Researchers discover gene that is mutated in some blood cancers and predicts better survival

Geneticists have discovered that a gene involved in the modification of ribonucleic acid (RNA) is mutated in a significant proportion of people with a collection of blood cancers called myelodysplastic syndromes (MDS). The researchers found that mutations in the SF3B1 gene tended to be associated with a better prognosis, raising the possibility that patients could be screened for the mutation and their treatment tailored accordingly. Dr. Elli Papaemmanuil told the 2011 European Multidisciplinary Cancer Congress that she and her colleagues found mutations of the SF3B1 gene in 20.3% of MDS patients and that it was closely associated with a particular feature of MDS called ring sideroblasts, which are found in bone marrow. "This is the first time that a close relationship between a mutated gene in MDS and specific feature of the disease has been detected. Mutations were found in about two-thirds (64.6%) of patients whose disease was defined by the presence of ring sideroblasts," says Dr. Papaemmanuil, who is a postdoctoral research fellow working at the Cancer Genome Project at the Wellcome Trust Genome Centre (Cambridge, UK) under the leadership of Dr. Peter Campbell.
"Further analysis showed that patients with the SF3B1 mutation had significantly better overall survival and leukemia-free survival compared to those without the mutation. This suggests that the SF3B1 mutations drive a benign form of MDS. As these mutations can be detected easily in blood samples taken from patients, it may be feasible to identify a group of MDS patients with a benign prognosis who could receive less aggressive treatment -- without recourse to an invasive bone marrow biopsy to look for the presence of ring sideroblasts."
Dr. Papaemmanuil's presentation to the congress coincides with the simultaneous publication of a paper about the research in the New England Journal of Medicine.
MDS are a diverse group of chronic malignancies of the blood. MDS patients often develop severe anemia and require frequent blood transfusions. Their blood cell counts can fall due to progressive bone marrow failure, and, for a subset of patients with MDS, their disease can progress into acute myelogenous leukemia (AML). MDS occur mostly in people aged 60 and over, and, as more people live longer, these syndromes have become the most prevalent myeloid cancer, with an incidence of around 20 cases per 100,000 of the population in the over-70s. Although several genes have been identified as mutated in MDS, all but one are mutated in only 5-15% of cases, and usually at a lower rate in the more benign subtypes of the disease.

**Source: ECCO-the European CanCer Organisation