A genomic study of chronic blood cancer - a precursor to leukaemia - has discovered gene mutations that could enable diagnosis using only a blood test, avoiding the need for an invasive and painful bone marrow biopsy.
Researchers at the Wellcome Trust Sanger Institute identified the SF3B1 gene as being frequently mutated in myelodysplasia, one of the most common forms of blood cancer. Myelodysplasia is particularly prevalent among people over the age of 60, and often the only symptom is anaemia, which makes it a challenge to give a positive diagnosis. Patients with mutations in the SF3B1 gene frequently had a specific abnormality of red blood cells in their bone marrow, called ring sideroblasts.
The findings have significant potential for clinical benefit, as the disease is often under-diagnosed. It is hoped that patients will soon be able to be screened for mutations in the SF3B1 gene through a single blood test.
"This discovery illustrates the promise of genome sequencing in cancer," says Dr Elli Papaemmanuil, lead author from the Sanger Institute. "We believe that by identifying SF3B1, and working to characterize the underlying biology of this disease, we will be able to build improved diagnosis and treatment protocols.
"Significantly, our analysis showed that patients with the SF3B1 mutation had a better overall chance of survival compared to those without the mutation. This suggests that the SF3B1 mutations drive a more benign form of myelodysplasia."
In order to piece together the genomic architecture of myelodysplasia, the team sequenced all genes in the genome of nine patients with the disease. To their surprise, six had mutations in the SF3B1 gene. To expand their analysis, the researchers sequenced the SF3B1 gene in 2,087 samples across many common cancers.
In myelodysplasia, SF3B1 mutations were found in 20.3 per cent of all patients, and in 65 per cent of those patients with ring sideroblasts, m
|Contact: Don Powell|
Wellcome Trust Sanger Institute