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The following is a summary of “Data-driven, harmonised classification system for myelodysplastic syndromes: a consensus paper from the International Consortium for Myelodysplastic Syndromes,” published in the October 2024 issue of Hematology by Komrokji et al.
The World Health Organization (WHO) and International Consensus Classification 2022 classifications aim to enhance diagnostic precision and decision-making processes for myelodysplastic syndromes (MDS), yet discrepancies persist in clinical application.
Researchers conducted a retrospective study to harmonize classifications of MDS.
They employed a data-driven approach, investigating genomic features to define harmonized entity labels. An expert panel comprising hematologists, hematopathologists, and data scientists (members of the International Consortium for MDS) participated in a modified Delphi consensus process, which included regular online meetings and a 2-round survey using an online voting tool.
The results showed 9 distinct clusters characterized by genomic features, with the highest hierarchical importance cluster defined by biallelic TP53 inactivation. Cluster assignments were independent of blast count, and individuals with monoallelic TP53 inactivation were assigned to different clusters. The second most important group included myelodysplastic syndromes with del(5q), defined by isolated del(5q) and less than 5% of blast cells in the bone marrow. The third cluster comprised myelodysplastic syndromes with mutated SF3B1, identified by the absence of isolated del(5q), del(7q)/-7, abn3q26.2, complex karyotype, RUNX1 mutations, or biallelic TP53. The study noted considerable genomic heterogeneity in morphologically defined MDS entities, which traditional classifications did not capture effectively.
They concluded that a data-driven approach effectively harmonized classifications of MDS, providing valuable insights for patient management in clinical settings.
Source: thelancet.com/journals/lanhae/article/PIIS2352-3026(24)00251-5/abstract
