Research on new sarcoma type honoured
In 2024, the Working Group of Medical Oncology (AIO) of the German Cancer Society will award its Science Prize to Christoph Heilig from the Division of Translational Medical Oncology at the German Cancer Research Center (DKFZ) and the NCT Heidelberg. The physician is receiving the award for a publication that presents the findings of an interdisciplinary team on a recently discovered sarcoma type and highlights therapeutic options.
The National Center for Tumour Diseases (NCT) Heidelberg is a joint institution of the German Cancer Research Center (DKFZ), the University Hospital Heidelberg (UKHD), the Medical Faculty of the University of Heidelberg and the Thorax Hospital Heidelberg.
Soft tissue sarcomas are a molecularly heterogeneous group of connective tissue tumours that often affect young people. The clinical course varies greatly, ranging from slow progression to very aggressive and metastatic. The range of available drug therapies is not satisfactory: the standard therapy for most sarcoma types uses a substance that has been known for over 50 years in the first line.
Researchers at the DKFZ and NCT Heidelberg have studied a sarcoma subtype from the group of rhabdomyosarcomas in which the TFCP2 gene is fused with two different partner genes. This tumour type, first described in 2018, mainly affects younger adults and children; only about 50 cases have been described so far. Most patients died despite intensive multimodal therapy.
The study included molecular analyses of tumour tissue and clinical data from twelve patients, as well as extensive functional investigations. The researchers had identified the patients in the precision oncology programmes DKFZ/NCT/DKTK MASTER and INFORM. It was found that rhabdomyosarcomas with TFCP2 fusions can be more readily classified as undifferentiated sarcomas and have specific molecular characteristics that indicate new treatment options beyond chemotherapy. For example, certain inhibitors can be used as targeted drugs.
The cross-site and interdisciplinary collaboration between laboratory, bioinformatics and clinic played a particularly important role in the success of the study. Christoph Heilig says: ‘Our study shows that we can generate insights into the classification, pathogenesis and therapy of under-researched, ultra-rare entities by combining clinical precision oncology and preclinical basic research.’
The result of the interdisciplinary study is recognised by the award that has now been presented: The German Cancer Society's Working Group on Medical Oncology (AIO) has awarded its 2024 Science Prize to Christoph Heilig for his work on rhabdomyosarcomas with TFCP2 fusion.
‘We are studying an extremely rare disease that has only been known for a few years. The fact that we have found a dozen cases so far is thanks to the nationwide network of the DKFZ/NCT/DKTK MASTER programme and our colleagues from the INFORM programme,’ says Christoph Heilig. Rare cancers together account for a quarter of all cancers and thus affect a large number of patients. However, their relative rarity in relation to a type of cancer makes research difficult and often prevents the results of this research from being translated into better therapies.
Stefan Fröhling, Managing Director at the NCT Heidelberg and Head of Translational Medical Oncology at the DKFZ, and Claudia Scholl, Head of Applied Functional Genomics at the DKFZ, are the principal investigators of the study. Stefan Fröhling says: ‘This project is an outstanding example of “reverse translation”, i.e. the path from clinical observations to basic research. Through the molecular investigation of sarcoma diseases that are particularly difficult to treat in MASTER, Christoph Heilig was able to identify patients with this extraordinary disease and describe their characteristic molecular profiles.’ Claudia Scholl adds: ‘He then sought contact with us laboratory scientists and the bioinformaticians to investigate the molecular pathogenesis of this disease. The results of this preclinical work can now be fed back into the clinic and will help improve the treatment of this aggressive disease in the future.’
