'Natural gene therapy' for childhood blood cancer more common than assumed
To better understand the development of a rare type of blood cancer in children, researchers from Freiburg have been conducting intensive research for 18 years and have now published important new findings in Nature Medicine
Rare diseases are difficult to research. This is because most physicians only see a few people affected in their professional lives. At the same time, rare diseases often serve as models for principles in medicine. Scientists from the Faculty of Medicine - University of Freiburg, together with international colleagues, are now showing how important progress in rare diseases is. They have been investigating genetic changes in children with myelodysplastic syndrome, or MDS for short, in an international study that has been running since 1998. The researchers involved showed that around eight percent of those affected have hereditary genetic changes in the SAMD9 or SAMD9L genes, which are the cause of the disease. The gene mutations in SAMD9/SAMD9L lead to growth inhibition of the blood stem cells in the bone marrow. In 61 percent of cases, the researchers were able to show that the stem cells acquire further genetic changes that switch off the diseased gene. In some patients, these additional changes caused the disease to become more aggressive, while in others the diseased gene was successfully silenced and the patients were cured. Scientists can now learn from this type of "natural" gene therapy how the disease could be treated in a targeted manner. The study was published in the renowned journal Nature Medicine on October 7, 2021 and provides an important basis for the development of diagnostic and therapeutic approaches.
"In our study, we were able to show that certain natural genetic changes slow down MDS. In some patients, cancer-promoting and cancer-inhibiting genetic changes also competed for dominance in the cancer cells. This "natural" gene therapy provides us with crucial information on how we could treat and cure patients with an "artificial" gene therapy in the future," says Prof. Dr. Charlotte Niemeyer. The Medical Director of the Department of Pediatric Hematology and Oncology at the Medical Center - University of Freiburg has been leading the European EWOG-MDS study for research into myelodysplastic syndromes (MDS) and juvenile myelomonocytic leukemia (JMML) in children since 1998. The aim of the world's largest pediatric MDS registry is to study the disease in all its facets, from diagnosis to therapy and clinical prognosis. Niemeyer has also driven the project forward as part of the German Consortium for Translational Cancer Research (DKTK).
The investigations into the altered genes lay the foundation for researching and understanding the alteration process in detail in the future. "We want to find out how we can manipulate the corresponding genes," says study leader Dr. Marcin Wlodarski, who began the work at the Medical Center - University of Freiburg and successfully continued it with his research group at St. Jude Children's Hospital in Memphis, USA.
"The study is an excellent example of how basic research and clinical research are intertwined in cutting-edge university medicine. It also shows that staying power is extremely important, especially when researching rare diseases," said Prof. Dr. Lutz Hein, Dean of the Faculty of Medicine - University of Freiburg.
What is myelodysplastic syndrome?
Children with myelodysplastic syndromes (MDS) do not produce enough blood cells in their bone marrow. They therefore have a higher risk of developing leukemia. In many cases, only a stem cell transplant can help the affected children.
Original title of the study: Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes
DOI: 10.1038/s41591-021-01511-6
Link to the study: www.nature.com/articles/s41591-021-01511-6
Contact:
Prof. Dr. Charlotte Niemeyer
Medical Director
Department of Pediatric Hematology and Oncology
Medical Center - University of Freiburg
Phone: 0761 270-45060
charlotte.niemeyer@uniklinik-freiburg.de
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