Blood Research

Semiquantitative comparison of laboratory and genetic features among hMDS, AA, and normo/hypercellular MDS (modified from 117).

Properties Normo/hypercellular MDS hMDS AA
Laboratory features
Cytopenia and macrocytosis + ++ ++
LDH +/- + ++
BM blasts =/+ - --
Associated conditions
PNH clone +/ + ++
LGL clone + ++ +/-
Extrahematologic autoimmunity - ++ +/-
Cytogenetic abnormalities ++ +/- Rare
Somatic mutations
Splicing: SF3B1, SRSF2, U2AF1, ZRSR2 +++ + +/-
DNA methylation: DNMT3A, TET2, IDH1, IDH2 ++ + +/-
Chromatin modification: ASXL1, EZH2, KDM6A ++ + +/-
Cohesin: STAG2 + +/- Rare
Tumor suppressor: TP53 + +/- Rare
Signaling: CBL, FLT3, JAK2, KIT, NRAS, KRAS +/- +/- Rare
Transcription: RUNX1, CEBPA, ETV6, GATA2, NPM1 RUNX1 =/++; others = +/- +/- Rare
Pathogenic germline RTEL1 mutations - +/- +

Abbreviations: AA, aplastic anemia; BM, bone marrow; hMDS, hypoplastic myelodysplastic syndrome; LDH, lactate dehydrogenase; LGL, large granular lymphocytes; MDS, myelodysplastic syndrome; PNH, paroxysmal nocturnal hemoglobinuria.
Blood Res 2021;56:S51~S64 https://doi.org/10.5045/br.2021.2021010
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