Mutated gene sheds light on blood cancers

When patients are suspected of having a blood-related disorder called myelodysplasia, which can lead to leukemia, doctors perform painful procedures to remove tissue from their bone marrow for diagnostic purposes. Now the discovery of a gene mutation linked to the disease opens the door to potential blood-based tests that could help patients avoid biopsies.

A group from the Welcome Trust Sanger Institute has found that the SF3B1 gene, which plays a role in how genomes send messages to cells, was mutated in cases of myelodysplasia. While this discovery will likely take years to be translated into a practical blood test, this finding uncovers the first genetic link with a key symptom of the disease, abnormal blood cells called ring sideroblasts. The group has published the findings this week in the prestigious New England Journal of Medicine.

Using genetic sequencing, the group found that the gene mutation was present in 6 of 9 patients with myelodysplasia. That finding prompted the researchers to test more than 2,000 samples from patients with a variety of cancers for the mutated gene. They found that the mutation appeared in 20.3% of those with myelodysplasia and 65% of patients with ring sideroblasts. The mutation also showed up as a much lower percentage in samples from patients with a variety of other cancer types.

"This discovery illustrates the promise of genome sequencing in cancer, 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," Dr. Elli Papaemmanuil, lead author from the Sanger Institute, said in a statement. "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."

- here's the release
- check out Cancer Research UK's piece