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 to the Editor
  • Published:

Blastic plasmacytoid dendritic cell neoplasm and chronic myelomonocytic leukemia: a shared clonal origin

Leukemia volume 31, pages 1238–1240 (2017)Cite this article

Subjects

Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare, distinct entity of the WHO 2008 classification of hematopoietic tumors1 that is thought to arise from plasmacytoid dendritic cell precursors. BPDCN is characterized by the expansion of monomorphic immature tumor cells expressing CD4, CD56, CD123 and TLC-1, usually in the bone marrow and the skin.1 The disease affects both young and old adults and the outcome of patients treated with standard-dose therapeutic regimens is usually poor.1 Tumor cells frequently carry recurrent chromosomal abnormalities1 and, more recently, several recurrently mutated genes were identified in BPDCN, including TET2 (36%), ASXL1 (32%) and NRAS (20%).2

About 10–20% of BPDCN patients are also affected by other myeloid neoplasms, including myelodysplastic syndromes, chronic myelomonocytic leukemia (CMML) and acute myeloid leukemia. CMML is a myelodysplastic/myeloproliferative neoplasm characterized by hypercellular marrow, persistent peripheral monocytosis, anemia and splenomegaly.1 Interestingly, CMML may carry mutations of the TET2, ASXL1 and RAS genes that are also involved in BPDCN.2, 3 Although the co-occurrence of such myeloid neoplasms and BPDCN has been widely reported in the literature, it remains uncertain whether these diseases are clonally related.

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

Relevant articles

Open Access articles citing this article.

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

Figure 1

References

  1. Swerdlow SH International Agency for Research on Cancer, World Health OrganizationWHO Classification of Tumours of Haematopoietic and Lymphoid Tissues, 4th edn. International Agency for Research on Cancer:Lyon, France, 2008, 439pp..

  2. Menezes J, Acquadro F, Wiseman M, Gomez-Lopez G, Salgado RN, Talavera-Casanas JG et al. Exome sequencing reveals novel and recurrent mutations with clinical impact in blastic plasmacytoid dendritic cell neoplasm. Leukemia 2014; 28: 823–829.

    Article  CAS  Google Scholar 

  3. Parikh SA, Tefferi A . Chronic myelomonocytic leukemia: 2013 update on diagnosis, risk stratification, and management. Am J Hematol 2013; 88: 967–974.

    Article  CAS  Google Scholar 

  4. Ito S, D'Alessio AC, Taranova OV, Hong K, Sowers LC, Zhang Y . Role of Tet proteins in 5mC to 5hmC conversion, ES-cell self-renewal and inner cell mass specification. Nature 2010; 466: 1129–1133.

    Article  CAS  Google Scholar 

  5. Alayed K, Patel KP, Konoplev S, Singh RR, Routbort MJ, Reddy N et al. TET2 mutations, myelodysplastic features, and a distinct immunoprofile characterize blastic plasmacytoid dendritic cell neoplasm in the bone marrow. Am J Hematol 2013; 88: 1055–1061.

    Article  CAS  Google Scholar 

  6. Malcovati L, Papaemmanuil E, Ambaglio I, Elena C, Galli A, Della Porta MG et al. Driver somatic mutations identify distinct disease entities within myeloid neoplasms with myelodysplasia. Blood 2014; 124: 1513–1521.

    Article  CAS  Google Scholar 

  7. Steensma DP, Bejar R, Jaiswal S, Lindsley RC, Sekeres MA, Hasserjian RP et al. Clonal hematopoiesis of indeterminate potential and its distinction from myelodysplastic syndromes. Blood 2015; 126: 9–16.

    Article  CAS  Google Scholar 

  8. Genovese G, Kahler AK, Handsaker RE, Lindberg J, Rose SA, Bakhoum SF et al. Clonal hematopoiesis and blood-cancer risk inferred from blood DNA sequence. N Engl J Med 2014; 371: 2477–2487.

    Article  Google Scholar 

  9. Xie M, Lu C, Wang J, McLellan MD, Johnson KJ, Wendl MC et al. Age-related mutations associated with clonal hematopoietic expansion and malignancies. Nature Med 2014; 20: 1472–1478.

    Article  CAS  Google Scholar 

  10. Jaiswal S, Fontanillas P, Flannick J, Manning A, Grauman PV, Mar BG et al. Age-related clonal hematopoiesis associated with adverse outcomes. N Engl J Med 2014; 371: 2488–2498.

    Article  Google Scholar 

  11. McKerrell T, Park N, Moreno T, Grove CS, Ponstingl H, Stephens J et al. Leukemia-associated somatic mutations drive distinct patterns of age-related clonal hemopoiesis. Cell Rep 2015; 10: 1239–1245.

    Article  CAS  Google Scholar 

  12. Shlush LI, Zandi S, Mitchell A, Chen WC, Brandwein JM, Gupta V et al. Identification of pre-leukaemic haematopoietic stem cells in acute leukaemia. Nature 2014; 506: 328–333.

    Article  CAS  Google Scholar 

  13. Corces-Zimmerman RM, Hong W-J, Weissman IL, Medeiros BC, Majeti R . Preleukemic mutations in human acute myeloid leukemia affect epigenetic regulators and persist in remission. Proc Natl Acad Sci USA 2014; 111: 2548–2553.

    Article  CAS  Google Scholar 

  14. Stenzinger A, Endris V, Pfarr N, Andrulis M, Jöhrens K, Klauschen F et al. Targeted ultra-deep sequencing reveals recurrent and mutually exclusive mutations of cancer genes in blastic plasmacytoid dendritic cell neoplasm. Oncotarget 2014; 5: 6404–6413.

    Article  Google Scholar 

  15. Mason CC, Khorashad JS, Tantravahi SK, Kelley TW, Zabriskie MS, Yan D et al. Age-related mutations and chronic myelomonocytic leukemia. Leukemia 2016; 30: 906–913.

    Article  CAS  Google Scholar 

Download references

Acknowledgements

We would like to acknowledge Professor F Facchetti (University of Brescia, Italy) for confirming the BPDCN diagnosis in the skin sample of our patient.

Author contributions

LB, VDB, MPM, CM, ET and BF designed the experiments; VDB and CM helped procure the specimens; LB, VDB, AV, GS, SA and ET collected and assembled the data; all authors discussed and interpreted the data, and helped in writing and approval of the manuscript.

Author information

Authors and Affiliations

  1. Department of Medicine, Institute of Hematology and Center for Hemato-Oncology Research (C.R.E.O.), University of Perugia, Perugia, Italy

    L Brunetti, V Di Battista, A Venanzi, G Schiavoni, M P Martelli, S Ascani, C Mecucci, E Tiacci & B Falini

Authors
  1. L Brunetti
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. V Di Battista
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. A Venanzi
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. G Schiavoni
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. M P Martelli
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. S Ascani
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. C Mecucci
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. E Tiacci
    View author publications

    You can also search for this author in PubMed Google Scholar

  9. B Falini
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to B Falini.

Ethics declarations

Competing interests

The authors declare no conflict of interest.

Additional information

Supplementary Information accompanies this paper on the Leukemia website

Supplementary information

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Brunetti, L., Di Battista, V., Venanzi, A. et al. Blastic plasmacytoid dendritic cell neoplasm and chronic myelomonocytic leukemia: a shared clonal origin. Leukemia 31, 1238–1240 (2017). https://doi.org/10.1038/leu.2017.38

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1038/leu.2017.38

This article is cited by

Search

Advanced search

Quick links