Myelodysplastic Syndromes (MDS)
Emily Serata
Background
- MDS is a malignant group of hematopoietic stem cell disorders characterized by ineffective hematopoiesis leading to >1 peripheral cytopenias and bone marrow dysplasia.
- Usually idiopathic, a disease of the elderly (median onset at age 70).
Presentation
- 50% asymptomatic; symptoms can include nonspecific but gradual fatigue, weakness.
- Dysplastic cells do not work properly àinfections (neutropenia), bleeding (thrombocytopenia).
- Macrocytic anemia is most common finding; followed by bicytopenia or pancytopenia.
- Isolated neutropenia or thrombocytopenia are unusual but possible.
- Ask about secondary causes such as nutritional deficits.
- Exposure to chemicals (benzene, crude oil/gasoline industry, cigarette smoke), chemotherapy, radiation increase risk.
- Medications, alcohol use, chronic infections (HIV).
Evaluation
- Goal is to rule out reversible causes of dysplasia and cytopenias.
- CBC w/differential, peripheral smear, B12, folate, HIV, Copper, Zinc, CMP, LDH, TSH.
- Dysplastic changes on peripheral smear: bilobed neutrophils, hypo granulated platelets, dysplasia, and macrocytosis of RBCs.
- Final diagnosis requires bone marrow biopsy. >20% blasts in marrow = AML. Thus, MDS and AML are on a continuum.
Management
- Overall goal: alleviate MDS-related symptoms and prolong survival.
- IPSS-M Risk Calculator determines risk score – clinical, cytogenetics, molecular data – divides into lower-risk MDS and higher-risk MDS.
- Lower-risk MDS: Asymptomatic: monitoring (no benefit of early treatment) vs. Symptomatic: Treatment based on severity of cytopenias (transfusions/growth factors) + chemotherapy agent.
- Higher-risk MDS: treated with hypomethylating agents vs. induction chemotherapy and allogenic hematopoietic cell transplantation (best chance for cure).
- Clinical trials are often the best therapy to offer a high-risk patient.
