Improving cancer detection in young people with neurofibromatosis type 1
Jack Dong, Associate Professor Mimi Berman, Dr Sue-Faye Siow, Tina Gonzalez
Researchers from the Kolling Institute and Royal North Shore Hospital launched Australia’s first study of whole-body screening for young people with neurofibromatosis type 1.
Led by Dr Sue-Faye Siow from the department of clinical genetics, the study was awarded a grant through the Royal North Shore Hospital Campus Research Grants Scheme, and an additional $30,000 in support from the NORTH Foundation. Neurofibromatosis type 1 (NF1) is an inherited condition that affects 1 in 2,500 people. Young adults with the condition face a 20-fold increase in cancer-related mortality, yet there are currently no routine imaging guidelines in Australia. The condition can cause tumours to grow on nerves throughout the body which can cause pain, nerve damage and skin changes. Up to 50 patients aged 18-40 years old are taking part in the research study to assess the feasibility and psychosocial impacts of the whole-body MRI screening program. Dr Siow said their project could be life-changing. “This is the first study of whole-body MRI screening of people with neurofibromatosis type 1 in Australia,” she said.
“We have the opportunity for early detection in this group of young people who have a high cancer risk.
“The project aims to inform national guidelines and significantly improve outcomes through earlier detection and treatment of cancer.” Kolling researchers are partnering with investigators on the research project which is being conducted through the Royal North Shore Neurofibromatosis Clinic. It is a statewide service led by Associate Professor Mimi Berman, in collaboration with national partner Omico. The Royal North Shore Campus Research Grants scheme funds exceptional research to improve standards of care and health outcomes locally and regionally. The scheme has directed more than $10 million to research on the campus over the last 20 years.
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