Myelodysplastic syndrome

Genomic landscape of MDS/CMML associated with systemic inflammatory and autoimmune disease

Leukemia (2021)Cite this article

Subjects

Access options

Rent or Buy article

Get time limited or full article access on ReadCube.

from$8.99

Rent or Buy

All prices are NET prices.

Fig. 1: Clinical and molecular comparison between SIAD and control cohorts.
Fig. 2: T-cell cytometry analysis and correlation between the genotype and the immunological landscape.

References

  1. 1.

    Adès L, Itzykson R, Fenaux P. Myelodysplastic syndromes. Lancet. 2014;383:2239–52.

    Article  Google Scholar 

  2. 2.

    Mekinian A, Grignano E, Braun T, Decaux O, Liozon E, Costedoat-Chalumeau N, et al. Systemic inflammatory and autoimmune manifestations associated with myelodysplastic syndromes and chronic myelomonocytic leukaemia: a French multicentre retrospective study. Rheumatology. 2016;55:291–300.

    CAS  Article  Google Scholar 

  3. 3.

    Braun T, Fenaux P. Myelodysplastic syndromes (MDS) and autoimmune disorders (AD): cause or consequence? Best Pract Res Clin Haematol. 2013;26:327–36.

    CAS  Article  Google Scholar 

  4. 4.

    Oh Y-J, Shin D-Y, Hwang SM, Kim S-M, Im K, Park HS, et al. Mutation of ten-eleven translocation-2 is associated with increased risk of autoimmune disease in patients with myelodysplastic syndrome. Korean J Intern Med. 2020;35:457–64.

    CAS  Article  Google Scholar 

  5. 5.

    Fraison J-B, Mekinian A, Grignano E, Kahn J-E, Arlet J-B, Decaux O, et al. Efficacy of Azacitidine in autoimmune and inflammatory disorders associated with myelodysplastic syndromes and chronic myelomonocytic leukemia. Leuk Res. 2016;43:13–7.

    CAS  Article  Google Scholar 

  6. 6.

    Arber DA, Orazi A, Hasserjian R, Thiele J, Borowitz MJ, Le Beau MM, et al. The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. Blood. 2016;127:2391–405.

    CAS  Article  Google Scholar 

  7. 7.

    Greenberg PL, Tuechler H, Schanz J, Sanz G, Garcia-Manero G, Solé F, et al. Revised international prognostic scoring system for myelodysplastic syndromes. Blood. 2012;120:2454–65.

    CAS  Article  Google Scholar 

  8. 8.

    Cheson BD, Greenberg PL, Bennett JM, Lowenberg B, Wijermans PW, Nimer SD, et al. Clinical application and proposal for modification of the International Working Group (IWG) response criteria in myelodysplasia. Blood. 2006;108:419–25.

    CAS  Article  Google Scholar 

  9. 9.

    Inoue S, Lemonnier F, Mak TW. Roles of IDH1/2 and TET2 mutations in myeloid disorders. Int J Hematol. 2016;103:627–33.

    CAS  Article  Google Scholar 

  10. 10.

    Bruggner RV, Bodenmiller B, Dill DL, Tibshirani RJ, Nolan GP. Automated identification of stratifying signatures in cellular subpopulations. Proc Natl Acad Sci USA. 2014;111:E2770–7.

    CAS  Article  Google Scholar 

  11. 11.

    Yue X, Trifari S, Äijö T, Tsagaratou A, Pastor WA, Zepeda-Martínez JA, et al. Control of Foxp3 stability through modulation of TET activity. J Exp Med. 2016;213:377–97.

    CAS  Article  Google Scholar 

  12. 12.

    Kordasti SY, Afzali B, Lim Z, Ingram W, Hayden J, Barber L, et al. IL-17-producing CD4+ T cells, pro-inflammatory cytokines and apoptosis are increased in low risk myelodysplastic syndrome. Br J Haematol. 2009;145:64–72.

    CAS  Article  Google Scholar 

  13. 13.

    Sallman DA, List A. The central role of inflammatory signaling in the pathogenesis of myelodysplastic syndromes. Blood. 2019;133:1039–48.

    CAS  Article  Google Scholar 

  14. 14.

    Ricard L, Hirsch P, Largeaud L, Deswarte C, Jachiet V, Mohty M, et al. Clonal haematopoiesis is increased in early onset in systemic sclerosis. Rheumatology. 2020;59:3499–504.

    Article  Google Scholar 

  15. 15.

    Itzykson R, Kosmider O, Cluzeau T, Mansat-De Mas V, Dreyfus F, Beyne-Rauzy O, et al. Impact of TET2 mutations on response rate to azacitidine in myelodysplastic syndromes and low blast count acute myeloid leukemias. Leukemia. 2011;25:1147–52.

    CAS  Article  Google Scholar 

Download references

Acknowledgements

This study was supported by a grant from the French Ministry of Health and the French National Cancer Institute (#PRT-K 2017-109). It was also supported by research grants from the Association Laurette Fugain (#ALF 2016-07), the Association Force Hémato (Call for projects 2017), the Association pour la Recherche en Immunologie Médicale et Expérimentale (ARIME), and the Association Saint-Louis. The authors also thank Niclas Setterblad, Antonio Alberdi, Marc Delord, Sophie Duchez, and the Technological Platform of the IRSL for their support. The “EMiLy” U1160 INSERM unit is a member of the OPALE Carnot institute.

