Table 1.
Molecular classification of myelodysplastic syndromes. MDS del(5q), MDS with isolated deletion of long arm of chromosome 5; MDS-SLD, MDS with single lineage dysplasia; MDS-MLD, MDS with multilineage dysplasia; MDS-RS-SLD, MDS with ring sideroblasts and single lineage dysplasia; MDS-RS-MLD, MDS with ring sideroblasts and multilineage dysplasia; MDS-EB1, MDS with excess of blasts, type 1; MDS-EB2, MDS with excess of blasts, type 2.
| Genomic-Based MDS Category | Clinical and Hematological Features | WHO 2016 MDS Categories | Prognosis | ||
|---|---|---|---|---|---|
| MDS associated with splicing gene mutations | SF3B1-related MDS | MDS with isolated SF3B1 mutations (or associated with mutations of clonal hematopoiesis and/or JAK/STAT pathways genes) | - Peripheral blood: isolated anemia, normal to high platelet count - Bone marrow: single or multilineage dysplasia, ring sideroblasts, low percentage of bone marrow blasts |
MDS-RS-SLD; MDS-RS-MLD |
Very good prognosis |
| MDS with SF3B1 and co existing mutations (including RUNX1, ASXL1) | - Peripheral blood: anemia, mild neutropenia, thrombocytopenia - Bone marrow: multilineage dysplasia, ring sideroblasts, excess blasts |
MDS-RS-MLD, MDS-EB1, MDS-EB2 |
Good prognosis (less favourable as compared to MDS with isolated SF3B1) | ||
| SRSF2-related MDS | MDS with SRSF2 and concomitant TET2 mutations | - Peripheral blood: single cytopenia (anemia in most cases), higher monocyte absolute count - Bone marrow: multilineage dysplasia, excess blasts |
MDS-MLD, MDS-EB1, MDS-EB2 |
Worse prognosis with respect to SF3B1-related groups | |
| MDS with SRSF2 mutations and co-existing mutations in other genes (ASXL1, RUNX1, IDH2, and EZH2) | - Peripheral blood: two or more cytopenias - Bone marrow: multilineage dysplasia, excess blasts |
MDS-EB2 | Poor prognosis (Worse prognosis with respect to MDS with SRSF2 and TET2 mutations) | ||
| U2AF1-related MDS | MDS with U2AF1 mutations associated with deletion of chromosome 20q, and/or abnormalities of chromosome 7 | - Peripheral blood: severe transfusion-dependent anemia - Bone marrow: multilineage dysplasia, excess blasts |
MDS-MLD, MDS-EB1, MDS-EB2 |
Poor prognosis | |
| MDS with TP53 mutations and/or complex karyotype | - Peripheral blood: two or more cytopenias with transfusion-dependency - Bone marrow: excess blasts |
MDS-EB1, MDS-EB2 |
Very poor prognosis, high rate of leukemic evolution | ||
| MDS with AML-like mutations (DNMT3A, NPM1, IDH1, RUNX1) | - Peripheral blood: two or more cytopenias with transfusion dependency - Bone marrow: excess blasts |
MDS-EB1, MDS-EB2 |
Poor prognosis, high rate of leukemic evolution | ||
| MDS without specific genomic profiles | - Peripheral blood: asympotmatic anemia - Bone marrow: normal to reduced bone marrow cellularity, no ring sideroblasts, low percentage of marrow blasts |
MDS-SLD; MDS-MLD |
Good prognosis | ||
| MDS del(5q) | MDS with isolated 5q, with none or one mutation (excluding TP53) | - Peripheral blood: mild anemia without transfusion dependency -Bone marrow: multilineage dysplasia, low percentage of bone marrow blasts |
MDS del(5q) | Good prognosis | |
| MDS with isolated 5q with two or more mutations or TP53 mutations | - Peripheral blood: mild anemia - Bone marrow: multilineage dysplasia, no excess blast |
MDS del(5q) | Worse prognosis and higher rate of leukemic evolution with respect to MDS del(5q) with none or one mutation |