The International Consensus Classification of myelodysplastic syndromes and related entities

• Published in: Virchows Archiv : an international journal of pathology Vol. 482; no. 1; pp. 39 - 51
• Main Authors: Hasserjian, Robert P., Orazi, Attilio, Orfao, Alberto, Rozman, Maria, Wang, Sa A.
• Format: Journal Article
• Language: English
• Published: Berlin/Heidelberg Springer Berlin Heidelberg 01.01.2023; Springer Nature B.V
• Subjects: Abnormalities; Acute myeloid leukemia; Blood cancer; Chromosome Aberrations; Classification; Consensus; Cytogenetics; Cytopenia; Disorders; Dysplasia; Humans; Leukemia; Leukemia, Myeloid, Acute; Malignancy; Medicine; Medicine & Public Health; Mutation; Myelodysplastic syndrome; Myelodysplastic syndromes; Myelodysplastic Syndromes - diagnosis; Myelodysplastic Syndromes - genetics; Myelodysplastic Syndromes - pathology; Myeloproliferative Disorders; Neoplasms; p53 Protein; Pathology; Review; Clonal cytopenias; International Consensus Classification; Myelodysplastic syndromes; Myeloid neoplasms
• ISSN: 0945-6317; 1432-2307; 1432-2307
• DOI: 10.1007/s00428-022-03417-1

The International Consensus Classification (ICC) of myeloid neoplasms and acute leukemia has updated the classification of myelodysplastic syndromes (MDSs) and placed MDS in a broader group of clonal cytopenias that includes clonal cytopenia of undetermined significance (CCUS) and related entities. Although subject to some interobserver variability and lack of specificity, morphologic dysplasia remains the main feature that distinguishes MDS from other clonal cytopenias and defines MDS as a hematologic malignancy. The ICC has introduced some changes in the definition of MDS whereby some cases categorized as MDS based on cytogenetic abnormalities are now classified as CCUS, while SF3B1 and multi-hit TP53 mutations are now considered to be MDS-defining in a cytopenic patient. The ICC has also recognized several cytogenetic and molecular abnormalities that reclassify some cases of MDS with excess blasts as acute myeloid leukemia (AML) and has introduced a new MDS/AML entity that encompasses cases with 10–19% blasts that lie on the continuum between MDS and AML. Two new genetically defined categories of MDS have been introduced: MDS with mutated SF3B1 and MDS with mutated TP53 , the latter requiring bi-allelic aberrations in the TP53 gene. The entity MDS, unclassifiable has been eliminated. These changes have resulted in an overall simplification of the MDS classification scheme from 8 separate entities (including 1 that was genetically defined) in the revised 4th edition WHO classification to 7 separate entities (including 3 that are genetically defined) in the ICC.