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Myelodysplastic syndromes

Nature Reviews Disease Primers volume 8, Article number: 74 (2022) Cite this article

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Abstract

Myelodysplastic syndromes (MDS) are a family of myeloid cancers with diverse genotypes and phenotypes characterized by ineffective haematopoiesis and risk of transformation to acute myeloid leukaemia (AML). Some epidemiological data indicate that MDS incidence is increasing in resource-rich regions but this is controversial. Most MDS cases are caused by randomly acquired somatic mutations. In some patients, the phenotype and/or genotype of MDS overlaps with that of bone marrow failure disorders such as aplastic anaemia, paroxysmal nocturnal haemoglobinuria (PNH) and AML. Prognostic systems, such as the revised International Prognostic Scoring System (IPSS-R), provide reasonably accurate predictions of survival at the population level. Therapeutic goals in individuals with lower-risk MDS include improving quality of life and minimizing erythrocyte and platelet transfusions. Therapeutic goals in people with higher-risk MDS include decreasing the risk of AML transformation and prolonging survival. Haematopoietic cell transplantation (HCT) can cure MDS, yet fewer than 10% of affected individuals receive this treatment. However, how, when and in which patients with HCT for MDS should be performed remains controversial, with some studies suggesting HCT is preferred in some individuals with higher-risk MDS. Advances in the understanding of MDS biology offer the prospect of new therapeutic approaches.

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Fig. 1: Epidemiology of MDS.
Fig. 2: Drivers of the development of aplastic anaemia, MDS and AML.
Fig. 3: Relationship between aplastic anaemia, MDS and AML.
Fig. 4: Frequent mutations affecting transcription, erythropoiesis, and DNA repair and conformation in MDS.
Fig. 5: Frequent mutations in RNA splicing, immune function and metabolism in MDS.
Fig. 6: Proposed algorithm for the treatment of MDS.
Fig. 7: Prognostic factors for different outcomes in intermediate-risk MDS.

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Acknowledgements

Y.L. is supported, in part, by Sun Yat-sen University Cancer Center Start-Up Funding (No. 201603), the National Natural Science Foundation of China (81873428) and the Programme for Guangdong Introducing Innovative and Entrepreneurial Teams (2017ZT07S096). R.P.G. acknowledges support from the National Institute of Health Research (NIHR) Biomedical Research Centre funding scheme. Y.L. and R.P.G. acknowledge support funding from the Ministry of Science and Technology of China (84000-51200002). E. Hellström-Lindberg (Karolinska Institute) and D. Steensma (Novartis Corp.) kindly reviewed the typescript.

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Author notes

  1. These authors contributed equally: Huan Li, Fang Hu.

Authors and Affiliations

  1. Department of Hematologic Oncology, State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Sun Yat-sen University Cancer Center, Guangzhou, P.R. China

    Huan Li, Fang Hu, Robert Peter Gale & Yang Liang

  2. Haematology Research Centre, Department of Immunology and Inflammation, Imperial College London, London, UK

    Robert Peter Gale

  3. Division of Hematology, Sylvester Comprehensive Cancer Center, University of Miami, Miami, FL, USA

    Mikkael A. Sekeres

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Contributions

Introduction (Y.L., R.P.G. and H.L.); Epidemiology (H.L. and R.P.G.); Mechanisms/pathophysiology (R.P.G., F.H. and M.A.S.); Diagnosis, screening and prevention (M.A.S., H.L., Y.L. and R.P.G.); Management (Y.L., M.A.S. and R.P.G.); Quality of life (Y.L., R.P.G. and F.H.); Outlook (Y.L. and R.P.G.); Overview of the Primer (M.A.S., R.P.G. and Y.L.).

Corresponding author

Correspondence to Yang Liang.

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Competing interests

R.P.G. is a consultant to NexImmune Inc. and Ananexa Pharma Ascentage Pharm Group, Antengene Biotech LLC; Medical Director, FFF Enterprises Inc.; partner, AZAC Inc.; Board of Directors, Russian Foundation for Cancer Research Support; and Scientific Advisory Board: StemRad Ltd. M.A.S. is on advisory boards for BMS, Novartis, Syros and Kurome. Y.L., H.L. and F.H. declare no competing interests.

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Grupo Español de Síndromes Mielodisplásicos: https://www.sehh.es/en/documents/353-grupos-de-trabajo/990-grupo-espanol-de-sindromes-mielodisplasicos.

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Li, H., Hu, F., Gale, R.P. et al. Myelodysplastic syndromes. Nat Rev Dis Primers 8, 74 (2022). https://doi.org/10.1038/s41572-022-00402-5

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