Gene discovery could yield new blood test for myelodysplastic syndromes

In collaboration with the Press Association

Researchers at the Wellcome Trust Sanger Institute in Cambridgeshire have discovered that faults in a gene called SF3B1 are more common among people with myelodysplastic syndromes (MDS) - a group of conditions that affect the bone marrow and blood, and can lead to leukaemia.

The work - published in the New England Journal of Medicine - could ultimately lead to simple diagnosis of the disease using a blood test rather than an uncomfortable bone marrow biopsy.

MDS can develop into leukaemia in some patients. The condition mainly affects the over-60s and is difficult to detect because it has few early symptoms, other than anaemia.

To confirm a diagnosis of MDS, doctors often have to perform a bone marrow biopsy, and look for a hallmark of the disease called 'ring sideroblasts'- abnormal red blood cells in bone marrow.

But the new findings could help scientists develop a single blood test to check for mutations in the SF3B1 gene.

Using 'next-generation' DNA analysis techniques, the researchers sequenced all genes in the genome of nine patients with the disease. Six patients had faults in their SF3B1 gene.

To follow this up, the researchers sequenced the SF3B1 gene in 2,087 samples across many common cancers.

They found SF3B1 faults in 20.3 per cent of all myelodysplasia patients, and in 65 per cent of patients with ring sideroblasts.

This makes SF3B1 one of the most commonly faulty genes linked to this disease.

Lead researcher Dr Elli Papaemmanuil, who works at the Sanger Institute, said: "This discovery illustrates the promise of genome sequencing."

"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."

Peter Campbell from the Sanger Institute added: "Anaemia affects one in 10 people over the age of 65, and we cannot easily find a cause for the anaemia in a third of cases.

"To diagnose myelodysplasia, we often have to resort to an invasive and painful bone marrow biopsy, but we hope this and future genetic insights will provide more straightforward diagnosis for patients through a simple blood test."

Henry Scowcroft, science information manager at Cancer Research UK, said: "Although there's some way to go before this research finding can be translated into a test for myelodysplastic syndromes, it's great to see how initiatives like the International Cancer Genome Consortium (ICGC) are already improving our understanding of different diseases.

"We expect to see more and more discoveries like this over the coming years, as the ICGC and other genetic research programmes start to unearth the genetic faults behind cancer."

Copyright Press Association 2011


  • Papaemmanuil, al (2011). Somatic Mutation in Myelodysplasia with Ring Sideroblasts New England Journal of Medicine DOI: 10.1056/NEJMoa1103283