Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • Letter
  • Published:

Myelodysplastic syndrome

Clinicopathologic characteristics, prognostication and treatment outcomes for myelodysplastic/myeloproliferative neoplasm, unclassifiable (MDS/MPN-U): Mayo Clinic-Moffitt Cancer Center study of 135 consecutive patients

Leukemia volume 34, pages 656–661 (2020)Cite this article

Subjects

The latest iteration of the World Health Organization (WHO) classification of myeloid neoplasms includes five morphologically distinct subtypes of myelodysplastic/myeloproliferative (MDS/MPN) neoplasms namely chronic myelomonocytic leukemia (CMML), atypical chronic myeloid leukemia (BCR-ABL1-negative), juvenile myelomonocytic leukemia (JMML), myelodysplastic/myeloproliferative neoplasm with ring sideroblasts and thrombocytosis (MDS/MPN-RS-T), and myelodysplastic/myeloproliferative neoplasm, unclassifiable (MDS/MPN-U) [1, 2]. Among these, MDS/MPN-U is the least characterized entity with limited data available on its clinicopathologic characteristics, prognostication and survival outcomes.

Genomically, when compared to other adult-onset MDS/MPN overlap syndromes such as CMML [3], MDS/MPN-U has a similar frequency of pathogenic gene variants (mt) affecting epigenetic and splicing pathways; however, there are distinct differences such as the predominance of JAK-STAT pathway activation and a lower frequency of TET2mt [4, 5]. Previous clinical study cohorts, largely single institutional and retrospective, have demonstrated poor outcomes for affected patients with median overall survivals (OS) ranging between 12–24 months [6, 7].

This is a preview of subscription content, access via your institution

Access options

Buy this article

  • Purchase on Springer Link
  • Instant access to full article PDF
Buy now

Prices may be subject to local taxes which are calculated during checkout

Fig. 1

References

  1. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, et al. (eds). WHO classification of tumours of haematopoietic and lymphoid tissues, revised. 4th edn. Lyon: World Health Organization; 2017.

    Google Scholar 

  2. 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  PubMed  Google Scholar 

  3. Patnaik MM, Tefferi A. Chronic myelomonocytic leukemia: 2018 update on diagnosis, risk stratification and management. Am J Hematol. 2018;93:824–40.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  4. Meggendorfer M, Jeromin S, Haferlach C, Kern W, Haferlach T. The mutational landscape of 18 investigated genes clearly separates four subtypes of myelodysplastic/myeloproliferative neoplasms. Haematologica. 2018;103:e192–e195. https://doi.org/10.3324/haematol.2017.183160.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  5. Bose P, Nazha A, Komrokji RS, Patel KP, Pierce SA, Al-Ali N, et al. Mutational landscape of myelodysplastic/myeloproliferative neoplasm-unclassifiable. Blood. 2018;132:2100–3.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  6. DiNardo CD, Daver N, Jain N, Pemmaraju N, Bueso-Ramos C, Yin CC, et al. Myelodysplastic/myeloproliferative neoplasms, unclassifiable (MDS/MPN, U): natural history and clinical outcome by treatment strategy. Leukemia. 2014;28:958–61.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  7. Al-Kali A, Abou Hussein AK, Patnaik M, Zblewski D, Gangat N, Hashmi S, et al. Hypomethylating agents (HMAs) effect on myelodysplastic/myeloproliferative neoplasm unclassifiable (MDS/MPN-U): single institution experience. Leuk Lymphoma. 2018;59:2737–9.

    Article  CAS  PubMed  Google Scholar 

  8. Savona MR, Malcovati L, Komrokji R, Tiu RV, Mughal TI, Orazi A, et al. An international consortium proposal of uniform response criteria for myelodysplastic/myeloproliferative neoplasms (MDS/MPN) in adults. Blood. 2015;125:1857–65.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  9. Greenberg P, Cox C, LeBeau MM, Fenaux P, Morel P, Sanz G, et al. International scoring system for evaluating prognosis in myelodysplastic syndromes. Blood. 1997;89:2079–88.

    Article  CAS  PubMed  Google Scholar 

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

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  11. Kantarjian H, O’Brien S, Ravandi F, Cortes J, Shan J, Bennett JM, et al. Proposal for a new risk model in myelodysplastic syndrome that accounts for events not considered in the original International Prognostic Scoring System. Cancer. 2008;113:1351–61.

    Article  CAS  PubMed  Google Scholar 

  12. Garcia-Manero G, Shan J, Faderl S, Cortes J, Ravandi F, Borthakur G, et al. A prognostic score for patients with lower risk myelodysplastic syndrome. Leukemia. 2008;22:538–43.

