Proposed diagnostic criteria for the MDS with mutated SF3B1
Cytopenia defined by standard hematologic values |
Somatic SF3B1 mutation |
Isolated erythroid or multilineage dysplasia* |
Bone marrow blasts <5% and peripheral blood blasts <1% |
WHO criteria for MDS with isolated del(5q), MDS/MPN-RS-T or other MDS/MPNs, and primary myelofibrosis or other MPNs are not met |
Normal karyotype or any cytogenetic abnormality other than del(5q); monosomy 7; inv(3) or abnormal 3q26, complex (≥3) |
Any additional somatically mutated gene other than RUNX1 and/or EZH2† |
Cytopenia defined by standard hematologic values |
Somatic SF3B1 mutation |
Isolated erythroid or multilineage dysplasia* |
Bone marrow blasts <5% and peripheral blood blasts <1% |
WHO criteria for MDS with isolated del(5q), MDS/MPN-RS-T or other MDS/MPNs, and primary myelofibrosis or other MPNs are not met |
Normal karyotype or any cytogenetic abnormality other than del(5q); monosomy 7; inv(3) or abnormal 3q26, complex (≥3) |
Any additional somatically mutated gene other than RUNX1 and/or EZH2† |