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Chronic myeloproliferative neoplasms

The S505A thrombopoietin receptor mutation in childhood hereditary thrombocytosis and essential thrombocythemia is S505N: single letter amino acid code matters

Leukemia volume 33, pages 563–564 (2019)Cite this article

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Dear Editor,

Myeloproliferative neoplasms (MPNs) are rare diseases in children [1] when compared to adults [2]. Targeted sequencing revealed differences in the mutational landscape of pediatric and adult MPNs [1]. Children exhibit a lower frequency of mutations in the MPN driver genes JAK2, MPL, and CALR, and a much higher proportion of children exhibit no mutation among the 104 classically involved genes; these children exhibiting a trend towards essential thrombocythemia (ET) [1]. We were surprised to read about an activating thrombopoietin receptor (TpoR/Mpl) S505A transmembrane domain (TM) mutation in childhood hereditary thrombocytosis (HT) and ET [3,4,5].

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Fig. 1

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Acknowledgements

Expert technical support from Lidvine Genet and Céline Mouton is acknowledged. G.L. is supported by a fellowship from the Foundation “Les avions de Sébastien”, Belgium. Research support to SNC was from Ludwig Cancer Research, WELBIO, Fondation contre le cancer, Salus Sanguini, FRS-FNRS Belgium and project ARC10/15-027.

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Authors and Affiliations

  1. Université catholique de Louvain, de Duve Institute and WELBIO, Brussels, Belgium

    Jean-Philippe Defour, Gabriel Levy, Emilie Leroy & Stefan N. Constantinescu

  2. Ludwig Institute for Cancer Research, Brussels, Belgium

    Jean-Philippe Defour, Gabriel Levy, Emilie Leroy & Stefan N. Constantinescu

  3. Department of Clinical Biology, Cliniques universitaires Saint-Luc, Brussels, Belgium

    Jean-Philippe Defour

  4. Department of Pediatrics, Cliniques universitaires Saint-Luc, Brussels, Belgium

    Gabriel Levy

  5. Department of Biochemistry, Stony Brook University, Stony Brook, Long Island, New York, NY, USA

    Steven O. Smith

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  1. Jean-Philippe Defour
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Correspondence to Stefan N. Constantinescu.

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Defour, JP., Levy, G., Leroy, E. et al. The S505A thrombopoietin receptor mutation in childhood hereditary thrombocytosis and essential thrombocythemia is S505N: single letter amino acid code matters. Leukemia 33, 563–564 (2019). https://doi.org/10.1038/s41375-018-0356-x

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