Washington, Sept 27 (ANI): Scientists have discovered gene mutations that could enable diagnosis of chronic blood cancer using only a blood test, making invasive and painful bone marrow biopsy a thing of the past.
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, researchers said.
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 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," he added. (ANI)