Author information

Author notes

  1. These authors contributed equally: Nicolas Dulphy, Lionel Adès

Affiliations

  1. Université de Paris, Department of Hematology, Hôpital Saint-Louis, Assistance Publique des Hôpitaux de Paris (AP-HP), Paris, France

    Lin-Pierre Zhao, Marie Sébert, Raphaël Itzykson, Pierre Fenaux & Lionel Adès

  2. Université de Paris, Institut de Recherche Saint-Louis, EMiLy, INSERM U1160, Paris, France

    Lin-Pierre Zhao, Maxime Boy, Célia Azoulay, Ludivine Amable, Jihene Klibi, Kamel Benlagha, Marion Espéli, Karl Balabanian, Antoine Toubert & Nicolas Dulphy

  3. CNRS, GDR3697 “Microenvironment of tumor niches – Micronit”, Paris, France

    Lin-Pierre Zhao, Maxime Boy, Marion Espéli, Karl Balabanian, Antoine Toubert & Nicolas Dulphy

  4. Université de Paris, Laboratory of Hematology, AP-HP, Hôpital Saint-Louis, Paris, France

    Emmanuelle Clappier

  5. Université de Paris, Institut de Recherche Saint-Louis, INSERM U944, Paris, France

    Marie Sébert, Lina Benajiba, Pierre Fenaux & Lionel Adès

  6. Laboratory of Hematology, Centre Hospitalier Universitaire Lille, Lille, France

    Claude Preudhomme & Alice Marceau-Renaut

  7. INSERM Lille, University of Lille, Lille, France

    Claude Preudhomme & Alice Marceau-Renaut

  8. Université de Paris, Clinical Investigations Center, Hôpital Saint-Louis, AP-HP, Paris, France

    Lina Benajiba

  9. Université de Paris, INSERM/Centre National de la Recherche Scientifique, Unité Mixte de Recherche 944/7212, Paris Cancer Research Institute, Paris, France

    Raphaël Itzykson

  10. Service de Médecine Interne and Inflammation-Immunopathology-Biotherapy Department (DHU i2B), Hôpital Saint-Antoine, AP-HP, Paris, France

    Arsène Mekinian & Olivier Fain

  11. Laboratoire d’Immunologie et d’Histocompatibilité, Hôpital Saint-Louis, AP-HP, Paris, France

    Antoine Toubert & Nicolas Dulphy

Authors
  1. Lin-Pierre Zhao
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Maxime Boy
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Célia Azoulay
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Emmanuelle Clappier
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Marie Sébert
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Ludivine Amable
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Jihene Klibi
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Kamel Benlagha
    View author publications

    You can also search for this author in PubMed Google Scholar

  9. Marion Espéli
    View author publications

    You can also search for this author in PubMed Google Scholar

  10. Karl Balabanian
    View author publications

    You can also search for this author in PubMed Google Scholar

  11. Claude Preudhomme
    View author publications

    You can also search for this author in PubMed Google Scholar

  12. Alice Marceau-Renaut
    View author publications

    You can also search for this author in PubMed Google Scholar

  13. Lina Benajiba
    View author publications

    You can also search for this author in PubMed Google Scholar

  14. Raphaël Itzykson
    View author publications

    You can also search for this author in PubMed Google Scholar

  15. Arsène Mekinian
    View author publications

    You can also search for this author in PubMed Google Scholar

  16. Olivier Fain
    View author publications

    You can also search for this author in PubMed Google Scholar

  17. Antoine Toubert
    View author publications

    You can also search for this author in PubMed Google Scholar

  18. Pierre Fenaux
    View author publications

    You can also search for this author in PubMed Google Scholar

  19. Nicolas Dulphy
    View author publications

    You can also search for this author in PubMed Google Scholar

  20. Lionel Adès
    View author publications

    You can also search for this author in PubMed Google Scholar

Contributions

LPZ analyzed the clinical data. MB performed experiments, analyzed biological results, and made figures. CA, LA, and JK performed experiments. EC, MS, CP, AMR, and RI provided clinical information. KB analyzed data. ME, KB, AT, AM, OF, and PF provided scientific expertise. ND designed biological experiments and analyzed data. LA designed the study and wrote the manuscript with LPZ and ND. All authors critically reviewed the manuscript and gave final approval for submission.

Corresponding author

Correspondence to Lionel Adès.

Ethics declarations

Conflict of interest

The authors declare that they have no conflict of interest.

Additional information

Publisher’s note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Supplementary information

Rights and permissions

Reprints and Permissions

About this article

Verify currency and authenticity via CrossMark

Cite this article

Zhao, LP., Boy, M., Azoulay, C. et al. Genomic landscape of MDS/CMML associated with systemic inflammatory and autoimmune disease. Leukemia (2021). https://doi.org/10.1038/s41375-021-01152-1

Download citation

Search

Quick links