Pediatric cancer: Understanding disease to improve lives

This research is financially supported by Barnekreftforeningen (the Norwegian Childhood Cancer Association), an organisation dedicated to enhancing the lives of children and adolescents with cancer and their families. They support research aimed at advancing diagnosis, treatment, and long-term outcomes for pediatric cancer patients. The gold ribbon is an internationally recognized symbol of childhood cancer awareness, representing the preciousness and strength synonymous with children and their remarkable resilience in facing cancer.

Pediatric cancer, defined as cancer in children and adolescents under 18, is rare. In Norway, it accounts for less than 1% of all cancer cases, with approximately 200 new diagnoses annually. Pediatric cancer includes several main diagnostic groups, each with multiple subtypes, meaning that few children are affected by each specific diagnosis. The most common childhood cancers are leukaemia, lymphoma, and tumours of the central nervous system (brain and spinal cord). Other cancers are classified as solid tumours outside the central nervous system, a broad category that includes bone and soft tissue tumours.

This project focuses on leukaemia and selected solid tumours, including bone and soft tissue tumours, as defined by the World Health Organisation’s current classification. Cancer in children is biologically distinct from cancer in adults, primarily because children’s bodies are still growing and developing. While adult cancers often arise due to accumulated genetic damage over many years, childhood cancers typically originate from stem or progenitor cells, driven by fewer genetic changes, and usually occur without apparent environmental or lifestyle-related causes.

At the molecular level, pediatric cancers show a lower mutational burden, greater epigenetic dysregulation, and a higher prevalence of fusion genes compared to adult cancers. Fusion genes, which form when parts of two different genes merge to create a hybrid gene, can alter normal cellular function. These molecular features affect how cells grow, divide, and mature. In healthy cells, genetic material is well organized and tightly regulated. However, in cancer cells, this organization is disrupted. Changes in DNA, such as the formation of fusion genes, can interfere with essential cellular processes and drive uncontrolled cell growth. Such genetic alterations often crucially impact childhood cancer’s development and response to treatment.

Thanks to major advances in medical care, survival rates for many childhood cancers have improved significantly. However, treatment can be demanding and result in long-term side effects impacting quality of life. Because childhood cancer has distinct biological characteristics, there is a strong need for knowledge that informs diagnosis and treatment tailored specifically for children.

Our project aims to improve understanding of the genetic changes underlying pediatric cancer by using RNA sequencing as the primary high-throughput approach to identify fusion genes and other cancer-driving genetic alterations. By studying tumour tissue at the molecular level, we seek to refine diagnosis, improve disease classification accuracy, and contribute to developing more precise and less invasive treatment strategies. Ultimately, our goal is to support precision diagnostics, ensuring every child receives the correct diagnosis and the optimal treatment as early as possible.

A child receiving a cancer diagnosis is shown together with the parents and a physician, illustrating that childhood cancer affects the entire family. The disease is caused by genetic changes that disrupt normal cellular function.	Example of a fusion gene (FUS::ERG) formed from parts of two different genes abnormally joined, resulting in a new hybrid gene. Fusion genes can disrupt normal cellular function and play an important role in the development of pediatric cancer.

In healthy cells, genetic material is well organized and tightly regulated. In cancer cells, this organization is disrupted, leading to altered gene regulation and uncontrolled cell growth.	Advances in medical care have improved survival rates for many childhood cancers. With more children surviving, there is growing attention on their long-term health, quality of life, and strategies to minimise treatment-related side effects.

RNA sequencing enables detailed analysis of gene expression and the identification of fusion genes and other cancer-driving genetic alterations in tumour cells.	Information obtained from RNA sequencing enables more accurate diagnosis, refines disease classification, and informs treatment decisions tailored to each child’s unique cancer profile.