Understanding Myelodysplastic Syndromes: Symptoms, Diagnosis, and Treatment Near You at RCCA
Myelodysplastic syndromes (MDS) are a rare category of blood cancers. They range from mild to severe, with advanced cases causing significant reductions in blood cell counts and complications including anemia, immune system dysfunction, and bleeding disorders. Further, MDS can progress to acute myeloid leukemia (AML).
Patients with MDS should be treated by a hematologist-oncologist. Regional Cancer Care Associates (RCCA) is one of the nation’s largest networks of hematology and oncology specialists, with more than 20 offices in New Jersey, Connecticut, Massachusetts, and the Washington, D.C., area. We offer treatment for all types of benign blood disorders and blood cancers, including myelodysplastic syndromes, with cutting-edge options and specialist care.
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Key Takeaways
- Myelodysplastic syndromes (MDS) are low-grade blood cancers that prevent stem cells from maturing into fully functional blood cells.
- Myelodysplastic syndromes are categorized based on the genetic mutations involved, visible cell abnormalities, what types of blood cells are affected, and risk level.
- Symptoms of MDS vary between patients but may include fatigue, shortness of breath, pallor, easy bruising, frequent nosebleeds, dots under the skin, and frequent infections.
- Treatment options for MDS include watchful waiting; supportive care with transfusions and other interventions; medical management with immunotherapy, targeted therapy, chemotherapy, and other agents; and stem cell transplantation.
What Are Myelodysplastic Syndromes?
Myelodysplastic syndromes (MDS) are a category of bone marrow failure disorders. The bone marrow produces blood stem cells — immature cells that become fully developed blood cells over time. In a healthy patient, blood stem cells can become multiple types of blood cells:
- Red blood cells, which carry oxygen and nutrients to all tissues in the body
- Platelets, which form blood clots to stop bleeding
- White blood cells, which hunt intruders to fight infection and disease
In patients with MDS, the stem cells do not mature correctly. Instead, they become immature blood cells called blasts. The blood and bone marrow fill with faulty cells that cannot perform their normal functions, leaving less room for healthy red blood, white blood, and platelet cells.
Is MDS Cancer?
Yes, myelodysplastic syndromes are considered a type of blood cancer. They are caused by DNA changes in cells, similar to other cancers. They can also transform into leukemia. In about 30% of cases, MDS progresses to acute myeloid leukemia (AML), an aggressive type of blood cancer.
How Common Is MDS?
MDS is rare, affecting between 60,000 and 170,000 people in the United States. What causes MDS in a particular patient is not always known. However, the condition has been tied to several risk factors, including:
- Older age
- Past treatment with chemotherapy or radiation therapy
- Exposure to carcinogens in tobacco smoke, pesticides, and fertilizers
- Exposure to heavy metals, such as mercury and lead
- Certain genetic disorders
- Family history of MDS
Risk factors increase a person’s likelihood of developing MDS, but they are not guarantees that any individual will get MDS.
What Are the MDS Subtypes?
Myelodysplastic syndromes are categorized into one of several subtypes based on how the cells appear under a microscope. Factors considered for categorization include how many types of blood cells are affected, how many blasts are present, and specific genetic changes. The subtypes include:
- Single lineage dysplasia (MDS-SLD): Only one type of blood cell appears abnormal or has a low count.
- Multilineage dysplasia (MDS-MLD): Two or more types of blood cells have low counts or look abnormal in the bone marrow. Most MDS cases are multilineage.
- Ring sideroblasts (MDS-RS): In this form of MDS, red blood cells feature abnormal rings of iron that are visible under a microscope.
- Excess blasts (MDS-EB-1 and MDS-EB-2): The blood has a higher percentage of immature cells. These subtypes have a higher chance of turning into leukemia.
- Isolated del(5q): Part of chromosome 5 is missing. This subtype has a lower chance of becoming leukemia, and it also responds well to lenalidomide immunotherapy.
- MDS/MPN overlap syndromes (CMML and JMML): The MDS also has characteristics of a myeloproliferative neoplasm (MPN).
Identifying the cancer subtype is essential to planning how best to treat MDS. Certain subtypes are more responsive to specific treatments than others, helping hematologists-oncologists determine which approach is most likely to help a particular patient.
What Is MDS Risk Stratification?
