A new study published in Blood has found different genetic variants of myelodysplastic syndromes (MDS). The most common of these is called SF3B1, which occurs in around 1 in every 5 patients. It also tends to be associated with a less severe form of the condition. Analyzing an international database, 795 patients had this specific mutation and 2,684 did not.
This is the first time that a distinct genetic subtype has been recognized in MDS. It’s a huge deal because a specific, accurate diagnosis means better care. It also means that diagnosis itself is easier.
Before, patient’s bone marrow has to be analyzed. Now, they could be diagnosed with a simple genetic test.
About the Study
The lead author on this study was Luca Malcovati from the University of Pavia Medical School, located in Italy.
It was found that this form of the disease has three distinct features.
- Red blood cells are ineffectively produced
- Patients have a relatively good prognosis
- The improvement of anemia is likely with use of luspatercept.
One of the common features of this specific mutation is that the red blood cells within the bone marrow have an iron ring around the nucleus. This is because the mutation interferes with cells ability to use iron, therefore impairing their ability to produce adequate hemoglobin. This leads to anemia which is the main symptom for this subset of patients.
SF3B1 patients are likely to respond to luspatercept, according to recent trials. This treatment was approved last November and other therapies are in the works for this specific mutation.
Looking Forward
Another amazing thing about this study is that it won’t rely on dissemination to be put into action. That’s because an international working group of MDS experts were all involved in the trials progress. They represent each and every major specialized MDS institution globally.
That means more MDS patients will be able to get a genetic test to examine their subtype, thereby getting the right diagnosis and the best specific care.
You can read more about this study here.
