Bersanelli et al divided patients with myelodysplastic syndromes into several genomic groups which correlated with prognosis.
Groups are based on genomic clusters.
Group
Mutation
Other
0
no specific genomic profile
1
SF3B1 and co-existing mutation (ASXL1 and RUNX1)
ring sideroblasts and transfusion-dependent anemia; higher marrow blast percentage; thrombocytopenia
2
TP53 and/or complex karyotype
3
SRSF2 and concomitant TET2 mutation (trisomy 8, other)
single cytopenia; high monocyte count
4
U2AF1 with deletion 20q, isolated del(7q) or chromosome 7 monosomy
transfusion dependent; multi-lineage dysplasia; excess blasts in marrow
5
SRSF2 and co-existing mutations (trisomy 8, other)
genes include ASZL1, RUNX1, IDH2, and EZH2
6
SF3B1 (isolated or associated with mutations of clonal hematopoiesis and/or mutations of JAK/STAT pathways
ring sideroblasts and transfusion-dependent anemia; low marrow blast percentage; normal or high platelet count
7
AML-like mutations (DNMT3A, NPM1, FLT3, IDH1, RUNX1)
transfusion dependent; 2 or more cytopenias; excess blasts
Groups 1 and 6 had the best post-transplant survival followed by Group 0.
Group 2, 4 and 7 had poor post-transplant survival.
Groups 3 and 5 were intermediate.
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Specialty: Hematology Oncology
