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December 31, 2024 | Hannover, Germany
For four decades, scientists have been unraveling the genetic mysteries behind childhood and adolescent cancers, a breakthrough that could transform how we understand, treat, and prevent these rare yet devastating diseases. Although cancer remains a leading cause of death among young people, research has consistently shown that genetics play a crucial role in shaping their risk, opening doors to earlier detection and more personalized treatments.
“Understanding the causes of cancer in children and adolescents is essential in order to treat it more effectively, detect it earlier, or even prevent it in the future,” said Prof. Dr. Christian Kratz, Director of the Department of Paediatric Haematology and Oncology at Hannover Medical School (MHH), and a leading figure in this field.
Despite its rarity, childhood cancer is particularly concerning because of the long-term health challenges that survivors face. Many suffer from chronic health problems, which contribute to increased morbidity and mortality rates later in life. Genetic research over the past 40 years has illuminated the link between inherited genetic mutations and an elevated risk of cancer, particularly through the identification of cancer predisposition genes (CPGs).
The Role of Hereditary Diseases
In the early 1980s, researchers first identified the genetic components responsible for increased cancer risks, leading to the discovery of cancer predisposition syndromes (CPS). These include well-known conditions like Li-Fraumeni syndrome and Fanconi anemia. These syndromes are linked to specific gene mutations that predispose individuals to a range of cancers, including leukemia, sarcomas, and brain tumors.
Approximately 10% of children and adolescents diagnosed with cancer carry such hereditary mutations. These gene variants are passed down from parents to offspring, increasing the likelihood of developing cancer at a young age. However, researchers also found that some gene variants emerge during embryonic development, leading to “mosaic diseases,” where both healthy and mutated cells coexist in the body. These mutations can later trigger the onset of cancer in the individual’s life.
The Complex Nature of Genetic Risk
The genetic risk factors for childhood cancer are not limited to rare mutations. In fact, a combination of common genetic variations at multiple gene loci may also contribute to a child’s overall risk. When combined with environmental factors, such as viral infections, these genetic variations may heighten the likelihood of developing cancer.
Prof. Kratz, in a recent review published in Nature Reviews Cancer, explored this intricate web of genetic predisposition in childhood and adolescent cancers. He explained that understanding the precise genetic mechanisms behind these cancers is key to improving treatments and outcomes for young patients.
Looking Ahead: A Future of Early Detection and Prevention
The last 40 years have seen enormous strides in genetic research, with an increasing number of CPGs identified. This knowledge is shaping the future of pediatric oncology, particularly in terms of early detection, better-targeted therapies, and potentially even preventive strategies. Genetic testing for children and adolescents with cancer is becoming more commonplace, enabling doctors to provide individualized care plans that can significantly improve survival rates and quality of life.
As the scientific community continues to investigate the complex genetic underpinnings of childhood cancers, experts like Prof. Kratz remain hopeful that advances in genomics will lead to better outcomes for young patients. By unraveling these genetic causes, doctors may soon be able to predict, prevent, or more effectively treat cancers in children and adolescents—offering new hope for the youngest cancer patients and their families.
For more information, see the full study: Christian P. Kratz, “Re-envisioning genetic predisposition to childhood and adolescent cancers,” Nature Reviews Cancer, 2024, DOI: 10.1038/s41568-024-00775-7.
