Researchers Harmonize MDS Classifications Systems

Researchers have utilized a data-driven approach to resolve discrepancies in the World Health Organization and the International Consensus Classification 2022 classifications of myelodysplastic syndromes (MDS), as outlined in a consensus paper published in The Lancet Haematology.

While both systems “enhance diagnostic precision and refine decision-making processes,” discrepancies between the two systems can create inconsistencies in a clinical setting, explained first author Rami Komrokji, MBBS, of the Moffitt Cancer Center, and colleagues.

A panel of expert hematologists, hematopathologists, and data scientists from the International Consortium for Myelodysplastic Syndromes utilized a modified Delphi consensus process “to harmonize morphologically defined categories without a distinct genomic profile.” The panel organized virtual meetings and participated in a two-round survey using an online voting tool.

Nine clusters with distinct genomic features were identified, and the most important cluster included biallelic TP53 inactivation. The second most important cluster included del(5q) MDS, characterized by isolated del(5q) and less than 5% of blast cells in the bone marrow. The third most important cluster included SF3B1-mutated MDS. For this category, the absence of isolated del(5q), del(7q)/-7, abn3q26.2, complex karyotype, RUNX1 mutations, or biallelic TP53 formed the foundation of a harmonized label.

Morphologically defined MDS entities displayed significant genomic heterogeneity. This heterogeneity was “not efficiently captured” by single lineage versus multilineage dysplasia, marrow blasts, hypocellularity, or fibrosis.

In addition, the researchers discovered only a partial overlap in genetic features between MDS with greater than 10% bone marrow and acute myeloid leukemia. MDS with low blasts (< 5%) and increased blasts (≥ 5%) were recognized as disease entities based on results of the survey.

“Our data-driven approach can efficiently [harmonize] current classifications [MDS] and provide a reference for patient management in a real-world setting,” the researchers concluded.

Reference

Komrokji RS, Lanino L, Ball S, et al. Data-driven, harmonised classification system for myelodysplastic syndromes: a consensus paper from the International Consortium for Myelodysplastic Syndromes. Lancet Haematol. 2024. doi:10.1016/S2352-3026(24)00251-5