Myelodysplastic Syndrome (MDS)

Diagnosing Myelodysplastic Syndromes (MDS)

Myelodysplastic syndromes (MDS), also called myelodysplastic neoplasms, is one of the most complex blood cancers to diagnose, because it can look like many other things first — like fatigue, anemia, or frequent infections. That’s why having the right specialists who really understand this type of cancer specifically makes all the difference.  

The WashU Medicine physicians at Siteman Cancer Center are trained to recognize what others might miss. They evaluate with precision, identifying the specific type of MDS and disease risk to create individualized treatment plans for every new patient they see. 

What are the symptoms of MDS?

The symptoms of MDS depend on the way it is impacting your blood cells. Patients with MDS may have lower counts of red blood cells, white blood cells, or platelets, which can cause many different issues in the body.  

Low red blood cell count 

When your body doesn’t produce enough red blood cells, it struggles to carry oxygen where it’s needed. This is one of the most common presentations of MDS, and one of the most easily confused with other conditions. 

You might notice: 

• Persistent fatigue or weakness, even with rest 
• Difficulty breathing during normal activity 
• Unusually pale skin 
• Heart palpitations or racing heartbeat 
• Chest discomfort 

Low platelet count (thrombocytopenia) 

Platelets help your blood clot. When levels drop, your body can’t stop bleeding efficiently — even from small injuries. 

You might notice: 

• Easy or unexplained bruising 
• Bleeding that takes longer to stop (nosebleeds, gum bleeding) 
• Tiny red or purple dots under the skin (petechiae) 

Low white blood cell count 

White blood cells are your immune system’s first defense against infections. When MDS reduces your white cell count, your body is less able to fight illness. 

You might notice frequent infections that are hard to shake (sinus, urinary, respiratory) and/or recurring fevers with no obvious cause. 

Patients with MDS might also experience weight loss, bone pain, or a decreased appetite. These symptoms can appear together or separately — which is another reason MDS is so often misread without specialist evaluation. 

How MDS Is Diagnosed: What to Expect 

An MDS diagnosis often starts with bloodwork. The complete blood count (CBC) that your primary care physician orders during your annual physical can show there is a problem with your stem cells. To find a WashU Medicine physician, reach out to one of our care coordinators to set up an appointment.  

If your CBC is not normal or shows concern, your provider might order more tests, refer you to a specialist, or both. Beyond lab work and blood tests, your physician might also order a lymph node biopsy for a more accurate diagnosis. 

Blood tests your physician may order 

Lab work gives your physician a detailed picture of what’s happening in your blood. They might order multiple tests to measure cell counts, examine cell shape and structure, and identify genetic markers.

  

Common blood tests for MDS include: 

• Complete blood count (CBC) 
• Peripheral blood smear 
• Blood chemistry studies 
• Immunophenotyping 
• Flow cytometry and cytogenetic analysis 

Bone marrow biopsy: the most definitive test 

When blood tests suggest MDS, a bone marrow biopsy can confirm it. A physician will numb a small area near your hip bone and use a specialized needle to collect a bone marrow sample. This sample is then evaluated by a pathologist who specializes in diagnosing blood cancer. 

The pathologist examines the cells for signs of MDS and, if found, assigns a risk score to it that will guide your treatment. 

Scoring Myelodysplastic Syndromes (MDS)

Unlike many cancers that are described in stages, MDS is evaluated using a scoring system. A pathologist examines your bone marrow biopsy and assigns a score based on five key factors: 

• Number of blast cells (immature blood cells) 
• Chromosomal changes, if any 
• Red blood cell count 
• White blood cell count 
• Platelet count 

Scores range from very low risk to very high risk. A lower risk score may call for active monitoring, sometimes called “watch-and-wait.” A higher-risk score may lead to targeted therapy or stem cell transplants.  

Pathologists at Siteman Cancer Center have scored hundreds of MDS cases, giving them insight into MDS diagnosis that is more precise and that can directly improve your care plan and patient outcomes.