Genetic discovery will help clinicians identify aggressive versus benign bone tumors
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The first genetic marker for the bone tumour, osteoblastoma, has been discovered by scientists at the Wellcome Sanger Institute and their collaborators. Whole-genome and transcriptome sequencing of human bone tumours revealed that a genetic change that affects the transcription factor, FOS, is a hallmark mutation of osteoblastoma.

The results, published in Nature Communications, will help clinicians correctly distinguish benign osteoblastoma tumours from aggressive osteosarcoma tumours and direct the correct treatment.

Osteoblastoma is the most common benign tumour of the bone, mainly affecting children and adults between the ages of 10 and 25. It is treated by surgical removal of the tumour, however the diagnosis of osteoblastoma can be challenging. Under the microscope, osteoblastoma tumours can look very similar to osteosarcoma, an aggressive form of bone cancer that requires extensive treatment, sometimes including amputation or significant surgery and chemotherapy.

In this new study, scientists from the Wellcome Sanger Institute and their collaborators at the UCL Cancer Institute and Francis Crick Institute discovered a genetic mutation that distinguishes osteoblastoma from osteosarcoma.

The team carried out whole genome and whole transcriptome* sequencing on five osteoblastoma tumours and one osteoid osteoma tumour.

Researchers discovered a mutation that affects FOS, a transcription factor that turns on and off genes to

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