Diagnostic criteria for myelodysplastic/myeloproliferative neoplasm with SF3B1 mutation and thrombocytosis (MDS/MPN-T-SF3B1)
Thrombocytosis, with platelet count ≥ 450 × 109/L |
Anemia (threshold same as for MDS) |
Blasts < 1% in blood and < 5% in bone marrow |
Presence of SF3B1 mutation (VAF > 10%), isolated or associated with abnormal cytogenetics and/or other myeloid neoplasm associated mutations |
No history of recent cytotoxic or growth factor therapy that could explain the myelodysplastic/myeloproliferative features |
No BCR::ABL1 or genetic abnormalities of myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase gene fusions; no t(3;3)(q21.3;q26.2), inv(3)(q21.3q26.2), or del(5q)* |
No history of MPN, MDS, or other myelodysplastic/myeloproliferative neoplasm |
Thrombocytosis, with platelet count ≥ 450 × 109/L |
Anemia (threshold same as for MDS) |
Blasts < 1% in blood and < 5% in bone marrow |
Presence of SF3B1 mutation (VAF > 10%), isolated or associated with abnormal cytogenetics and/or other myeloid neoplasm associated mutations |
No history of recent cytotoxic or growth factor therapy that could explain the myelodysplastic/myeloproliferative features |
No BCR::ABL1 or genetic abnormalities of myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase gene fusions; no t(3;3)(q21.3;q26.2), inv(3)(q21.3q26.2), or del(5q)* |
No history of MPN, MDS, or other myelodysplastic/myeloproliferative neoplasm |
In a case that otherwise meets the diagnostic criteria for myelodysplastic syndrome with del(5q).