World Cancer Day, February 4th: Childhood cancer – a rare, but devastating diagnosis

St. Anna CCRI scientists and affiliated clinicians (c) Ian Ehm, Gilbert Novy, St. Anna CCRI

(04.02.2021) Childhood Cancer often still lacks awareness. This is not only because people might feel uncomfortable dealing with such a sad topic – like an affected mother told us. It is also due to its rare nature. In fact, pediatric cancer is not a single disease, but rather a number of different rare malignancies, making it difficult to grasp. That is why the highly dedicated scientists of St. Anna Children’s Cancer Research Institute (St. Anna CCRI) strive to identify cancer drivers, paving the way for innovative treatments.

If you are not personally affected, you might thrust aside childhood cancer. Dealing with such a sad topic is uncomfortable. However, as soon as you are affected either as patient or relative, things change completely. As it was the case for a mother, whose son was diagnosed with leukemia last year. The disease not only turned her life upside down, but also let her realize how much affected parents benefit from the research results. "My child lives partly because of you guys”, she tells the scientists. “Research is constantly being carried out, and as a result better therapy protocols and new treatment options are developed." Today she is more aware of this than ever before. The whole interview will be released in our campaign on International Childhood Cancer Day, February 15th.

Pioneer in pediatric oncology research
St. Anna CCRI has been one of the leading research centers in the field of pediatric oncology since 1988. It has been pioneering work in elucidating the causes of cancer development and in improving chances of survival for children and adolescents.

"We have to specifically address the origin, the pathogenesis of cancer in children, if we really want to improve their survival rates," says Eleni Tomazou, PhD, head of the research group Epigenome-based Precision Medicine. Importantly, cancer develops differently in children than in adults. Certain congenital immune defects, for example, can make children susceptible to certain types of cancer - a topic that is addressed by the Scientific Director of St. Anna CCRI, Kaan Boztug, MD. "Only the deep molecular understanding of a disease enables personalized therapy and improves the chances of cure," says Boztug, who also heads the group Immune Deficiency, Cancer Predisposition & Precision Oncology. In a collaborative effort, Kaan Boztug and Sevgi Köstel Bal, MD, PhD, Postdoc at St. Anna CCRI, show how the cure rate of cancer in children with cancer predisposition due to a rare inborn immune defect may be improved (https://bit.ly/2LlokOIhttps://bit.ly/3tennJ7).

Live and let leukemia behind you
Leukemia, the most frequent malignancy in children, is an example of great scientific progress. “We have learned a lot about leukemia throughout the last decades, enabling an improved prognosis for many patients”, says Kaan Boztug. “To cure even more children, deciphering how to control epigenetics opens up completely new possibilities.” Investigating epigenetic mechanisms of gene regulation in pediatric leukemia is the research topic of Davide Seruggia, PhD, who left Harvard to start his own group at St. Anna CCRI. Davide Seruggia received one of the highly desirable ERC Starting Grants to pursue his research. He is convinced that there is a huge potential to apply novel epigenetic findings in childhood cancer treatment and diagnostics.

Another example how research can improve leukemia survival is a study of Christina Peters, MD, affiliated clinician of St. Anna CCRI. In an international trial on acute lymphoblastic leukemia Christina Peters and colleagues show how survival is improved by total body irradiation in children with high risk disease, in need of a stem cell transplantation (https://bit.ly/3rbXIie). As she tells us in a video statement, Christina Peters envisions that innovative therapies – like CAR-T cells – in the future render the burden of transplantation avoidable. Do not miss the full video with Christina Peters, which will be released around February 15th, International Childhood Cancer Day.

Low frequency, but high impact for patients
In contrast to leukemia, other pediatric malignancies were not even known until a few years ago. One example is Langerhans cell histiocytosis (LCH), a very rare disease for which the first treatment protocol was developed in Vienna, together with an American research group. “Children with LCH all over the world who need a therapy, were and still are registered at our institute and are treated according to a protocol that was developed here”, says Caroline Hutter, MD, PhD, who heads the Biology of LCH group at St. Anna CCRI. “When I started my work, LCH was an uncharted field.” Together with colleagues, Caroline Hutter successfully analyzed single cell data of LCH patients to create a map of the disease. “This was the first time that such a tumor was fully disassembled, and we could identify several subgroups of tumor cells in the same tumor (https://bit.ly/3kH1MDR).” With this important knowledge, Caroline Hutter’s work goes on. “We still know far too little. But I like the tricky part of research: solving puzzles.”