A conversation with Dr. Aric Parnes, MD, Harvard Medical School
Moderated by Dr. Anton Titov, MD

What Is Myelodysplastic Syndrome (MDS)?

Myelodysplastic Syndrome (MDS) is a group of disorders caused by poorly functioning bone marrow stem cells. Sometimes referred to as a bone marrow failure disorder, MDS leads to ineffective blood cell production and a range of serious complications.

The term “myelodysplastic” breaks down into:
- Myelo- = bone marrow
- Dysplasia = abnormal development

MDS is considered a syndrome because it includes multiple disease processes and remains incompletely understood.

Who is at Risk?

Incidence increases with age, especially in patients over 60.

Risk factors may include prior chemotherapy or radiation therapy, exposure to toxins (e.g., benzene), and genetic predispositions.

Why Bone Marrow Biopsy Is Essential

Dr. Aric Parnes emphasizes: “You absolutely need a bone marrow biopsy to diagnose MDS.”

While peripheral blood smears may show low counts, they rarely provide a definitive diagnosis.

Under the microscope, doctors look for dysplasia—abnormally shaped or sized blood cells—within the marrow itself.

How MDS Affects the Body

MDS typically results in pancytopenia—a deficiency of all three major blood cell lines:

- Red Blood Cells (RBCs): Carry oxygen → Fatigue, shortness of breath, dizziness

- White Blood Cells (WBCs): Fight infections → Frequent infections

- Platelets (PLTs): Help blood clot → Easy bruising, bleeding

Prognosis: Predicting MDS Progression and Survival

Modern MDS care relies on sophisticated prognostic scoring systems, incorporating:

- Blood counts
- Bone marrow characteristics
- Genetic mutations

These tools help estimate the risk of progression to acute myeloid leukemia (AML) and guide treatment planning.

Genetic Testing and the “Rapid Heme Panel”

The Rapid Heme Panel is a cutting-edge test analyzing 95 genetic mutations common in blood disorders.

It provides faster, more precise diagnoses than traditional cytogenetics (karyotype testing).

Why It Matters:
- Identifies mutations that affect prognosis
- Enables targeted therapies
- Helps determine risk of leukemia transformation

First-Line Treatment: Supportive Care and Growth Factors

Initial treatment often includes supportive care, such as:
- Red blood cell transfusions for anemia
- Platelet transfusions for bleeding

Hematopoietic Growth Factors:
- Erythropoietin (EPO): boosts red blood cell count
- G-CSF: stimulates white blood cell production
- Thrombopoietin Receptor Agonists: Romiplostim, Eltrombopag

Second-Line Treatment: Hypomethylating Agents and Chemotherapy

When supportive care is no longer sufficient, therapy escalates to disease-modifying drugs.

Hypomethylating Agents:
1. Azacitidine (Vidaza)
2. Decitabine (Dacogen)
Administered as monthly IV infusions, well tolerated.

Targeted Therapy for Specific Mutations: Lenalidomide and del(5q)

One of the most dramatic examples of personalized MDS therapy involves patients with a 5q deletion:

- Lenalidomide (Revlimid): an oral immune-modulating drug

This therapy often leads to transfusion independence and durable remission.

The Promise of Precision Medicine in MDS

MDS care is entering the precision medicine era, defined by:

- Personalized treatment based on genetics
- Predictive tools to forecast disease course
- Preventive strategies
- Participatory decision-making with patients

The Role of Medical Second Opinion

A second opinion can:
- Verify diagnosis
- Review bone marrow/genetic findings
- Offer expert treatment planning
- Update prognosis

Looking Ahead: More Treatments on the Horizon

Only 3 FDA-approved agents are commonly used in MDS today.

Future therapies will target additional mutations with combination regimens and new drug classes.

Conclusion: A Hopeful Outlook for MDS Patients

Thanks to advanced genetic testing, targeted therapies, and better understanding of disease biology, many patients with MDS live longer, with improved quality of life and personalized care plans.

Watch the Full Interview

Dr. Aric Parnes (Harvard Medical School) speaks with Dr. Anton Titov about the evolving landscape of myelodysplastic syndrome diagnosis, treatment, and prognosis.