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Acute myeloid leukemia

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

Leukemia volume 35, pages 282–285 (2021)Cite this article

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We read with great interest the article by Jawhar et al. [1]. They identified KIT D816V mutated/CBF-negative acute myeloid leukemia (AML) as an adverse risk group associated with systematic mastocytosis (SM) [1]. The KIT p.Asp816Val (KITD816V) driver and other myeloid genes such as transcription factors or epigenetic modifiers are frequently mutated in the mast cells (MC) and associated hematological neoplasm (AHN) components of SM-AHN [2,3,4]. Here, we sought to explore the origin of SM-AHN in a SM-AML patient with a FLT3-ITD (internal tandem duplication) and KITD816V, among other myeloid variants.

An 82-year-old male with no history of a hematologic malignancy presented with shortness of breath on mild exertion and occasional bruising. Physical examination revealed pallor, axillary lymphadenopathy and splenomegaly with no hepatomegaly or skin lesions. A full blood count showed hemoglobin concentration of 72 g/l, white blood cell count of 36.4 × 109/l and platelet count of 11 × 109/l. The peripheral blood film showed 23% blasts and marked thrombocytopenia.

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Fig. 1: Systemic mastocytosis with acute myeloid leukemia.

References

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Acknowledgements

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

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Authors and Affiliations

  1. Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada

    Jose-Mario Capo-Chichi, Elizabeth Kagotho, Rakesh Nayyar, Davidson Zhao & Hong Chang

  2. Department of Hematology and Medical Oncology, University Health Network, Toronto, ON, Canada

    Jose-Mario Capo-Chichi, Mark Minden & Hong Chang

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  1. Jose-Mario Capo-Chichi
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  2. Elizabeth Kagotho
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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.

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Correspondence to Hong Chang.

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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 35, 282–285 (2021). https://doi.org/10.1038/s41375-020-01073-5

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