Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts.

ABSTRACT:

Background

Myelodysplastic syndromes are a diverse and common group of chronic hematologic cancers. The identification of new genetic lesions could facilitate new diagnostic and therapeutic strategies.

Methods

We used massively parallel sequencing technology to identify somatically acquired point mutations across all protein-coding exons in the genome in 9 patients with low-grade myelodysplasia. Targeted resequencing of the gene encoding RNA splicing factor 3B, subunit 1 (SF3B1), was also performed in a cohort of 2087 patients with myeloid or other cancers.

Results

We identified 64 point mutations in the 9 patients. Recurrent somatically acquired mutations were identified in SF3B1. Follow-up revealed SF3B1 mutations in 72 of 354 patients (20%) with myelodysplastic syn

SUBMITTER: Papaemmanuil E 

PROVIDER: S-EPMC3322589 | biostudies-literature | 2011 Oct

REPOSITORIES: biostudies-literature