MASTER: Molecularly Aided Stratification for Tumor Eradication Research
INFORM: INdividualized Therapy FOr Relapsed Malignancies in Childhood
Publication:
Julia Schöpf*, Sebastian Uhrig*, Christoph E. Heilig*, Kwang-Seok Lee*, Tatjana Walther, Alexander Carazzato, Anna Maria Dobberkau, Dieter Weichenhan, Christoph Plass, Mark Hartmann, Gaurav D. Diwan, Zunamys Carrero, Claudia R. Ball, Tobias Hohl, Thomas Kindler, Patricia Rudolph-Hähnel, Dominic Helm, Martin Schneider, Anna Nilsson, Ingrid Øra, Roland Imle, Ana Banito, Robert B. Russell, Barbara C. Jones, Daniel B. Lipka, Hanno Glimm, Daniel Hübschmann, Wolfgang Hartmann, Stefan Fröhling#, Claudia Scholl#: Multi-Omic and Functional Analysis for Classification and Therapeutic Targeting of Sarcomas with FUS-TFCP2 or EWSR1-TFCP2 Fusions; Nature Communications, doi: 10.1038/s41467-023-44360-2. *: equal contribution; #: equal contribution
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AIO Chair Prof. Anke Reinacher-Schick, Dr. Christoph E. Heilig and Prof. Dr. Florian Haller (from left to right)
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The National Center for Tumor Diseases (NCT) Heidelberg
The National Center for Tumor Diseases (NCT) Heidelberg is a joint institution of the German Cancer Research Center, Heidelberg University Hospital and German Cancer Aid. The NCT's goal is to link promising approaches from cancer research with patient care from diagnosis to treatment, aftercare and prevention. The interdisciplinary tumor outpatient clinic is the central element of the NCT. Here the patients benefit from an individual treatment plan prepared in a timely manner in interdisciplinary expert rounds, the so-called tumor boards. Participation in clinical studies provides access to innovative therapies. The NCT thereby acts as a pioneering platform that translates novel research results from the laboratory into clinical practice. The NCT cooperates with self-help groups and supports them in their work. The pediatric oncologists at the KiTZ work together in joint structures with the NCT Heidelberg.
German Cancer Research Center (DKFZ)
With more than 3,000 employees, the German Cancer Research Center (Deutsches Krebsforschungszentrum, DKFZ) is Germany’s largest biomedical research institute. DKFZ scientists identify cancer risk factors, investigate how cancer progresses and develop new cancer prevention strategies. They are also developing new methods to diagnose tumors more precisely and treat cancer patients more successfully. The DKFZ's Cancer Information Service (KID) provides patients, interested citizens and experts with individual answers to questions relating to cancer.
To transfer promising approaches from cancer research to the clinic and thus improve the prognosis of cancer patients, the DKFZ cooperates with excellent research institutions and university hospitals throughout Germany:
- National Center for Tumor Diseases (NCT, 6 sites)
- German Cancer Consortium (DKTK, 8 sites)
- Hopp Children's Cancer Center (KiTZ) Heidelberg
- Helmholtz Institute for Translational Oncology (HI-TRON Mainz) - A Helmholtz Institute of the DKFZ
- DKFZ-Hector Cancer Institute at the University Medical Center Mannheim
- National Cancer Prevention Center (jointly with German Cancer Aid)
The DKFZ is 90 percent financed by the Federal Ministry of Education and Research and 10 percent by the state of Baden-Württemberg. The DKFZ is a member of the Helmholtz Association of German Research Centers.
Heidelberg University Hospital and Faculty of Medicine: Internationally Renowned Patient Care, Research and Teaching
Heidelberg University Hospital (Universitätsklinikum Heidelberg, UKHD) is one of the largest and most prestigious medical centers in Germany. The Medical Faculty of Heidelberg University (Medizinische Fakultät Heidelberg, MFHD) belongs to the internationally renowned biomedical research institutions in Europe. Both institutions have the common goal of developing new therapies and implementing them rapidly for patients. Heidelberg University Hospital and the Medical Faculty of Heidelberg University employs around 14.500 employees and is committed to providing trainings and qualifications. Every year, around 86,000 patients and more than 1.100.000 outpatient cases are treated in more than 50 clinical departments with almost 2.500 beds.
Together with the German Cancer Research Center (Deutsches Krebsforschungszentrum, DKFZ) and the German Cancer Aid, the UKHD established the first National Center for Tumor Diseases (NCT) in Heidelberg. The goal is to provide care at the highest level as an oncology center of excellence and to rapidly transfer promising approaches from cancer research to the hospital. In addition, the UKHD operates in partnership with the DKFZ and the University of Heidelberg the Hopp Children’s Cancer center Heidelberg (KiTZ), a unique and nationally known therapy and research center for oncological and hematological diseases in children and adolescents.
The Heidelberg Curriculum Medicinale (HeiCuMed) is one of the top medical training programs in Germany. Currently, there are about 4.000 future physicians studying in Heidelberg.