Malign rhabdoid tumours are rare and affect around 35 children a year in Germany, in particular infants and toddlers. Due to the aggressive nature of the disease and the high rate of recurrence in this type of cancer, treatment is often difficult. As there has been no established model of prognosis for these tumours up until now, there has often been a lack of targeted treatment options that consider individual disease progression. The new research results now enable a more precise assessment of the risk and of individually adapted therapies that increase the chances of recovery for young patients.

A thorough molecular analysis was conducted in the study in which the research team analysed the genetic and epigenetic composition of the tumours. Data from a total of 213 patients from the EU-RHAB register was used. Through the analysis of tumour DNA and a modern machine learning process, the team were able to identify three subgroups with different risk profiles: a subgroup with improved chances of survival (“eMRT standard risk”) and two subgroups with increased risk of recurrence. These subgroups should support clinical decision-making by the early identification of high-risk patients. 

Professor Dr med. Pascal Johann, one of the leaders of the study at the University Hospital Augsburg, and professor for experimental paediatrics at the Faculty of Medicine, explains: “Our research results show that clinical as well as genetic factors have a significant influence on disease progression.” Professor Dr Dr med. Michael C. Frühwald, director of the Swabian Children’s Cancer Centre and co-author of the study, adds: “This study represents an important step towards personalised medicine in the treatment of children with malign rhabdoid tumours. Through a better understanding of the risk factors, we want to increase the chances of therapeutic success and the chances of recovery for seriously ill children.”

On behalf of the study, the two first-authors, Victoria E. Finke and Mona Steinbügl, were recently awarded a prize for outstanding scientific publications by the Dr. Wolfbauer-Stiftung in the context of the University Hospital Augsburg’s 2024 Science Day.

In addition to pure research, the University Hospital Augsburg is also running the clinical study EURHAB, which is specifically concerned with the research and treatment of rhabdoid tumours. As a European Assistance Centre for all cases of rhabdoid tumours, the University Hospital Augsburg plays a central role in the further development of individual treatment strategies for this serious disease and is actively committed to the further development of therapeutic options and improvement in the prognosis of affected children.

To the study:

Title: Clinical and Molecular Risk Factors in Extracranial Malignant Rhabdoid Tumors: Toward an Integrated Model of High-Risk Tumors.

Published in: Clinical Cancer Research – AACR Journals

Authors: Victoria E. Fincke1,2, Mona Steinbügl1,2, Hye-Jung E. Chun3, Karolina Nemes1,2, Marlena Mucha1,2, Maurice Loßner1,2, Felix Dorn1,2, Katharina Gastberger1,2, Sebastian Bühner1,2, Martin Sill5, Thomas Kröncke4,5, Reiner Siebert6, Patrick Melchior7, Rhoikos Furtwängler8, Matthias Schlesner9, Christian Vokuhl10, Christoph Röcken11, Pascal D. Johann1,2,5, and Michael C. Frühwald1,2

1 Pediatrics and Adolescent Medicine, Swabian Children’s Cancer Center, University Hospital Augsburg, Augsburg, Germany. 2 Bavarian Cancer Research Center (BZKF), Augsburg, Germany. 3 Department of Biomedical Informatics, Harvard Medical School, Boston, Massachusetts. 4 Department of Diagnostic and Interventional Radiology, University Medical Center Augsburg, Augsburg, Germany. 5 Division of Pediatric Neurooncology, Hopp Children’s Cancer Center (KiTZ) Heidelberg, German Cancer Consortium (DKTK), German Cancer Research Center (DKFZ), Heidelberg, Germany. 6 Institute of Human Genetics, Ulm University and Ulm University Medical Center, Ulm, Germany. 7 Department of Radiation Oncology, Saarland University Hospital, Homburg, Germany. 8 Division of Pediatric Hematology and Oncology, Children’s Hospital, Inselspital Bern University, Bern, Switzerland. 9 Faculty of Applied Computer Sciences, Biomedical Informatics, Data Mining and Data Analytics, University of Augsburg, Augsburg, Germany. 10 Section of Pediatric Pathology, Department of Pathology, University Hospital Bonn, Bonn, Germany. 11 Department of Pathology, Kiel University and University Medical Center Schleswig-Holstein, Kiel, Germany.

Download: http://aacrjournals.org/clincancerres/article-pdf/30/20/4667/3504475/ccr-23-3489.pdf by University of Augsburg user on 19 November 2024