Myelodysplastic Syndromes¶

Peter Hanna

Background¶

MDS is a malignant clonal myeloid disorder resulting in ineffective (dysplastic) hematopoiesis leading to peripheral cytopenia’s and a risk of transformation to acute myeloid leukemia (AML)
Usually idiopathic, a disease of the elderly (median onset at age 70)
The WHO has several classification schemes for MDS
- Most important for classification is the percent of blasts in the bone marrow
- Note >20% blasts in marrow = AML. Thus MDS & AML are on a continuum

50% asymptomatic; Symptoms can include nonspecific but gradual fatigue, weakness
Dysplastic cells do not work properly infections and bleeding are more likely
Macrocytic anemia is most common finding; followed by bicytopenia or pancytopenia
Isolated neutropenia or thrombocytopenia are unusual but possible
Ask about secondary causes:
- Exposure to chemicals (benzene, crude oil/gasoline industry, cigarette smoke), chemotherapy, radiation
- Medications, alcohol use, chronic infections (HIV)

Goal is to rule out reversible causes of dysplasia and cytopenias
CBC w/differential, Peripheral Smear, B12, Folate, HIV
May consider Copper & Zinc (send out labs, are expensive and rare but check when MDS is being considered)
Dysplastic changes on peripheral smear: hypogranulated/hyposegmented neutrophils, hypogranulated platelets and macrocytosis of RBCs
Circulating myeloblasts can be seen
Final diagnosis made by Bone marrow Biopsy

Molecular characteristics define the “risk” of the disease and dictates treatments
Prognostic scoring tools: revised international prognostic staging system (R-IPSS)
Management general paradigm:
- Asymptomatic: with low-risk disease = monitoring
- Low-risk disease + symptoms due to anemia only: transfusions, erythrocyte stimulating agents, and treatment with Luspatercept
- MDS with isolated del(5q): treated with lenalidomide
- High-risk patients: treated with hypomethylating agents
- Only curative intervention = hematopoietic stem cell transplant (HSCT)

Last update: 2022-06-25 02:05:01