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Low rate of calreticulin mutations in refractory anaemia with ring sideroblasts and marked thrombocytosis

Leukemia volume 28, pages 1374–1376 (2014)Cite this article

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Refractory anaemia with ring sideroblasts (RARS) and marked thrombocytosis (RARS-T) was proposed in the World Health Organisation 2001 classification of tumours of haematopoietic and lymphoid tissues and retained as a provisional entity in the 2008 version.1 RARS-T is characterised by a high rate of JAK2V617F mutations2, 3, 4 or the presence of mutations in exon 10 of MPL (myeloproliferative leukaemia).5, 6 The existence of RARS-T as an entity independent from RARS and essential thrombocythemia (ET) was a matter of debate, as certain specialists favoured the hypothesis that RARS-T was a form of ET with >15% of ring sideroblasts in the bone marrow, whereas others thought that RARS-T is derived from RARS with secondary thrombocytosis developing through the acquisition of the JAK2V617F mutation.

We recently demonstrated that RARS-T differed from RARS and ET from a clinical, biological and prognostic point of view.4 The presence of high rates of splicing factor 3B subunit 1 (SF3B1) mutations in RARS-T and the absence of these mutations in ET strengthened the hypothesis that RARS-T was a distinct entity.7, 8, 9

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Acknowledgements

We would like to thank the medical doctors from the Haematology Department and Laboratory of the University Hospital of Dijon, the Spanish Group of Hematological Cytology (GECH). EL is grateful to Ms Marina Migeon for expert technical help and to the Tumour Bank of the CHU of Bordeaux. We thank Sylvie Hermouet, medical doctor at the University Hospital of Nantes, for reading the manuscript as well as Philip Bastable for revising the manuscript. This work was supported by grants from the association ‘Tulipes contre le cancer’ (Châlon s/Saône, Burgundy, France) and from FEHH (Spain) and 2009 SGR 541 (Generalitat de Catalunya).

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Author notes

  1. J Broséus and E Lippert: These authors contributed equally to this work.

  2. J Broséus, E Lippert, S Schnittger, R Kralovics and F Girodon: On behalf of MPN&MPNr-EuroNet (COST Action BM0902).

  3. J Broséus, E Lippert and F Girodon: On behalf of the French Intergroup of MPNs (FIM).

  4. L Florensa and E Luño: On behalf of the Spanish Group of Hematological Cytology (GECH).

Authors and Affiliations

  1. Service d’Hématologie Biologique, University Hospital, Nancy, France

    J Broséus

  2. Inserm U954, Faculty of medicine, Nancy, France

    J Broséus

  3. Haematology laboratory, University Hospital, Bordeaux, France

    E Lippert

  4. Inserm U1035-Université Bordeaux Segalen, Bordeaux, France

    E Lippert

  5. CeMM Research Center for Molecular Medicine of the Austria Academy of Sciences, Vienna, Austria

    A S Harutyunyan, J D Milosevic & R Kralovics

  6. MLL Munich Leukemia Laboratory, Munich, Germany

    S Jeromin, T Haferlach & S Schnittger

  7. Department of Haematology, Oncology and Clinical Immunology, Heinrich-Heine-Universität, Düsseldorf, Germany

    E Zipperer & U Germing

  8. Laboratorio Citologia Hematològica, Servicio Patologia, Hospital del Mar, Barcelona, Spain

    L Florensa

  9. Servicio de Hematología, Servicio de Salud del Principado de Asturias, Oviedo, Spain

    E Luño

  10. Haematology Laboratory, University Hospital, Dijon, France

    F Girodon

  11. Inserm U866, Faculty of Medicine Dijon, Dijon, France

    F Girodon

Authors
  1. J Broséus
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  2. E Lippert
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  3. A S Harutyunyan
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  4. S Jeromin
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  5. E Zipperer
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  6. L Florensa
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  7. J D Milosevic
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  8. T Haferlach
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  9. U Germing
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  10. E Luño
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  11. S Schnittger
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  12. R Kralovics
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  13. F Girodon
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Corresponding author

Correspondence to F Girodon.

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Competing interests

SS and TH declare part ownership of the MLL Munich Leukemia Laboratory. SJ is employed by the MLL Munich Leukemia Laboratory. The remaining authors declare no conflict of interest.

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Broséus, J., Lippert, E., Harutyunyan, A. et al. Low rate of calreticulin mutations in refractory anaemia with ring sideroblasts and marked thrombocytosis. Leukemia 28, 1374–1376 (2014). https://doi.org/10.1038/leu.2014.49

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