    Article  CAS  PubMed  Google Scholar 

  13. Padron E, Garcia-Manero G, Patnaik MM, Itzykson R, Lasho T, Nazha A, et al. An international data set for CMML validates prognostic scoring systems and demonstrates a need for novel prognostication strategies. Blood Cancer J. 2015;5:e333. https://doi.org/10.1038/bcj.2015.53.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  14. Bejar R, Stevenson K, Abdel-Wahab O, Galili N, Nilsson B, Garcia-Manero G, et al. Clinical effect of point mutations in myelodysplastic syndromes. New Engl J Med. 2011;364:2496–506.

    Article  CAS  PubMed  Google Scholar 

  15. Cannella L, Breccia M, Latagliata R, Frustaci A, Alimena G. Clinical and prognostic features of patients with myelodysplastic/myeloproliferative syndrome categorized as unclassified (MDS/MPD-U) by WHO classification. Leuk Res. 2008;32:514–6.

    Article  PubMed  Google Scholar 

Download references

Acknowledgements

This publication was supported by Grant#UL1 TR002377 from the National Center for Advancing Translational Sciences (NCATS), however, it does not necessarily represent official views of NIH.

Author information

Author notes

  1. These authors contributed equally: Abhishek A. Mangaonkar, David M. Swoboda

Authors and Affiliations

  1. Division of Hematology, Department of Medicine, Mayo Clinic, Rochester, MN, USA

    Abhishek A. Mangaonkar, Giacomo Coltro, Terra L. Lasho, Prateek Pophali, Ryan M. Carr, Moritz Binder, Christy M. Finke, Naseema Gangat, Aref Al-Kali, Kebede H. Begna & Mrinal M. Patnaik

  2. Department of Malignant Hematology, H. Lee Moffitt Cancer Center, Tampa, FL, USA

    David M. Swoboda, Najla H. Al Ali, Eric Padron & Chetasi Talati

  3. Biomedical Statistics and Informatics, Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA

    Paul J. Novotny

  4. Division of Hematopathology, Department of Pathology, Mayo Clinic, Rochester, MN, USA

    Kaaren K. Reichard

  5. Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA

    Kaaren K. Reichard & Rhett P. Ketterling

  6. Division of Hematopathology, Department of Pathology, H. Lee Moffitt Cancer Center, Tampa, FL, USA

    Pardis Vafaii & Ling Zhang

Authors
  1. Abhishek A. Mangaonkar
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. David M. Swoboda
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Giacomo Coltro
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Terra L. Lasho
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Paul J. Novotny
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Prateek Pophali
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Ryan M. Carr
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Moritz Binder
    View author publications

    You can also search for this author in PubMed Google Scholar

  9. Christy M. Finke
    View author publications

    You can also search for this author in PubMed Google Scholar

  10. Naseema Gangat
    View author publications

    You can also search for this author in PubMed Google Scholar

  11. Aref Al-Kali
    View author publications

    You can also search for this author in PubMed Google Scholar

  12. Kebede H. Begna
    View author publications

    You can also search for this author in PubMed Google Scholar

  13. Kaaren K. Reichard
    View author publications

    You can also search for this author in PubMed Google Scholar

  14. Rhett P. Ketterling
    View author publications

    You can also search for this author in PubMed Google Scholar

  15. Najla H. Al Ali
    View author publications

    You can also search for this author in PubMed Google Scholar

  16. Pardis Vafaii
    View author publications

    You can also search for this author in PubMed Google Scholar

  17. Ling Zhang
    View author publications

    You can also search for this author in PubMed Google Scholar

  18. Eric Padron
    View author publications

    You can also search for this author in PubMed Google Scholar

  19. Chetasi Talati
    View author publications

    You can also search for this author in PubMed Google Scholar

  20. Mrinal M. Patnaik
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding authors

Correspondence to Chetasi Talati or Mrinal M. Patnaik.

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

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Mangaonkar, A.A., Swoboda, D.M., Coltro, G. et al. Clinicopathologic characteristics, prognostication and treatment outcomes for myelodysplastic/myeloproliferative neoplasm, unclassifiable (MDS/MPN-U): Mayo Clinic-Moffitt Cancer Center study of 135 consecutive patients. Leukemia 34, 656–661 (2020). https://doi.org/10.1038/s41375-019-0574-x

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1038/s41375-019-0574-x

This article is cited by

Search

Advanced search

Quick links