According to researchers from the Institute of Oncology of the University of Oviedo (IUOPA), the Josep Carreras Leukaemia Research Institute, the University of Barcelona and the Centre for Biomedical Research in Cancer Network (CIBERONC), it has been shown that certain types of childhood leukemia actually begin during embryonic development, even though they may not appear until several months after birth.
Acute myeloid leukemia is the second most common form of leukemia in children and young adults. It is believed that the origin of this disease may begin during the early stages of fetal development. This discovery could have significant implications for understanding the causes of childhood leukemia and potentially developing new treatments.Acute myeloid leukaemia is a type of cancer that affects children and is usually diagnosed within the first few months of life. There has been speculation that this disease could have originated before birth, but it has been difficult to prove because there are no prenatal or birth samples available for study.
Pablo Menéndez, a professor at the University of Barcelona and the Josep Carreras Institute, had the opportunity to investigate the origins of this leukaemia when a five-month-old baby was diagnosed with it at Hospital Niño Jesús in Madrid. The baby’s parents had saved the umbilical cord blood, which provided researchers with a valuable opportunity for study.One of the researchers added that this type of research had not been possible to address until now. The researchers used precision medicine techniques to analyze the complete genome of the tumor. In contrast to tumors in adults, which typically have thousands of mutations, this leukemia only had two chromosomal alterations. Professor Xose S. Puente, from the University of Barcelona, stated that genome analysis allowed them to create a personalized diagnostic method for monitoring the disease. However, these findings have also raised new questions, such as when the tumor initially developed.The researcher emphasizes the challenge of determining the order in which these mutations appeared. This is a difficult question to answer because it requires blood samples from the baby before the diagnosis, which is typically impossible. Fortunately, in this specific case, a frozen umbilical cord sample was available, allowing researchers to isolate different populations of blood cells at birth and investigate whether any of the chromosomal alterations detected in the tumor were already present during fetal development.
The research found that a translocation between chromosome 7 and 12 was already present in some of the haematopoietic cells.This section discusses the presence of two chromosomal alterations in a case of acute myeloid leukemia. The first alteration, a deletion of chromosome 7, was found both in the fetus and in all tumor cells, indicating its potential role in the development of the disease. The second alteration, a trisomy of chromosome 19, was only present in the tumor cells, suggesting its contribution to the increased malignancy of the leukemic cells. The researchers emphasize the importance of the umbilical cord sample in conducting this study, as it was previously impossible to study these specific chromosomal alterations in acute myeloid leukemia. Talía Velasco, a researcher at the Josep Carreras Institute and the University of Barcelona, highlights the significance of these findings for understanding the disease.The study not only focused on reconstructing the genetic changes that lead to leukemia, but it also discovered a previously unknown molecular mechanism in this type of leukemia. This mechanism activates a gene called MNX1, which is frequently altered in this type of tumor. Understanding these changes is crucial for creating models to study the progression of the disease and develop new treatments for these conditions.
The research was headed by Xose S. Puente, a Professor of Biochemistry and Molecular Biology at the University of Oviedo-IUOPA, along with Talía Velas.co and Pablo Menéndez, from the Josep Carreras Institute and the University of Barcelona, along with researchers from the Hospital Infantil Universitario Niño Jesús, the Hospital Universitario Central de Asturias, the Instituto de Biomedicina y Biotecnología de Cantabria, and the Instituto de Investigación Sanitaria La Princesa de Madrid, have collaborated on this research.
The study was made possible through the support of parents and funding from the Ministry of Science, Innovation and Universities, the European Research Council, the AECC Scientific Foundation, the Foundation Unoentrecienmil, and the.”La Caixa” Foundation, the Government of Catalonia, CIBERONC, and the III Health Institute are acknowledged for their contributions.