In addition to subtype, myelodysplastic syndromes are given an IPSS-R score. The Revised International Prognostic Scoring System (IPSS-R) is a widely used system for predicting the outlook for a patient with MDS and determining the person’s risk for developing leukemia. The score is calculated based on five factors:
- Number of immature blasts
- Number of red blood cells
- Number of white blood cells
- Number of platelets
- Cytogenetics (cell molecular traits)
These factors are used to sort MDS cases into a very-low-, low-, intermediate-, high-, or very-high-risk category. The higher the score, the more likely MDS is to progress to leukemia. This information tells hematologists whether aggressive treatments are appropriate and helps them provide a prognosis.
|
Risk Category: |
IPSS-R Score: |
Median Survival: |
Treatment Approach: |
|
Very low |
Under 1.5 |
8.8 years |
Watchful waiting; transfusions as needed |
|
Low |
1.5-3 |
5.3 years |
Supportive care |
|
Intermediate |
3-4.5 |
3 years |
Supportive care |
|
High |
4.5-6 |
1.6 years |
Stem cell transplantation |
|
Very high |
Over 6 |
0.8 years |
Stem cell transplantation |
A newer prognostic tool, called the Molecular International Prognostic Scoring System, or IPSS-M, incorporates additional information on genetic abnormalities to further refine patient prognosis and treatment planning.
What Are the Symptoms of MDS?
Myelodysplastic syndromes usually do not cause symptoms at first. Many cases are identified from the results of a routine blood test or screening for an unrelated condition. Symptoms develop slowly and depend on which types of blood cells are affected:
Anemia Symptoms
Anemia occurs when a person does not have enough properly functioning red blood cells. In such cases, the body lacks sufficient “vehicles” (the red blood cells) to transport oxygen and nutrients to different tissues and organs, causing symptoms such as:
- Fatigue (persistent weakness or tiredness)
- Shortness of breath
- Feeling dizzy or lightheaded
- Pale or clammy skin
Anemia is the most common finding in MDS, with almost all cases of blood cancer causing some anemic symptoms.
Thrombocytopenia Symptoms
Thrombocytopenia refers to a low platelet count. Platelets are cell fragments that form clots to prevent bleeding. With too few platelets, the body cannot stop bleeding externally or internally. Patients experience symptoms such as:
- Easy bruising
- Prolonged bleeding from cuts
- Frequent nosebleeds
- Bleeding gums
- Petechiae (red dots under the skin)
- Unusually heavy menstrual periods
Neutropenia Symptoms
Neutropenia refers to an abnormally low white blood cell count. It reduces the body’s ability to fight infections. Patients get sick easily, and they stay sick for longer than normal. They may also get infections that don’t respond well to antibiotics.
How Is MDS Diagnosed?
Physicians follow a thorough process to detect and diagnose MDS. Each successive test provides more information about the patient’s condition, helping the physician recommend the best treatment. While not every patient follows the same diagnosis process, most individuals can expect the following steps:
Complete Blood Count
A complete blood count (CBC) is often the first clue that a patient has MDS. A CBC involves testing a blood sample to determine how many of each type of blood cell are present. If any cell types are abnormally low, the physician will conduct further tests to determine the cause.
Peripheral Blood Smear
A peripheral blood smear is a procedure to count different types of blood cells and see whether any look abnormal. The test involves taking a blood sample and smearing it onto a microscope slide. The smear is examined under a microscope to look for abnormal cells or blasts.
Bone Marrow Biopsy
A bone marrow biopsy provides a conclusive diagnosis. The physician inserts a hollow needle through the skin and into the hip or breastbone to extract a small amount of bone marrow. The sample is sent to a medical laboratory, where it is viewed under a microscope to look for abnormal cells. By measuring the blast percentage, pathologists can confirm whether the patient has MDS or leukemia.
Cytogenetics
Finally, the bone marrow sample is tested for genetic and molecular changes. Certain MDS mutations make the MDS more responsive to specific therapies. For example, an SF3B1 mutation is considered favorable in terms of treatment outcomes, while TP53 and RUNX1 mutations are adverse and may make treatment more challenging.
How Is MDS Treated?
Patients with myelodysplastic syndromes have multiple treatment options. The best choice for a given patient depends on numerous factors, including the MDS subtype, risk category, and molecular traits. The patient’s overall health and treatment tolerance are also considered.
Watchful Waiting
Not all patients need to start treatment right away. Watchful waiting is a type of active surveillance recommended for very-low and low-risk MDS. The patient and his or her hematologist set up a monitoring schedule for regular tests. Treatment can begin if and when the MDS evolves into a higher risk category.
