Table 1. World Health Organization Classification and Defining Features of Myelodysplastic Neoplasms (MDS)a

ClassificationBlastsCytogeneticsVariants
MDS with defining genetic abnormalities:
MDS with low blasts and isolated 5q deletion (MDS-5q)<5% BM and <2% PB5q deletion alone, or with 1 other abnormality other than monosomy 7 or 7q deletion
MDS with low blasts and SF3B1 variantb (MDS-SF3B1)Absence of 5q deletion, monosomy 7, or complex karyotype SF3B1
MDS with biallelic TP53 inactivation (MDS-biTP53)<20% BM and PBUsually complexTwo or more TP53 variants, or 1 TP53 variant with evidence of TP53 copy number loss or cnLOH
MDS, morphologically defined:
MDS with low blasts (MDS-LB)<5% BM and <2% PB
MDS, hypoplasticc (MDS-h)
MDS with increased blasts (MDS-IB):
             MDS-IB15%–9% BM or 2%–4% PB
              MDS-IB210%–19% BM or 5%–19% PB or Auer rods
           MDS with fibrosis (MDS-f)5%–19% BM; 2%–19% PB
Childhood MDS (cMDS):
cMDS with low blasts (cMDS-LB):
cMDS-LB, hypoplastic <5% BM and <2% PB
cMDS-LB, not otherwise specified
cMDS with increased blasts (cMDS-IB)5%–19% BM and 2%–19% PB
BM = bone marrow; cnLOH = copy neutral loss of heterozygosity; PB = peripheral blood.
aCredit: Adapted from Khoury, J.D., Solary, E., Abla, O. et al. The 5th edition of the World Health Organization Classification of Haematolymphoid Tumours: Myeloid and Histiocytic/Dendritic Neoplasms. Leukemia 36, 1703–1719 (2022). https://doi​.org/10.1038​/s41375-022-01613-1.[12] This is an open access article distributed under the terms of the Creative Commons CC BY license, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
bDetection of ≥15% ring sideroblasts may substitute for SF3B1 variant. Acceptable related terminology: MDS with low blasts and ring sideroblasts.
cBy definition, ≤25% bone marrow cellularity, age adjusted.

From: Childhood Myelodysplastic Neoplasms Treatment (PDQ®)

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PDQ Cancer Information Summaries [Internet].
Bethesda (MD): National Cancer Institute (US); 2002-.

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