Myelodysplastic Syndromes

• What are myelodysplastic syndromes previously referred to as?

  Refractory anemia, smoldering leukemia
• What characterizes myelodysplastic syndromes (MDS)?

  Progressive cytopenias in peripheral blood
• What is a risk associated with myelodysplastic syndromes?

  Transformation into acute myeloid leukemia (AML)
• What does the 2016 WHO classification recognize about MDS?

  Predisposition from germline mutations
• Which inherited bone marrow failure syndromes are at risk for MDS?

  Fanconi anemia, Diamond-Blackfan anemia
• What are the two common morphologic findings in MDS?

  Progressive cytopenias and dyserythropoiesis
• What are the morphologic abnormalities in peripheral blood and bone marrow in MDS?

  • Dyserythropoiesis
  • Dysmyelopoiesis
  • Dysmegakaryopoiesis
• What is the most common finding in dyserythropoiesis?

  Presence of oval macrocytes
• What indicates clonality in dyserythropoiesis?

  Presence of dimorphic red cells
• What abnormal findings are associated with dysmyelopoiesis?

  Abnormal granulation of neutrophils
• What is a common finding in dysmegakaryopoiesis?

  Presence of giant platelets
• What are the differential diagnoses for MDS?

  • Dysplasia
  • Copper deficiency
  • Congenital hematologic disorders
  • Parvovirus B19
  • HIV
• What is required for an acute leukemia diagnosis in the FAB classification?

  At least 30% blasts in the BM
• What are the categories in the French-American-British classification of MDS?

  Refractory anemia, chronic myelomonocytic leukemia
• What is the classification of MDS according to WHO?

  MDS with single lineage dysplasia
• What are the types of myelodysplastic/myeloproliferative neoplasms?

  • Chronic myelomonocytic leukemia (CMML)
  • Atypical chronic myeloid leukemia (aCML)
  • Juvenile myelomonocytic leukemia (JMML)
  • MDS/MPN with ring sideroblasts and thrombocytosis
  • Myelodysplastic/myeloproliferative neoplasms, unclassifiable
• What is a characteristic of chronic myelomonocytic leukemia (CMML)?

  Persistent monocytosis of more than 1.0 x 10^9/L
• What mutation is associated with MDS/MPN with ring sideroblasts and thrombocytosis?

  JAK2 V617F and SF3B1 mutation
• What is the prognosis for patients with low-risk MDS?

  Supportive therapy to overcome BM deficiencies
• What is the only cure for MDS?

  Hematopoietic stem cell transplantation
• What are the prognostic scoring systems used for MDS?

  • International Prognostic Scoring System (IPSS)
  • WHO classification-based Prognostic Scoring System (WPSS)
  • MD Anderson Prognostic Scoring System (MDAPSS)
  • Revised International Prognostic Scoring System (IPSS-R)
• What mutations are associated with poor outcomes in MDS?

  • EZH2
  • ETV6
  • RUNX1
  • ASXL1
• What mutation is associated with positive outcomes in MDS?

  • SF3B1 mutation