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Primary bone cancer (also known as bone sarcoma) is a type of cancer that forms as a lump (tumour) in bone. The human body contains more than 200 bones and although it is rare, cancer can occur in any part of our bones. As the cancer cells multiply, the affected bone can be weakened, causing swelling, pain and other problems. Tumours may start in the bone (primary cancer) or may start in another part of the body and spread to the bone (secondary cancer). The most common places where bone cancer develops are around the knee, the wrist, the shoulder and the pelvis.

Risk Factors

Age: bone cancer most commonly affects teenagers and young adults, and people over the age of 55. Bone cancer that develops later in life is usually linked to a prior disease of the bone, such as Paget disease.
Radiotherapy: there is a small increased risk of bone cancer for people who’ve had radiotherapy. Radiotherapy sometimes affects bone in the treatment area. The risk is higher for people who had high doses of radiotherapy at a very young age. Most people who’ve had radiotherapy in the past won’t develop a bone cancer.
Other medical conditions: some people who’ve had Paget disease of the bone, fibrous dysplasia or multiple enchondromas are at higher risk of bone cancer.
Genetic factors: most bone cancers aren’t caused by inheriting a faulty gene. However, some inherited conditions, such as Li-Fraumeni syndrome, put people at higher risk. People who have a strong family history of certain types of cancer are also at risk.


Signs and symptoms of bone cancer can include:

  • painful bones and joints – the pain is often worse at night
  • swelling of bones and joints
  • problems with movement
  • susceptibility to fractures.
  • unexplained weight loss
  • tiredness
  • fever and sweating


Diagnosing bone cancer can involve a number of tests, including X-rays and bone scans, to show the exact location and size of the cancer
Bone biopsy: a biopsy is the only sure way to diagnose bone cancer. It involves taking a small sample of cells from the bone and examining them in the laboratory for the presence of cancer cells. If the cells are cancerous, further tests may be done by a pathologist to determine the exact type of cancer.
Magnetic resonance imaging (MRI) scan: MRI scans are similar to a CT scan, but MRI’s use magnetism instead of x-rays to build three-dimensional pictures of your body. These are more commonly being used to investigate possible bone tumours.


Most people with primary bone cancer will need a combination of different treatments. Surgery is the main treatment for most types of bone cancer and can be used to remove the cancer, surrounding bone tissue and nearby lymph nodes. Treatment may also include radiotherapy (x-rays to target and kill the cancer cells) and chemotherapy (anti-cancer drugs). These may be given before surgery, to shrink the cancer, or afterwards to destroy any remaining cancer cells.

Bone cancer (sarcoma) research at the Perkins

Perkins researchers are investigating ways to control sarcoma cell migration and invasion, and the connections between genes that regulate these processes. Our research teams aim to get a better understanding of the connections between different enzymes within normal or healthy cells and sarcoma cells to learn how to treat these cancers more effectively. Recently, Associate Professor Evan Ingley and PhD student Rachel Jones identified a new sarcoma familial risk gene and a gene that hasn’t previously been connected to sarcoma, which could both potentially become candidates for developing targeted treatments.


The Cell Signalling Laboratory

Our Cell Signalling Laboratory has recently identified a new and important regulator of osteosarcoma cell migration and invasion (AFAP1L1: Actin Filament Associating Protein-1-Like-1) that shows a strong association with malignant/metastatic disease. There is great potential for AFAP1L1 to have prognostic and predictive diagnostic applications for metastatic osteosarcoma as well as the possibility of targeting AFAP1L1 for therapeutic benefit in malignant disease.

The cell signalling team now plan to investigate the role of AFAP1L1 in metastatic osteosarcoma through focusing on in vitro and in vivo models of this disease, correlating its activity status with disease progression and identifying regions of AFAP1L1 amenable for potential therapeutic targeting.


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