Multiple Studies Help Define New Biomarkers for Myelodysplastic Syndromes

According to a story from Medpage Today, three recent research studies have managed to reveal new biomarkers for myelodysplastic syndromes. Biomarkers are a crucial factor for understanding a medical condition or disease. They can serve as critical diagnostic tools when signs and symptoms are too vague for doctors to make an accurate determination. In addition, biomarkers can help doctors make critical decisions about how to administer care.

About Myelodysplastic Syndromes

Myelodysplastic syndromes are a group of cancers which prevent immature blood cells in the bone marrow from maturing. As a result, they do not develop into healthy blood cells. Risk factors for these cancer include prior exposure to radiation or chemotherapy, hereditary disorders such as Down syndrome, and exposure to certain chemicals such as xylene, benzene, Agent Orange, and hydrocarbons. With that said, it is difficult to determine the specific cause in most cases. Symptoms of myelodysplastic syndromes include cellular abnormalities, low blood cell counts, enlarged spleen or liver, infections, bleeding, fatigue, and shortness of breath. The cancer can often evolve into acute myeloid leukemia. Treatment involves chemotherapy with highly specific agents and stem cell transplant. Survival rates vary widely from case to case but averages two and a half years from diagnosis. To learn more about myelodysplastic syndromes, click here.

ACS Specks

One of the biomarkers that the latest research has discovered is called ACS “specks.” These specks are released into the blood plasma after a cell has died. They do not degrade as easily as other cellular residue because they have a distinctive structure. In the research originally published in Lancet Hematology, the researchers found that ACS speck levels were substantially higher in patients with myelodysplastic syndromes and could be used as a valuable diagnostic indicator to distinguish the disease from other illnesses that otherwise present similarly.


Another biomarker which was identified is called miRNA-194-5p. This marker was expressed to a degree that was five times higher compared to the healthy controls, making it a useful diagnostic marker. However, among patients, those with the lower expression had the worst outcomes. Therefore, this biomarker can be a useful prognostic tool. The original study was published in Leukemia Research.

P53 Mutations

Mutations in the p53 gene were also identified as another useful biomarker for determining disease risk. Myelodysplastic syndrome patients with the greatest expression of these mutations were often at the greatest risk for having their cancer transform into acute myeloid leukemia and had lower chances of survival. You can find the original study here.

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