Around 70 children are diagnosed with rhabdomyosarcoma every year in the UK. It is a cancer that is difficult to treat and remains a major cause of death from cancer in childhood, with little progress having been made in recent decades. The aim of this project is to take forward a new approach to the treatment of this disease.

Project Details

  • Project Title

    The genetics of familial leukaemia

  • Lead Researcher

    Dr Janet Shipley

  • Research Centre

    The Institute of Cancer Research

  • City & Institution Postcode

    London, SM2 5NG

  • Start Date

    7 January 2013

  • Duration

    39 months

  • Grant Amount


20190621 CWC UCL HiRes LoRes087


Rhabdomyosarcoma (RMS) is the most common type of soft tissue sarcoma to occur in childhood, with around 70 new cases every year in the UK. RMS resembles primitive muscle cells and can occur in almost any part of the body but most commonly develops in the head and neck, the bladder or the testes. RMS is a difficult cancer to treat, particularly in children with disease that has recurred or has spread to other parts of the body. There has been no significant increase in survival in the last three decades, despite rigorous clinical trials. Attention has recently focused on a type of protein known as Fibroblast Growth Factors (FGFs). FGFs are involved in various cell functions and their actions are mediated by FGF receptors on the surface of cells. Clinical investigations in a range of adult cancers, looking at the effects of blocking these receptors, using drugs known as FGFR inhibitors have shown great promise. No clinical testing in children has so far been carried out


Around 70 children are diagnosed with acute myeloid leukaemia (AML) every year in the UK. AML is not usually a hereditary disease. For most patients with AML, their family members have no higher risk than anyone else. However reports have been published of multiple cases of AML developing in some families at a rate higher than predicted by chance alone. New technology – known as high throughput genome sequencing – enables rapid analysis of our genetic sequence and allows the identification of abnormalities, or ‘mutations’, in the genetic make-up of individuals. Dr Fitzgibbon and colleagues are making use of this technology to answer specific questions about the genetics of leukaemia. In 2004 they were the first to report mutations in a gene called CEBPA in a family with AML. Since then they have created a repository of rare familial cases of AML and a related disease called myelodysplasia (MDS). They have also now reported inherited mutations in two further genes – RUNX1 and GATA2.

Project description

Dr Janet Shipley is the Team Leader of the Sarcoma Molecular Pathology Team at the Institute of Cancer Research in London. She is an internationally recognised expert in paediatric RMS and is working closely with clinical colleagues at the Royal Marsden Hospital and national and European RMS study groups to take this work forward. Work carried out in Dr Shipley’s laboratory suggests that FGF receptors are a promising treatment target in RMS. Pharmaceutical companies have drugs that inhibit FGF receptors – known as FGFR inhibitors – at various stages of pre-clinical and clinical development. The project team has carefully selected four such FGFR inhibitors to undergo pre-clinical investigation in laboratory models of RMS. This work will enable them to select the best, most appropriate inhibitor to take forward to clinical trial in children. ‘Dr Shipley is an internationally recognised expert in paediatric rhabdomyosarcoma and has assembled an outstanding research team.’ Independent reviewer.

What difference will this project make?

No real improvement in survival rates for RMS have been seen in the last three decades and new treatment approaches are desperately needed. This work will enable Dr Shipley to select and take forward a new drug into clinical trials for testing in young patients with RMS. Ultimately, the hope is that this work will result in the adoption of a new, more effective drug into the standard treatment of patients with RMS to save patients that are failed by existing therapies. * this project is being funded in collaboration with Great Ormond Street Hospital Children’s Charity, with each charity contributing 50% of the total cost of £227,368. Soft tissue sarcomas Ross Anderton

About the Research Team

Dr Jude Fitzgibbon, Dr Matthew Smith, Dr David Taussig, Dr Jamie Cavenagh & Dr Claude Chelala, Dr Elia Stupka, Queen Mary University London/ Barts Cancer Institute; Dr Alison Male, Great Ormond Street Hospital for Children; Dr Carolyn Owen, University of Calgary.
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