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Bilaga 4 - Klassifikation av MDS

Tabell 1. Klassifikation enligt WHO 2016 (Arber 2016) [47, 48]

Myelodysplastiska syndrom (MDS)

MDS med unilineär dysplasi

MDS med ringsideroblaster (MDS-RS)

  • MDS-RS med unilineär dysplasi
  • MDS-RS med multilineär dysplasi

MDS med multilineär dysplasi

MDS med överskott av blaster

MDS med isolerad del(5q)

MDS, oklassificerbar

Provisorisk entitet: Refraktär cytopeni i barnaålder

Myeloid neoplasi med germline predisposition


Tabell 2. Klassifikation enligt WHO 2022, 5th edition (Khoury, 2022) [2]

Myelodysplastiskt syndrom (MDS)

MDS with defining genetic abnormalities

  • MDS with low blasts and isolated 5q deletion (MDS-5q)
  • MDS with low blasts and SF3B1 mut (MDS-SF3B1)
  • MDS with biallelic TP53 inactivation (MDS-biTP53)

MDS morphologically defined

  • MDS with low blasts (MDS-LB) (< 5 % BM, < 2 % PB)
  • MDS, hypoplastic (MDS-h)
  • MDS with increased blasts (MDS-IB)
    • MDS-IB1 (5–9 % BM or 2–4 % PB)
    • MDS-IB2 (10–19 % BM or 5–19 % PB or Auer rods)
    • MDS with fibrosis (5–19 % BM or 2–19 % PB)

Childhood myelodysplastic neoplasms (MDS)

  • With low blasts (< 5 % BM, < 2 % PB)
  • With increased blasts (5–9 % BM or 2–19 % PB)


Tabell 3. Klassifikation enligt ICC (Arber 2022) [3]

Myelodysplastiskt syndrom (MDS)

MDS with mutated SF3B1 

MDS with del(5q) 

MDS with mutated TP53 

MDS, not otherwise specified (MDS, NOS)

  • MDS, NOS without dysplasia 
  • MDS, NOS with single lineage dysplasia 
  • MDS, NOS with multilineage dysplasia
  • MDS with fibrosis (5–19 % BM or 2–19 % PB)

Myelodysplastic syndrome with excess blasts (MDS-EB)

  • With low blasts (< 5 % BM, < 2 % PB)
  • With increased blasts (5–9 % BM, or 2–19 % PB)

Myelodysplastic syndrome/acute myeloid leukemia (MDS/AML) 

  • MDS/AML with mutated TP53 
  • MDS/AML with myelodysplasia-related gene mutations 
  • MDS/AML with myelodysplasia-related cytogenetic abnormalities 
  • MDS/AML, myelodysplastic/myeloproliferative neoplasm, unclassifiable