Clinical features associated with different MDS/MPN overlap conditions and disorders at the diagnostic boundary with MDS
| . | Median age (y) . | Female/male ratio . | Laboratory features . | Physical features . | Bone marrow features . | ||
|---|---|---|---|---|---|---|---|
| Dysplasia . | Cellularity . | Other . | |||||
| MDS | 70-71 | 1:1.5 | Anemia is the most common cytopenia seen, 25-40% have thrombocytopenia | Hepatosplenomegaly or extramedullary involvement not seen | Present | Hypercellular (10-20% hypocellular) | Dysplasia in ≥1 cell lineage; <20% blasts; 10% may have fibrosis |
| CMML | 65-75 | 1:1.5-3 | Absolute monocyte count ≥1.0 × 109/L, accounting for ≥10% of total WBCs for ≥3 mo | Splenomegaly present in up to half of patients; hepatomegaly and extramedullary involvement (skin, LNs) may be seen | Typically present but not required for diagnosis | Hypercellular | Dysplasia typical in ≥1 cell lineage, but may be absent; <20% blasts |
| MDS/MPN-RS-T | 72-73 | 1:1 | Anemia and platelet count ≥450 × 109/L | Thromboembolism may occur | Present | Hypercellular | ≥15% erythroid precursors with ring sideroblasts; megakaryocytic atypia; <5% blasts |
| aCML | 69-72 | 1:1.5 | WBCs >13 × 109/L, increased dysplastic neutrophils, no or minimal monocytosis and basophilia | Splenomegaly may be present | Present | Hypercellular | Dysplasia in ≥1 cell lineage; <20% blasts |
| JMML | 1-2 | 1:2-3 | Absolute monocyte count ≥1.0 × 109/L accounting for ≥10% of total WBCs for ≥3 mo | Splenomegaly common; monocytic and granulocytic infiltration of LNs, liver, skin, GI tract, and lungs also seen | Present | Hypercellular | <20% blasts |
| sAML | 70-73 | 1:1.5 | Variety of peripheral blood cytopenias may be seen, with or without leukocytosis | Hepatosplenomegaly may be present; infiltration of skin, gingiva, and CNS common in monocytic subtypes | Present | Hypercellular | ≥20% blasts; Auer rods |
| SAA | 50% <50 y old | 1:1 | Pancytopenia | Hepatosplenomegaly is not common; congenital anomalies may suggest an inherited marrow failure syndrome | Absent | Hypocellular | Profoundly hypocellular with all myeloid cell lineages diminished; marrow primarily composed of fat/stroma |
| CCUS | 65-75 | 1:1.5 | Anemia most common; other cytopenias can occur, often isolated | Hepatosplenomegaly or extramedullary involvement not seen | Absent or minimal | Normocellular or hypercellular | Does not meet MDS diagnostic criteria; fewer mutations in MDS genes but with comparable VAF |
| . | Median age (y) . | Female/male ratio . | Laboratory features . | Physical features . | Bone marrow features . | ||
|---|---|---|---|---|---|---|---|
| Dysplasia . | Cellularity . | Other . | |||||
| MDS | 70-71 | 1:1.5 | Anemia is the most common cytopenia seen, 25-40% have thrombocytopenia | Hepatosplenomegaly or extramedullary involvement not seen | Present | Hypercellular (10-20% hypocellular) | Dysplasia in ≥1 cell lineage; <20% blasts; 10% may have fibrosis |
| CMML | 65-75 | 1:1.5-3 | Absolute monocyte count ≥1.0 × 109/L, accounting for ≥10% of total WBCs for ≥3 mo | Splenomegaly present in up to half of patients; hepatomegaly and extramedullary involvement (skin, LNs) may be seen | Typically present but not required for diagnosis | Hypercellular | Dysplasia typical in ≥1 cell lineage, but may be absent; <20% blasts |
| MDS/MPN-RS-T | 72-73 | 1:1 | Anemia and platelet count ≥450 × 109/L | Thromboembolism may occur | Present | Hypercellular | ≥15% erythroid precursors with ring sideroblasts; megakaryocytic atypia; <5% blasts |
| aCML | 69-72 | 1:1.5 | WBCs >13 × 109/L, increased dysplastic neutrophils, no or minimal monocytosis and basophilia | Splenomegaly may be present | Present | Hypercellular | Dysplasia in ≥1 cell lineage; <20% blasts |
| JMML | 1-2 | 1:2-3 | Absolute monocyte count ≥1.0 × 109/L accounting for ≥10% of total WBCs for ≥3 mo | Splenomegaly common; monocytic and granulocytic infiltration of LNs, liver, skin, GI tract, and lungs also seen | Present | Hypercellular | <20% blasts |
| sAML | 70-73 | 1:1.5 | Variety of peripheral blood cytopenias may be seen, with or without leukocytosis | Hepatosplenomegaly may be present; infiltration of skin, gingiva, and CNS common in monocytic subtypes | Present | Hypercellular | ≥20% blasts; Auer rods |
| SAA | 50% <50 y old | 1:1 | Pancytopenia | Hepatosplenomegaly is not common; congenital anomalies may suggest an inherited marrow failure syndrome | Absent | Hypocellular | Profoundly hypocellular with all myeloid cell lineages diminished; marrow primarily composed of fat/stroma |
| CCUS | 65-75 | 1:1.5 | Anemia most common; other cytopenias can occur, often isolated | Hepatosplenomegaly or extramedullary involvement not seen | Absent or minimal | Normocellular or hypercellular | Does not meet MDS diagnostic criteria; fewer mutations in MDS genes but with comparable VAF |
CNS, central nervous system; GI, gastrointestinal; LN, lymph node.