MDS subtype | Commonalities | Differences | |
---|---|---|---|
2022 WHO | ICC | ||
MDS-SF3B1WHO/ICC |
≥1 dysplastic lineage and cytopenia each Blasts: <5% BM, <2% PB Cytogenetics: absence of del(5q), -7/del(7q), or CK Mutations: absence of biallelic TP53 |
Erythroid lineage dysplasia is required Mutations: ≥5% VAF of SF3B1 |
Cytogenetics: absence of abn3q26.2 Mutations: ≥10% VAF of SF3B1, absence of RUNX1 |
MDS-LB-RS with wild-type SF3B1WHO |
Satisfied for MDS-SF3B1WHO except for SF3B1mut ≥15% RS |
Not defined and included in MDS, NOS | |
MDS-biTP53WHO/MDS with mutated TP53ICC |
≥1 dysplastic lineages and cytopenias Blasts: <20% BM and PB Genetics: ≥2 TP53 mutations, or one mutation with evidence of TP53 copy number loss or cnLOH |
Not stated for dysplastic lineage/cytopenia Blasts: 0%–9% BM and PB Genetics: >10% VAF of TP53mut (prerequisite), 2 distinct TP53mut or 1 TP53mut with (1) del(17p) on cytogenetics (2) VAF>50% (3) cnLOH at TP53 locus or (N/A for TP53 locus LOH status) CK often with del(17p) |
|
MDS/AML with mutated TP53ICC |
Not defined Cases with 10–19% blasts and biallelic TP53 inactivation are classified as MDS-biTP53 |
Blasts: 10%–19% BM and PB Any somatic TP53 mutation (VAF>10%) |
Abbreviations: ICC, International Consensus Classification; BM, bone marrow; PB, peripheral blood; CK, complex karyotype; del, deletion; VAF, variant allele frequency; abn, abnormality; LB, low blasts; RS, ring sideroblasts; NOS, not otherwise specified; cn, copy-neutral; LOH, loss of heterozygosity; mut, mutation; N/A, not available.
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