Scientists have found a genetic predisposition to leukemia in children
Scientists have discovered inherited genetic variants associated with a predisposition to acute leukemia in about one in 20 children from the studied group. In six out of nine cases, the increased risk remained unknown before diagnosis. About how often a genetic predisposition occurs in childhood leukemia, see the Izvestia article.
One in 20 children with leukemia was found to have a genetic predisposition.
Researchers from the Karolinska Institute studied the data of 181 children from Sweden who were recently diagnosed with acute leukemia. To assess a possible hereditary predisposition, the scientists combined three approaches: clinical examination and family history study, genome-wide sequencing and genetic analysis of tumor tissue. The study is published in the journal Nature Communications.
Nine of the 181 children, or about 5%, were found to have genetic variants indicating a hereditary predisposition to leukemia. Six of these children had genetic changes directly related to leukemia, and three had rare gene variants that had previously been associated with solid tumors.
Ann Nordgren, Professor of the Department of Molecular Medicine and Surgery at the Karolinska Institute and head of the study
We have found that a hereditary predisposition to childhood leukemia is relatively rare, but if there is such a predisposition, it can have serious consequences for a particular child.
The genetic risk often went unnoticed.
In six out of nine cases, the increased likelihood of developing cancer was not detected before the child was diagnosed with leukemia. This means that before the onset of the disease, doctors did not have information about the corresponding hereditary predisposition.
The researchers note that it was the combination of different methods that made it possible to detect such variants. In addition to information about the symptoms and family history, the scientists analyzed the entire genome of the participants and examined the tumor tissue separately.
Fulia Taylan, Associate Professor of the Department of Molecular Medicine and Surgery at the Karolinska Institute and the first author of the study
By sequencing the genome of each child and combining a comprehensive clinical assessment with genome-wide sequencing and tumor analysis, we have obtained a complete picture of the prevalence of germinal variants and which genes are involved.
Scientists have discovered several variants of hereditary risk
The genetic findings were not the same for all children. Six participants were found to have changes that are directly related to leukemia. Three more were found to have rare gene variants previously associated with solid tumors.
Thus, the study showed that a hereditary predisposition to childhood leukemia may be associated with different genetic scenarios. However, the authors do not claim that the detected variants explain the occurrence of the disease in each child. In total, children with newly diagnosed acute leukemia participated in the work, and the researchers did not select them based on the presence of previously known signs of hereditary cancer risk.
Genetic analysis has changed the further monitoring of children
After the discovery of a hereditary predisposition, the results of the genetic analysis influenced further medical supervision. Eight children were included in special monitoring programs, and approaches to disease management were changed for four. Bianca Tezi, a clinical geneticist and co-author of the study, emphasized that genetic testing can provide information that is important not only for diagnosis, but also for follow-up of the child.
Bianca Tesi
Our results show that genetic testing can provide clinically important information affecting both treatment and follow-up.
At the same time, the researcher noted the need to take into account the available resources and the need of families for genetic counseling.
The researchers want to test the results on a larger group.
Previous studies have estimated the proportion of children with hematological diseases and a hereditary predisposition to cancer in the range from 4% to 10%. In the new work, the indicator turned out to be slightly lower. Scientists attribute this, among other things, to the specifics of the study: it included all children, regardless of whether there were previously grounds to suspect a hereditary risk.
The authors also pointed out the limitations of their work. The analysis was performed on a pre-determined set of genes, so some genetic causes may have gone unnoticed. The researchers consider it necessary to carry out more extensive work in order to better understand the contribution of hereditary genetic factors to the development of childhood leukemia.
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