Module 2. Diagnosis of MDS

Diagnosis of Myelodysplastic Syndromes (MDS)
How is MDS diagnosed?
Complete blood count
Low blood count: Cytopenia
Symptoms related to low red blood cells
Symptoms related to low white blood cells
Symptoms related to low platelets
Blood cell examination
Bone marrow tests
What happens to bone marrow in MDS?
Is there a screening test for MDS?
Talk to your doctor about your risk for MDS
What are MDS overlap syndromes?
What are MDS overlap syndromes?
How is MDS classified? WHO classification system
How is MDS classified? International  Prognosis Scoring System
How is MDS classified? International Prognosis Scoring System
Summary: Diagnosing MDS

*Please note: This slide show represents a visual interpretation and is not intended to provide, nor substitute as, medical and/or clinical advice.

How is MDS diagnosed?

MDS is diagnosed by laboratory testing, which includes blood cell counts, blood cell examination, and bone marrow tests.

Complete blood count

Your doctor might find MDS if you have low numbers of certain blood cells on a test called a “complete blood count.” This test is commonly done as part of your annual physical examination or general wellness check. Or your doctor might do this test if you are not feeling well.

Low blood count: Cytopenia

A complete blood count measures your levels of red and white blood cells and platelets. When you have too few of some or all of these, doctors call it “cytopenia,” or a “low blood count”.

Symptoms related to low red blood cells

Having too few healthy, mature red blood cells is called “anemia". You might feel tired – from just being a little tired, to feeling completely exhausted. Other symptoms include being pale and having shortness of breath.

Symptoms related to low white blood cells

Having too few normal, mature white blood cells is called “neutropenia". You might get infections and fevers more easily when your white cell count is low.

Symptoms related to low platelets

Platelets are the cells that help your blood clot normally. If you don’t have enough healthy platelets, you might bruise and bleed easily, or have frequent nosebleeds or bleeding gums.

A low platelet count is called “thrombocytopenia".

Blood cell examination

Besides a complete blood count, the laboratory doing the test will look at a sample of blood cells under a microscope. They do this to learn how many normal and abnormal cells are present, which types are abnormal, their shape, and how they look.

This information tells your doctor what type of MDS you have.

Bone marrow tests

If your blood tests show low blood counts, your doctor may recommend that you have a bone marrow examination.

This involves taking a small sample of liquid bone marrow and bone from your hip with a needle. You will have some anesthesia to make you feel more comfortable. A doctor called a pathologist will look at the sample for abnormal cells and DNA changes.

What happens to bone marrow in MDS?

If you have MDS, your bone marrow will show DNA changes, more immature stem cells, or blast cells, than normal, and abnormal cells. Some people with MDS have specific DNA changes, such as abnormal chromosomes or mutations.

Is there a screening test for MDS?

There is no standard screening test for MDS, like a mammogram to check for breast cancer or a colonoscopy for colon cancer.

But if you are at high risk because of past cancer treatment, working with chemicals, or other risk factors, you might need a complete blood count each year.

Talk to your doctor about your risk for MDS

MDS is not contagious and is rarely inherited. However, knowing what type of work you do or used to do, whether you ever had chemotherapy or radiation treatment, and if you lived near a source of chemicals or radiation is important information for your doctor.

What are MDS overlap syndromes?

You should also know about a group of disorders called MDS overlap syndromes. Another name for these bone marrow disorders is MDS-MPN.

These disorders are similar to MDS where some of these disorders have low blood counts, especially low counts of red cells. But in overlap syndromes, white cell or platelet counts may be high.

What are MDS overlap syndromes?

The overlap syndromes that doctors know about now are chronic myelomonocytic leukemia, or CMML; atypical chronic myelogenous leukemia, or aCML; juvenile myelomonocytic leukemia, or JMML; and a disorder that doctors call unclassifiable, or MDS/MPN-U.

How is MDS classified? WHO classification system

The World Health Organization breaks MDS into several types based on the bone marrow exam, blast count, and DNA changes. These classifications can be important for knowing how your MDS may progress.

How is MDS classified? International Prognosis Scoring System

The International Prognosis Scoring System, or IPSS, is another way to classify MDS. A revised version from 2012 is called the IPSS-R.

It gives you a score based on the number of blasts in your bone marrow, what types of abnormalities are present, and what genetic changes you have.

How is MDS classified? International Prognosis Scoring System

The scores match up with risk categories from very low and low to intermediate, high, and very high. Your score tells you about your risks of MDS changing to acute leukemia and your outlook for survival.

Summary: Diagnosing MDS

Diagnosing MDS is not always easy. You may need several different tests to learn the exact type, how severe it is, or whether you have another disorder, such as an overlap syndrome or other blood cancer. But the information your doctor gathers will help determine the best treatment. This will help you live as well as possible even if you are diagnosed with MDS.

Slide Show - Diagnosis of MDS

This slide show describes the tests that doctors use to diagnose myelodysplastic syndromes (MDS), including blood cell counts, blood cell examination, and bone marrow tests. It also describes the symptoms associated with low blood cell counts, MDS overlap syndromes, classification of MDS subtypes, and scoring systems used to estimate the severity of MDS.
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Animation - Diagnosis of MDS
1. Animation - Diagnosis of MDS
Slide Show - Diagnosis of MDS
2. Slide Show - Diagnosis of MDS

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Patient Videos

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This educational activity has been developed by
the Myelodysplastic Syndromes Foundation, Inc and Mechanisms in Medicine Inc.

This activity is supported by charitable grants from Celgene Corporation, Jazz Pharmaceuticals, Novartis, and Takeda Oncology.

This website is part of the Animated Patient™ series developed by Mechanisms in Medicine Inc., to provide highly visual formats of learning for patients to improve their understanding, make informed decisions, and partner with their health care professionals for optimal outcomes.