Acute myeloid leukemia

Systemic mastocytosis with acute myeloid leukemia occurs from mutually exclusive clones expressing KITD816V and FLT3-ITD

Access options

Rent or Buy article

Get time limited or full article access on ReadCube.

from$8.99

All prices are NET prices.

Fig. 1: Systemic mastocytosis with acute myeloid leukemia.

References

  1. 1.

    Jawhar M, Döhner K, Kreil S, Schwaab J, Shoumariyeh K, Meggendorfer M, et al. KIT D816 mutated/CBF-negative acute myeloid leukemia: a poor-risk subtype associated with systemic mastocytosis. Leukemia. 2019;33:1124–34.

    CAS  Article  PubMed  Google Scholar 

  2. 2.

    Hanssens K, Brenet F, Agopian J, Georgin-lavialle S, Damaj G, Cabaret L, et al. SRSF2-p95 hotspot mutation is highly associated with advanced forms of mastocytosis and mutations in epigenetic regulator genes. Haematologica. 2014;99:831–5.

    Article  Google Scholar 

  3. 3.

    Jawhar M, Schwaab J, Schnittger S, Meggendorfer M, Pfirrmann M, Sotlar K, et al. Additional mutations in SRSF2, ASXL1 and/or RUNX1 identify a high-risk group of patients with KIT D816V+ advanced systemic mastocytosis. Leukemia. 2016;30:136–43.

    CAS  Article  Google Scholar 

  4. 4.

    Jawhar M, Schwaab J, Schnittger S, Sotlar K, Horny HP, Metzgeroth G, et al. Molecular profiling of myeloid progenitor cells in multi-mutated advanced systemic mastocytosis identifies KIT D816V as a distict and late event. Leukemia. 2015;29:115–22.

    Article  Google Scholar 

  5. 5.

    Sotlar K, Bache A, Stellmacher F, Bültmann B, Valent P, Horny H-P. Systemic Mastocytosis Associated with Chronic Idiopathic Myelofibrosis. J Mol Diagnostics. 2008;10:58–66.

    CAS  Article  Google Scholar 

  6. 6.

    Sotlar K, Colak S, Bache A, Berezowska S, Krokowski M, BÜltmann B, et al. Variable presence of KITD816V in clonal haematological non-mast cell lineage diseases associated with systemic mastocytosis (SM–AHNMD). J Pathol. 2010;220:586–95.

    CAS  Article  Google Scholar 

  7. 7.

    Fritsche-Polanz R, Fritz M, Huber A, Sotlar K, Sperr WR, Mannhalter C, et al. High frequency of concomitant mastocytosis in patients with acute myeloid leukemia exhibiting the transforming KIT mutation D816V. Mol Oncol. 2010;4:335–46.

    CAS  Article  PubMed  Google Scholar 

  8. 8.

    Jawhar M, Schwaab J, Naumann N, Horny HP, Sotlar K, Haferlach T, et al. Response and progression on midostaurin in advanced systemic mastocytosis: KIT D816V and other molecular markers. Blood. 2017;130:137–45.

    CAS  Article  Google Scholar 

  9. 9.

    Schwaab J, Schnittger S, Sotlar K, Walz C, Fabarius A, Pfirrmann M, et al. Comprehensive mutational profiling in advanced systemic mastocytosis. Blood. 2013;122:2460–6.

    CAS  Article  Google Scholar 

  10. 10.

    Arock M, Sotlar K, Gotlib J, Sperr WR, Hartmann K, Schwartz LB, et al. New developments in the field of mastocytosis and mast cell activation syndromes: a summary of the Annual Meeting of the European Competence Network on Mastocytosis (ECNM) 2019. Leuk Lymphoma. 2020;61:1075–83.

    Article  Google Scholar 

Download references

Acknowledgements

The study was supported in part by the grants from Leukemia and Lymphoma Research Society of Canada (LLSC), and Cancer Research Society (CRS).

Author information

Affiliations

Authors

Contributions

CJM, EK, RN, DZ carried out experiments, analysis and interpretation of data, MD provided clinical sample and helpful discussions. CJM, EK, and HC wrote the manuscript. HC conceived and designed the study, analyzed the data and supervised the project.

Corresponding author

Correspondence to Hong Chang.

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.

Rights and permissions

Reprints and Permissions

About this article

Verify currency and authenticity via CrossMark

Cite this article

Capo-Chichi, JM., Kagotho, E., Nayyar, R. et al. Systemic mastocytosis with acute myeloid leukemia occurs from mutually exclusive clones expressing KITD816V and FLT3-ITD. Leukemia (2020). https://doi.org/10.1038/s41375-020-01073-5

Download citation

Search