Myelodysplastic syndrome (MDS)

Introduction

Myelodysplastic syndrome is a group of clonal disorders characterized by ineffective and dysplastic hematopoiesis.

• Slow progression.
• Mostly appears in older adults (>70).
• The bone marrow hypercellular, but there is pancytopenia.
• Tends to progress to AML.
• Most cases are primary, but can also appear secondary to chemotherapy or ionizing radiation.
• Characterized by distinct mutations in the hematopoietic stem cells, most frequently in genes involved in DNA methylation (TET2, DNMT3A, IDH1/2) and RNA splicing (ASXL1, EZH2).
  • The DNA methylation mutations appear in other malignancies, but the RNA splicing is rare outside of MDS.
  • Transformation of MDS to AML is typical in ASXL1 mutations.

Introduction

Classification

Clinical presentation

Diagnosis

Scoring system

Treatment

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