HealthTree Community Webinar: Understanding Risk in Myelodysplastic Syndromes (MDS)

Myelodysplastic syndromes (MDS) are diseases that affect the bone marrow, where blood cells are made. Doctors use a process called “risk stratification” to understand how serious a patient’s MDS is and how likely it is to progress. This helps guide treatment decisions and gives patients a clearer picture of what to expect. 

In this article we summarize a recent community event featuring Dr. Rafael Bejar, MDS specialist, who joined the HealthTree MDS community to talk about MDS risk in the genetic era. 

How MDS affects the bone marrow

In MDS, genetic mutations damage the blood cells. Abnormal stem cells grow and crowd out healthy cells, but they do not mature properly. The bone marrow becomes full of cells, but the bloodstream has too few healthy ones. As a result, patients often experience low blood counts, such as anemia, which can cause significant fatigue.

Tracking MDS disease progression

MDS is a dynamic disease, meaning it can change over time as new mutations develop. In some cases, the condition may progress into acute myeloid leukemia (AML), which is a more aggressive type of blood cancer.

To understand how serious the disease is, doctors use a process called "risk stratification." This involves performing a bone marrow biopsy to study the cells directly. They look at three main features:

• The physical appearance of the cells under a microscope.
• Changes in the structure of chromosomes.
• Specific genetic mutations in the DNA.

"MDS is not one disease. It is a collection of diseases that look similar under the microscope but are driven by very different sets of genetic mutations. Our goal now is to use those mutations to move from a 'one-size-fits-all' approach to a more personalized prognosis," said Dr. Bejar.  

The role of genetic mutations in MDS

Advances in genetic testing over the past 20 years have identified dozens of mutations that contribute to MDS. Some mutations can tell doctors important information about the MDS and help plan treatment.

For example, some people with MDS have abnormal cells called "ring sideroblasts." These cells have iron rings and carry a mutation in the SF3B1 gene. Identifying this helps doctors define a specific, often less aggressive, subtype of the disease. On the other hand, mutations in the TP53 gene often signal a more aggressive form of MDS that may require a more intensive treatment approach.

How doctors measure risk

Modern scoring systems, such as the IPSS-M, are the most important tools doctors use today. These systems combine several factors to estimate a patient’s risk level:

1. Blast count: the percentage of "blasts," or immature blood cells, in the bone marrow. Higher counts generally mean a higher risk of progression.
2. Blood counts: the severity of anemia or low platelet levels.
3. Genetics: the specific mutations and chromosome changes found in the biopsy.

During his presentation, Dr. Bejar mentioned: "The beauty of the new Molecular IPSS (IPSS-M) is that it doesn’t just look at how many blasts or what your blood counts are. It looks at the 'blueprints' of the cancer. By including genomic data, we can tell some patients, 'You are actually lower risk than we thought,' or conversely, identify those who need a transplant much sooner." 

Key takeaways for the MDS community

Dr. Bejar emphasizes that we have entered an era where genomic profiling is no longer optional for MDS patients. Understanding the specific mutations (like SF3B1 or TP53) is now the primary driver for determining whether a patient should pursue more intensive treatments like stem cell transplantation or a more conservative approach.

Continue reading New Research Identifies Unique Weaknesses in High-Risk Myelodysplastic Syndromes (MDS)

Watch the full event with Dr. Bejar and join the HealthTree MDS Community for more free events. 

Watch the recording