WHO diagnostic criteria MDS/MPN with ring sideroblasts and thrombocytosis
WHO diagnostic criteria MDS/MPN with ring sideroblasts and thrombocytosis
Anemia associated with erythroid lineage dysplasia with or without multilineage dysplasia, ≥15% ring sideroblasts,* <1% blasts in peripheral blood and <5% blasts in the bone marrow
Persistent thrombocytosis with platelet count ≥450 × 109/L
Presence of a SF3B1 mutation or, in the absence of SF3B1 mutation, no history of recent cytotoxic or growth factor therapy that could explain the myelodysplastic/myeloproliferative features¶
No BCR-ABL1 fusion gene, no rearrangement of PDGFRA, PDGFRB, or FGFR1; or PCM1-JAK2; no (3;3)(q21;q26), inv(3)(q21q26) or del(5q)Δ
No preceding history of MPN, MDS (except MDS-RS), or other type of MDS/MPN
Diagnosis of MDS/MPN with ring sideroblasts and thrombocytosis requires all of the criteria listed above.
MDS/MPN: myelodysplastic syndrome/myeloproliferative neoplasm; MDS/MPN-RS-T: myelodysplastic syndrome/myeloproliferative neoplasm with ring sideroblasts and thrombocytosis; MDS: myelodysplastic syndrome; MDS-RS: myelodysplastic syndrome with ring sideroblasts; MPN: myeloproliferative neoplasm * At least 15% ring sideroblasts required even if SF3B1 mutation is detected. ¶ A diagnosis of MDS/MPN-RS-T is strongly supported by the presence of SF3B1 mutation together with a mutation in JAK2 V617F, CALR, or MPL genes. Δ In a case which otherwise fulfills the diagnostic criteria for MDS with isolated del(5q)-no or minimal absolute basophilia; basophils usually <2% of leukocytes.
