10 June 2024

Spanish researchers have identified how some cases of paediatric acute myeloid leukaemia (AML) may begin to develop in the womb.

The researchers gained a rare opportunity to study the development of the disease in a baby, aged five months, when it emerged the parents had preserved blood from the umbilical cord.

They report finding a chromosomal alteration during foetal development: a translocation between chromosomes 7 and 12 present in the umbilical cord blood stem cells. Another alteration, a trisomy of chromosome 19, was found in tumour cells but not in the umbilical cord blood, and so is likely to have happened after birth.

They have reported their findings in the journal Leukaemia. The researchers also identified a new molecular mechanism activating the gene MNX1, the presumptive ‘driver gene’ of the child’s cancer.

Co-leader of the study Talía Velasco, of the Josep Carreras Institute and the University of Barcelona, said: “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.”

Fellow co-leader, Professor Xose Puente, said: “These data raise new questions, such as when the tumour arose and in what order these mutations have appeared.”


Bousquets-Muñoz P, Molina O, Varela I, Álvarez-Eguiluz Á, Fernández-Mateos J, Gómez A, Sánchez EG, Balbín M, Ruano D, Ramírez-Orellana M, Puente XS, Menéndez P, Velasco-Hernandez T. (2024) “Backtracking NOM1::ETV6 fusion to neonatal pathogenesis of t(7;12) (q36;p13) infant AML.” Leukemia, 28 May 2024, doi: 10.1038/s41375-024-02293-9

Link: https://www.nature.com/articles/s41375-024-02293-9

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