Barcelona [Spain], Acute myeloid leukemia is the second most prevalent type of acute leukemia in childhood, and can be detected within a few months of life. Early onset of the disease increases the likelihood that the cancer originated before birth. However, this assumption has been difficult to validate due to the lack of prenatal or neonatal samples.
The opportunity to study the origin of this leukemia arose from the case of a five-month-old baby suffering from acute myeloid leukemia at the Nino Jesus Hospital in Madrid,' explained ICREA Professor Pablo Menéndez of the University of Barcelona and Josep Carreras. Institute.
The researcher added, 'The parents who preserved the cord blood opened a line of research that had not been possible to address until now.,
Using precision medicine techniques, the researchers analyzed the tumor's entire genome. Unlike tumors in adults, where thousands of mutations are found, only two chromosomal changes were identified in this leukemia. José S., professor of biochemistry at the University of Barcelona. 'The genome analysis allowed us to design a personalized diagnostic method to monitor the disease,' says Puente. Puente, Professor of Biochemistry and Molecular Biology at the University of Oviedo. 'But these data raise new questions, such as when the tumors arose and in what order these mutations appeared,' he highlighted.These questions are difficult to answer, because such research requires a child's blood sample before diagnosis, which is impossible in most cases. However, in this particular case, the existence of a frozen umbilical cord sample allowed researchers to isolate different populations of blood cells at the time of birth and study whether any chromosomal changes found in the tumor occurred earlier during fetal development. Was present since or not.
The study showed that the translocation between chromosomes 7 and 12 was already present in some hematopoietic stem cells in the umbilical cord. In contrast, the other chromosomal alteration, trisomy of chromosome 19, was not present in the embryos but was found in all tumor cells, suggesting that it contributes to increased lethality of leukemic cells. 'These data are highly relevant to understanding the evolution of a devastating disease, and the existence of this umbilical cord sample was important to be able to conduct a study that was until now impossible in acute myeloid leukemia', says Talia Velasco, researcher. Josep Carreras Institute and the University of Barcelona and co-leader of the study.In addition to reconstructing the genomic changes made by cells to cause this leukemia, the study also identified a molecular mechanism that had not been seen before in this type of leukemia and that causes the activation of a gene called MNX1. , which often occurs in tumors of this type. Knowledge of these changes is essential for developing cell and animal models that allow us to understand disease development and develop new therapies to treat these pathologies.
The study is led by José S. Puente, Professor of Biochemistry and Molecular Biology at the University of Oviedo-IUPA, Talia Velasco and Pablo Menéndez from the Josep Carreras Institute and the University of Barcelona, with the participation of researchers from four other institutions. , which includes the Hospital Infantil Universitario Nino Jesus, the Hospital Universitario Central de Asturias, the Instituto de Biomediciná y Biotecnologia de Cantabria and the Instituto de Investigación Sanitaria la Princesa de Madrid.
This research has been possible due to the support of parents and funding from the Ministry of Science, Innovation and Universities, the European Research Council, the AECC Scientific Foundation, the Foundation Unoentrecenmil, "La Caixa" Foundation, the Government of Catalonia., CIBERONC and III Health Institute.
The opportunity to study the origin of this leukemia arose from the case of a five-month-old baby suffering from acute myeloid leukemia at the Nino Jesus Hospital in Madrid,' explained ICREA Professor Pablo Menéndez of the University of Barcelona and Josep Carreras. Institute.
The researcher added, 'The parents who preserved the cord blood opened a line of research that had not been possible to address until now.,
Using precision medicine techniques, the researchers analyzed the tumor's entire genome. Unlike tumors in adults, where thousands of mutations are found, only two chromosomal changes were identified in this leukemia. José S., professor of biochemistry at the University of Barcelona. 'The genome analysis allowed us to design a personalized diagnostic method to monitor the disease,' says Puente. Puente, Professor of Biochemistry and Molecular Biology at the University of Oviedo. 'But these data raise new questions, such as when the tumors arose and in what order these mutations appeared,' he highlighted.These questions are difficult to answer, because such research requires a child's blood sample before diagnosis, which is impossible in most cases. However, in this particular case, the existence of a frozen umbilical cord sample allowed researchers to isolate different populations of blood cells at the time of birth and study whether any chromosomal changes found in the tumor occurred earlier during fetal development. Was present since or not.
The study showed that the translocation between chromosomes 7 and 12 was already present in some hematopoietic stem cells in the umbilical cord. In contrast, the other chromosomal alteration, trisomy of chromosome 19, was not present in the embryos but was found in all tumor cells, suggesting that it contributes to increased lethality of leukemic cells. 'These data are highly relevant to understanding the evolution of a devastating disease, and the existence of this umbilical cord sample was important to be able to conduct a study that was until now impossible in acute myeloid leukemia', says Talia Velasco, researcher. Josep Carreras Institute and the University of Barcelona and co-leader of the study.In addition to reconstructing the genomic changes made by cells to cause this leukemia, the study also identified a molecular mechanism that had not been seen before in this type of leukemia and that causes the activation of a gene called MNX1. , which often occurs in tumors of this type. Knowledge of these changes is essential for developing cell and animal models that allow us to understand disease development and develop new therapies to treat these pathologies.
The study is led by José S. Puente, Professor of Biochemistry and Molecular Biology at the University of Oviedo-IUPA, Talia Velasco and Pablo Menéndez from the Josep Carreras Institute and the University of Barcelona, with the participation of researchers from four other institutions. , which includes the Hospital Infantil Universitario Nino Jesus, the Hospital Universitario Central de Asturias, the Instituto de Biomediciná y Biotecnologia de Cantabria and the Instituto de Investigación Sanitaria la Princesa de Madrid.
This research has been possible due to the support of parents and funding from the Ministry of Science, Innovation and Universities, the European Research Council, the AECC Scientific Foundation, the Foundation Unoentrecenmil, "La Caixa" Foundation, the Government of Catalonia., CIBERONC and III Health Institute.
