Nuclei of tumour cells stained with a blue dye and two markers of DNA damage resulting from irradiation. Credit: Dr Susanne Gatz from the ICR's Sarcoma Molecular Pathology Group.

The aim of the Sarcoma Molecular Pathology Group is to identify molecular biomarkers of high-risk sarcomas and therapeutic strategies that will improve the treatment of patients with these sarcomas.

Sarcomas are a heterogeneous group of mesenchymal tumours that frequently exhibit features of differentiating tissues such as striated skeletal muscle (rhabdomyosarcomas) and fat (liposarcoma). They may also have an undifferentiated appearance. Sarcomas account for approximately 15% of cancers in children and adolescents compared with 1% of cancer in adults and are associated with considerable morbidity and mortality.  

Our current research is primarily focused on rhabdomyosarcomas and includes understanding aspects of epigenetic regulation of differentiation and the DNA damage response that may be targeted and incorporated into the treatment of these and other sarcomas.

Previously, we have identified genes involved in testicular germ cell tumour development, including those that predict occult spread and relapse. Other research has led to the identification of rearranged genes, notably those involved in synovial sarcomas, chondrosarcomas, kidney carcinomas and a myeloproliferative disorder.

We have also derived genetic-based approaches to resolve diagnostic dilemmas for the differential diagnosis of small round cell tumours, synovial sarcoma and tumours of germ cell origin. More recently, we demonstrated that the PAX3-FOXO1 fusion gene, rather than alveolar histology, is a key prognostic marker with utility to stratify treatment for rhabdomyosarcoma patients.