SF3B1 Mutations Linked to Myelodysplasia

Mutation ID'd more frequently in myelodysplastic syndromes characterized by ring sideroblasts

TUESDAY, Sept. 27 (HealthDay News) -- Recurrent mutations in RNA splicing factor 3B, subunit 1 (SF3B1) are associated with myelodysplastic syndromes, and are more frequent in patients whose disease is characterized by the presence of ring sideroblasts, according to a study published online Sept. 26 in the New England Journal of Medicine to coincide with its presentation at the 2011 European Multidisciplinary Cancer Congress, held Sept. 23 to 27 in Stockholm, Sweden.

Elli Papaemmanuil, Ph.D., from the Wellcome Trust Sanger Institute in Hinxton, U.K., and colleagues sought to identify recurrent somatic point mutations of diagnostic and therapeutic significance in myelodysplastic syndromes. Massively parallel sequencing technology of all protein-coding exons was used to identify mutations in the genome of nine patients with low-grade myelodysplasia. Resequencing of SF3B1 was carried out in 2,087 patients with myeloid or other cancers.

The investigators identified 64 point mutations, including recurrent somatically acquired mutations in SF3B1 in the nine patients. In the follow-up, SF3B1 mutations were observed in 20 percent of the 354 patients with myelodysplasia. These occurred with high frequency among those with disease characterized by ring sideroblasts (65 percent of 82 patients). Mutations were also observed in 1 to 5 percent of patients with other tumor types, but were less deleterious than expected on the basis of chance. SF3B1 mutations correlated with down-regulations of important gene networks such as core mitochondrial pathways. Patients with SF3B1 mutations had longer event-free survival and fewer cytopenias than those without.

"Mutations in SF3B1 implicate abnormalities of messenger RNA splicing in the pathogenesis of myelodysplastic syndromes," the authors write.

Several authors disclosed financial relationships with pharmaceutical and biotechnology companies.

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