Genetic Mutations In MDS Persist After Progression To Acute Myeloid Leukemia
Published: Apr 10, 2012 11:46 am
Researchers from Washington University in St. Louis recently discovered that nearly all mutations in the bone marrow cells of patients who progressed from myelodysplastic syndromes to acute myeloid leukemia are derived from mutations that previously existed when the patients had myelodysplastic syndromes.
The study investigators believe that their findings will lead to improvements in diagnostic and prognostic abilities. Specifically, they suggest targeting therapies toward early mutations occurring in the myelodysplastic syndromes (MDS) stage.
In MDS, developing blood cells (called blasts) do not properly mature, resulting in ineffective production of functioning blood cells.
According to the study investigators, about one-third of patients with myelodysplastic syndromes progress to acute myeloid leukemia (AML).
In the present study, researchers aimed to define the genetic changes that accompany the progression from MDS to AML, of which, according to the researchers, few are currently known.
The researchers first determined the entire genetic sequence of skin and bone marrow samples from seven patients who had progressed from MDS to AML to identify mutations specific to AML. They found that the samples contained recurrent mutations in 11 genes. Four of the genes had not previously been associated with MDS or AML.
The researchers then determined the genetic sequence of bone marrow samples obtained from each patient during their previous MDS stage. They hoped to determine if mutations associated with MDS persisted after transformation to AML.
Most human cancers are highly clonal, meaning that many cells were derived from one ancestral cell and that mutations persist as the cancer progresses.
They found that the patients always retained the mutations from the MDS stage of their disease. According to the researchers, this finding suggests that MDS and AML are highly clonal cancers.
For more information, please refer to the article in the New England Journal of Medicine (abstract).
- Researchers Identify Genetic Mutation Associated With MDS Progression
- SRSF2 Mutations In MDS Patients May Be Associated With Shorter Survival (EHA 2012)
- Researchers Identify Five Genetic Mutations That Influence Prognosis In Myelodysplastic Syndromes
- Half Of MDS Patients With Chromosome 5 Deletion Also Have Important Genetic Mutations
- SF3B1 Mutation Associated With Better Prognosis In Myelodysplastic Syndromes Patients