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†

^*RS are not required for the diagnosis.

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