Data-driven, harmonised classification system for myelodysplastic syndromes: a consensus paper from the International Consortium for Myelodysplastic Syndromes.

作者：R. Komrokji, L. Lanino, S. Ball, J. Bewersdorf, Monia Marchetti, G. Maggioni, E. Travaglino, N. Al Ali, P. Fenaux, U. Platzbecker, V. Santini, M. Díez-Campelo, Avani M. Singh, Akriti G Jain, Luis E Aguirre, Sara M. Tinsley-Vance, Zaker I. Schwabkey, O. Chan, Zhouer Xie, Andrew M. Brunner, A. Kuykendall, John M. Bennett, R. Buckstein, Rafael Bejar, H. Carraway, A. Dezern, E. Griffiths, Stephanie Halene, R. Hasserjian, J. Lancet, Alan F. List, S. Loghavi, O. Odenike, E. Padron, Mrinal M Patnaik, G. Roboz, Maximilian Stahl, M. Sekeres, D. Steensma, M. Savona, Justin Taylor, Mina Xu, K. Sweet, D. Sallman, Stephen D. Nimer, Christopher S. Hourigan, Andrew H. Wei, Elisabetta Sauta, S. D'amico, G. Asti, G. Castellani, Mattia Delleani, Alessia Campagna, U. Borate, Guillermo Sanz, F. Efficace, S. D. Gore, T. K. Kim, N. Daver, G. Garcia-Manero, M. Rozman, A. Orfao, Sa A Wang, M. K. Foucar, U. Germing, Torsten Haferlach, P. Scheinberg, Yasushi Miyazaki, M. Iastrebner, A. Kulasekararaj, T. Cluzeau, S. Kordasti, A. A. van de Loosdrecht, L. Adès, A. Zeidan, M. D. Della Porta · 发表于：The Lancet Haematology · 年份：2024 · DOI：10.1016/s2352-3026(24)00251-5 · 被引用次数：24 · 研究领域：Medicine

The WHO and International Consensus Classification 2022 classifications of myelodysplastic syndromes enhance diagnostic precision and refine decision-making processes in these diseases. However, some discrepancies still exist and potentially cause inconsistency in their adoption in a clinical setting. We adopted a data-driven approach to provide a harmonisation between these two classification systems. We investigated the importance of genomic features and their effect on the cluster assignment process to define harmonised entity labels. A panel of expert haematologists, haematopathologists, and data scientists who are members of the International Consortium for Myelodysplastic Syndromes was formed and a modified Delphi consensus process was adopted to harmonise morphologically defined categories without a distinct genomic profile. The panel held regular online meetings and participated in a two-round survey using an online voting tool. We identified nine clusters with distinct genomic features. The cluster of highest hierarchical importance was characterised by biallelic TP53 inactivation. Cluster assignment was irrespective of blast count. Individuals with monoallelic TP53 inactivation were assigned to other clusters. Hierarchically, the second most important group included myelodysplastic syndromes with del(5q). Isolated del(5q) and less than 5% of blast cells in the bone marrow were the most relevant label-defining features. The third most important cluster included myelo...