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Cleveland Clinic Researchers Determine Role of Genetic Mutation in Development of Myelodysplastic Syndrome

October 18, 2012

Cleveland Clinic researchers have discovered the relationship between the SF3B1 gene and the formation of ring sideroblasts in the development of the blood cancer myelodysplastic syndrome (MDS).

Several genetic mutations are known to be present in MDS – a group of diseases in which the bone marrow does not make enough healthy blood cells. One type of mutation in the SF3B1 gene is responsible for the formation of ring sideroblasts and contributes to the development of MDS, according to new research from Ramon V. Tiu, MD, associate staff physician in the department of Translational Hematology & Oncology Research at Taussig Cancer Institute. The paper was published today in Blood.

The product of SF3B1 is important in a normal bodily process called splicing, whereby RNA is modified after transcription – the creation of a complementary RNA copy of the DNA sequence. This process leads to a protein product that is important in sustaining normal physiologic function.

When the SF3B1 gene is mutated, splicing processes are altered and the formation of ring sideroblasts begins. Ring sideroblasts are an unusual collection of iron around the nucleus of erythroid progenitors, early forms of red blood cells. Patients who exhibit these ring sideroblasts are diagnosed with refractory anemia with ring sideroblasts, a form of MDS.  

“The presence of ring sideroblasts in MDS has baffled clinicians and scientists for years,” said Dr. Tiu. “This study highlights the importance of molecular testing in hematologic cancers like MDS. We are hopeful that this research will lead to the development of new, targeted therapies.” 

About 10 percent to 15 percent of MDS patients have the SF3B1 mutated subtype. Pharmacologic therapies remain limited and patient responses to therapy are temporary.

For more information about MDS, log onto

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