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

Toll-Free: 866.320.4573

Call Us Toll Free:

866.223.2273 x1234

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 http://my.clevelandclinic.org/disorders/myelodysplastic/bm_overview.aspx.

About Cleveland Clinic

Cleveland Clinic is a nonprofit multispecialty academic medical center that integrates clinical and hospital care with research and education. Located in Cleveland, Ohio, it was founded in 1921 by four renowned physicians with a vision of providing outstanding patient care based upon the principles of cooperation, compassion and innovation. Cleveland Clinic has pioneered many medical breakthroughs, including coronary artery bypass surgery and the first face transplant in the United States. U.S.News & World Report consistently names Cleveland Clinic as one of the nation’s best hospitals in its annual “America’s Best Hospitals” survey. About 2,800 full-time salaried physicians and researchers and 11,000 nurses represent 120 medical specialties and subspecialties. Cleveland Clinic Health System includes a main campus near downtown Cleveland, eight community hospitals and 18 Family Health Centers in Northeast Ohio, Cleveland Clinic Florida, the Lou Ruvo Center for Brain Health in Las Vegas, Cleveland Clinic Canada, and opening in 2013, Cleveland Clinic Abu Dhabi. In 2010, there were 4 million visits throughout the Cleveland Clinic health system and 167,000 hospital admissions. Patients came for treatment from every state and from more than 100 countries. Visit us at www.clevelandclinic.org.  Follow us at www.twitter.com/ClevelandClinic.

Media Contact:

Stephanie A. Jansky, 216.636.5869, janskys@ccf.org

Cleveland Clinic Mobile Site