Supportive Care
For low- to medium-risk MDS, supportive care may be recommended. This treatment approach focuses on alleviating symptoms to prevent complications and improve the patient’s quality of life. Supportive care options include:
- Transfusions: Red blood cell and platelet transfusions supplement the patient’s own cell count with cells from a donor.
- Erythropoiesis-stimulating agents (ESAs): ESAs are laboratory-made proteins that stimulate the bone marrow to make more red blood cells. They include G-CSF, epoetin alfa, and darbepoetin alfa.
- Antibiotics: These medications may also be prescribed for patients who struggle with frequent infections due to their neutropenia.
Medical Treatment
Several types of medical therapies also are used to manage MDS, including:
- Lenalidomide: Used for del(5q) MDS, this immunotherapy drug enhances immune system activity to target blood cells with specific chromosome deletion mutations.
- Hypomethylating agents: These lower-intensity chemotherapy drugs reactivate genes that repress tumors, helping bone marrow cells mature normally. They include decitabine and azacitidine.
- Targeted therapy: These medications act specifically on cells affected by a mutations driving MDS, such as IDH1 or NPM1.
Stem Cell Transplantation
For high-risk MDS, stem cell transplantation may be recommended. This procedure replaces unhealthy bone marrow with healthy stem cells from a donor, renewing the body’s ability to produce mature blood cells. While stem cell transplantation is the only curative option for MDS, it is also a demanding procedure. It is only recommended for healthy patients who can withstand the potentially intense side effects.
Get Myelodysplastic Syndrome Care Near You in NJ, CT, MA, and the Washington, D.C., Area
With the appropriate care, patients with myelodysplastic syndromes can maintain a high quality of life while managing their cancer. Regional Cancer Care Associates treats MDS at more than 20 locations near you across New Jersey, Connecticut, Massachusetts, and the Washington, D.C., area, so patients don’t need to travel to access cutting-edge therapies. Contact RCCA today to learn more or to schedule an appointment.
Frequently Asked Questions About Myelodysplastic Syndromes
What is a myelodysplastic syndrome?
A myelodysplastic syndrome is a type of blood cancer that occurs when cells in the bone marrow cannot mature completely. The marrow produces immature blood cells, called blasts, that do not work the way they should. This leaves less room for healthy blood cells to form.
Is MDS the same as leukemia?
MDS and leukemia are different disorders. MDS prevents blood cells from maturing properly. Leukemia, on the other hand, causes immature blood cells to reproduce uncontrollably. However, MDS can be considered a precursor to leukemia, and some cases of MDS may transform into leukemia.
How are myelodysplastic syndromes diagnosed?
MDS is usually detected with blood tests and a physical examination. Many cases are detected with routine blood panels before they start causing symptoms. If MDS is suspected, a bone marrow biopsy is used to confirm the diagnosis.
Is MDS curable?
Yes, MDS can be cured with a bone marrow transplant. This treatment is not recommended for all patients. For those who cannot or choose not to receive a transplant, MDS can be effectively managed with active monitoring, supportive care, and medication. Many patients maintain a high quality of life while living with MDS.
Who is a candidate for stem cell transplant in MDS?
Good candidates for stem cell transplantation are patients with higher-risk MDS. The treatment is also considered when other treatments stop working. Stem cell transplantation is an intense treatment with potentially serious side effects, so it is most often recommended for young, otherwise-healthy individuals.
What is the IPSS-R score for MDS?
The Revised International Prognostic Scoring System (IPSS-R) is a tool that considers a patient’s blast count, red blood cell count, platelet count, white blood cell count, and cytogenetics to provide a score that reflects the patient’s outlook and risk for progressing to leukemia. Hematologists look at this score, along with other factors, when formulating individualized treatment plans for their patients.
What is azacitidine and how does it treat MDS?
Azacitidine is a chemotherapy drug used to treat MDS. It is a hypomethylating agent, meaning that it activates genes that help blood cells mature. This lets immature blasts develop into functional blood cells. The drug also kills cells that are dividing rapidly, lowering the chance that MDS will progress to leukemia.
What is del(5q) MDS?
Del(5q) MDS is a unique type of myelodysplastic syndrome characterized by abnormally large red blood cells, normal or elevated platelet counts, and a low blast count. It is most frequently diagnosed in older adults and has a low chance of developing into leukemia.
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