Table 3.

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 
*

RS are not required for the diagnosis.

Additional JAK2V617F, CALR, or MPL mutations strongly support the diagnosis of MDS/MPN-RS-T.

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