the existence of this umbilical cord sample was crucial to be able for conducting a study that had been impossible until now in acute myeloid leukaemia.”
Professor Xose Puente, a fellow co-leader, noted the broader implications of their discovery, stating, “These data raise new questions, such as when the tumour arose and in what order these mutations have appeared.”
This pioneering research provides a vital foundation for understanding the prenatal origins of AML, potentially guiding future diagnostic and therapeutic approaches. The study underscores the importance of preserving umbilical cord blood, offering unique opportunities for advancing medical research and improving patient outcomes.
Reference
Bousquets-Muñoz P et al. Backtracking NOM1::ETV6 fusion to neonatal pathogenesis of t(7;12) (q36;p13) infant AML. Leukemia. 2024.
