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Myelodysplastic Syndromes (MDS)

Overview

Myelodysplastic syndromes (MDS) are a group of blood cancers in which bone marrow does not produce enough healthy blood cells. Instead, marrow stem cells form poorly developed or dysfunctional red cells, white cells, and/or platelets.

This leads to chronic cytopenias, risk of infections, bleeding, anemia‑related fatigue, and, in some patients, progression to acute myeloid leukemia (AML).

MDS is classified within the spectrum of myeloid neoplasms, which require careful diagnosis and individualized treatment.

Causes & Risk Factors

Risk factors for MDS put those in the following groups or with these ailments at an increased risk:

Age >60

(most common risk factor)

Previous chemotherapy or radiation exposure

Exposure to toxic chemicals

especially benzene

Caucasian Men

History of MGUS or other plasma cell disorders

(a minority)

In MDS, bone marrow cells fail to mature properly and often die prematurely, leaving too few healthy circulating cells.

Symptoms

Many people have no symptoms early on. When symptoms develop, they usually relate to the specific blood cell line that is low.

Low Red Blood Cells (Anemia)

  • Fatigue, weakness
  • Shortness of breath
  • Pale skin

Low White Blood Cells (Leukopenia)

  • Frequent or severe infections
  • Fevers

Low Platelets (Thrombocytopenia)

  • Easy bruising or bleeding
  • Petechiae (tiny red or purple skin dots)

Other Possible Symptoms

  • Weight loss
  • Generalized malaise

How MDS is Diagnosed

Blood Tests

  • CBC showing low counts in one or more blood cell lines
  • Additional tests to rule out vitamin deficiencies (B12, folate)

Bone Marrow Aspiration & Biopsy

The definitive diagnostic step—marrow is examined for:

  • Dysplasia (abnormal cell development)
  • Percentage of blasts
  • Chromosomal and molecular abnormalities (e.g., del(5q), SF3B1 mutation)

Genetic Testing

FISH or next‑generation sequencing panels help determine prognosis and treatment approach.

Types of MDS

Classifications are based on which blood cells are affected, presence of specific genetic mutations, and blast percentage. Examples include:

MDS with single‑lineage dysplasia

MDS with excess blasts

MDS with SF3B1 mutation

MDS with isolated del(5q)

Some subtypes carry a higher risk of progressing to AML. Around one‑third of patients eventually develop AML.

Treatment Options

Treatment is highly personalized and depends on severity, cytogenetics, symptoms, and risk scores.

  • Blood transfusions for anemia or thrombocytopenia
  • Growth factors (erythropoietin, G‑CSF)
  • Iron chelation in patients requiring ongoing transfusions

  • Hypomethylating agents (azacitidine, decitabine)
  • Lenalidomide (particularly effective in del(5q) MDS)

The only potential cure, recommended for select patients based on age, comorbidities, and high‑risk disease features.

ILCC and national centers offer studies evaluating new therapies (e.g., APR‑246 for TP53‑mutated MDS, novel immunotherapies).

Living With MDS

MDS is a chronic condition for many patients. Management focuses on:

Maintaining quality of life

Preventing infections and bleeding

Monitoring for AML progression

Supportive resources such as oncology social workers, caregiver programs, and patient education workshops are available through national organizations.

When To See Your Provider

Seek medical attention for:

New or worsening fatigue

Fevers or frequent infections

Unusual bruising or bleeding

Shortness of breath

Why Choose Illinois CancerCare

A blood disorder diagnosis can feel overwhelming. At Illinois CancerCare, we are committed to ensuring you never have to face it alone. Providing advanced, comprehensive hematology and oncology care for our patients is at the heart of everything we do. Since 1977, our specialists have focused on individualized, evidence-based treatment plans, access to world-class clinical trials, and thorough follow-up. With Illinois CancerCare, you can move forward with confidence knowing trusted expertise and compassionate support are always close to home.‑based treatment plans, access to world‑class clinical trials, and thorough follow‑up.

Sources & Patient Friendly References

Information sourced from Mayo Clinic, Cleveland Clinic, and NCI (National Cancer Institute).