According to a story from Hematology Advisor, a recent study released in Scientific Reports indicates that gene expression has the potential to predict both primary resistance and treatment response in patients living with the rare disease myelodysplastic syndromes. The only potential cure for this condition is stem cell transplantation, but azacitidine or similar agents can bring down marrow blasts. However, application of azacitidine has been haphazard in the sense that doctors were never certain if a patient would respond or not.
About Myelodysplastic Syndromes (MDS)
Myelodysplastic syndromes are a type of blood cancer in which developing blood cells remain immature and fail to transform into usable blood cells. Risk factors for this disease include exposure to radiation, chemotherapy, benzene, xylene, and Agent Orange. Family history is also a risk, as are certain genetic disorders such as Down syndrome. In an individual case, it is rare for the direct cause to be identified. Myelodysplastic syndromes rarely present with symptoms initially, but it can eventually present with anemia, neutropenia, thrombocytopenia, cell abnormalities, chromosome abnormalities, enlarged spleen and/or liver, easy bleeding and bruising, and infections. The disease also has the potential to evolve into acute myeloid leukemia. Treatment may include bone marrow transplant, stem cell transplant, blood products, and certain chemotherapy agents. Outcomes in this disease ranges widely and can depend on a number of factors. To learn more about myelodysplastic syndromes, click here.
About The Study
The study involved bone marrow samples from a total of 23 patients who had advanced disease. The RNA from these samples was sequenced. 14 of the patients had complete remission after azacitidine treatment, and the others displayed primary resistance to the therapy. The scientists determined that the PFDN2 and UBC genes appeared to be the most important in predicting how a patient would respond.
In those that responded successfully, molecular functions related to apoptosis and the mitochondria were upregulated. In those with primary resistance, genes of the Wnt pathway were upregulated. These factors were also useful in predicting overall prognosis. These findings are another reminder of the increasing importance of genetic testing in cancers in order to determine treatment approaches.
Check out the original study here.
